nephrocalcinosis

Summary

Summary: A condition characterized by precipitation of calcium phosphate in the tubules of the kidney, with resultant renal insufficiency. (Dorland, 27th ed)

Top Publications

  1. ncbi Neonatal nephrocalcinosis in association with glucose-galactose malabsorption
    Amitava Pahari
    Nephro Urology Unit, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK
    Pediatr Nephrol 18:700-2. 2003
  2. ncbi Development of nephrocalcinosis in very low birth weight infants
    Guido Hein
    Pediatric Clinic, Beurhausstrasse 40, 44137 Dortmund, Germany
    Pediatr Nephrol 19:616-20. 2004
  3. ncbi Nephrocalcinosis: molecular insights into calcium precipitation within the kidney
    John A Sayer
    School of Cell and Molecular Biosciences, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, UK
    Clin Sci (Lond) 106:549-61. 2004
  4. pmc Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis
    Tilman Breiderhoff
    Max Delbruck Center for Molecular Medicine, 13125 Berlin, Germany
    Proc Natl Acad Sci U S A 109:14241-6. 2012
  5. ncbi Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature
    Hercilio Martelli-Júnior
    Stomatology Clinic, Dental School, State University of Montes Claros, Brazil
    Nephron Physiol 118:p62-5. 2011
  6. pmc CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
    Martin Konrad
    Department of Pediatrics, University of Munster, Waldeyerstrasse 22, 48149 Munster, Germany
    J Am Soc Nephrol 19:171-81. 2008
  7. ncbi Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome
    Isabelle Normand de la Tranchade
    Université d Odontologie de Bordeaux II, Service d Odontologie Pédiatrique, 16 cours de la Marne, 33000 Bordeaux, France
    J Clin Pediatr Dent 27:171-5. 2003
  8. ncbi Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure
    J C Nicholson
    Department of Nephrology, Royal Children s Hospital, Parkville, Victoria, Australia
    Pediatr Nephrol 9:74-6. 1995
  9. ncbi Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC
    Toshihiro Tajima
    Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Sapporo 060 0835, Japan
    Pediatr Nephrol 18:1280-2. 2003
  10. ncbi Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family
    L M Paula
    Dental Anomalies Clinic, University Hospital of Brasilia, Department of Dentistry, Faculty of Health Science, University of Brasilia, SMDB Conjunto 29, Lote 3, Lago Sul, Brasilia 71680 290, DF, Brazil
    Arch Oral Biol 50:237-42. 2005

Detail Information

Publications211 found, 100 shown here

  1. ncbi Neonatal nephrocalcinosis in association with glucose-galactose malabsorption
    Amitava Pahari
    Nephro Urology Unit, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK
    Pediatr Nephrol 18:700-2. 2003
    We report a case of severe nephrocalcinosis related to hypercalcaemia in a newborn with glucose-galactose malabsorption...
  2. ncbi Development of nephrocalcinosis in very low birth weight infants
    Guido Hein
    Pediatric Clinic, Beurhausstrasse 40, 44137 Dortmund, Germany
    Pediatr Nephrol 19:616-20. 2004
    ..However, Ca and P supplementation can be associated with some risks, for example development of nephrocalcinosis. We investigated pathophysiological risk factors in premature very low birth weight (VLBW) infants associated ..
  3. ncbi Nephrocalcinosis: molecular insights into calcium precipitation within the kidney
    John A Sayer
    School of Cell and Molecular Biosciences, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, UK
    Clin Sci (Lond) 106:549-61. 2004
    b>Nephrocalcinosis may be defined as a generalized increase in the calcium content of the kidneys. This renal calcification may occur at a molecular, microscopic or macroscopic level leading to progressive amounts of renal damage...
  4. pmc Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis
    Tilman Breiderhoff
    Max Delbruck Center for Molecular Medicine, 13125 Berlin, Germany
    Proc Natl Acad Sci U S A 109:14241-6. 2012
    ..that claudin-10 determines paracellular sodium permeability, and that its loss leads to hypermagnesemia and nephrocalcinosis. In isolated perfused TAL tubules of claudin-10-deficient mice, paracellular permeability of sodium is ..
  5. ncbi Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature
    Hercilio Martelli-Júnior
    Stomatology Clinic, Dental School, State University of Montes Claros, Brazil
    Nephron Physiol 118:p62-5. 2011
    ..electron microscopy of the teeth revealed hypoplastic enamel, and a renal ultrasound detected bilateral nephrocalcinosis, leading to a diagnosis of AI and nephrocalcinosis syndrome...
  6. pmc CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
    Martin Konrad
    Department of Pediatrics, University of Munster, Waldeyerstrasse 22, 48149 Munster, Germany
    J Am Soc Nephrol 19:171-81. 2008
  7. ncbi Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome
    Isabelle Normand de la Tranchade
    Université d Odontologie de Bordeaux II, Service d Odontologie Pédiatrique, 16 cours de la Marne, 33000 Bordeaux, France
    J Clin Pediatr Dent 27:171-5. 2003
    ..Renal symptoms include medullary nephrocalcinosis without any apparent cause, and evolution to a renal failure...
  8. ncbi Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure
    J C Nicholson
    Department of Nephrology, Royal Children s Hospital, Parkville, Victoria, Australia
    Pediatr Nephrol 9:74-6. 1995
    ..two sisters from a consanguineous marriage with the syndrome of renal magnesium wasting, hypercalciuria and nephrocalcinosis are presented...
  9. ncbi Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC
    Toshihiro Tajima
    Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Sapporo 060 0835, Japan
    Pediatr Nephrol 18:1280-2. 2003
    Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC, MIN 248250) is a rare autosomal recessive tubular disorder that eventually progresses to renal failure...
  10. ncbi Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family
    L M Paula
    Dental Anomalies Clinic, University Hospital of Brasilia, Department of Dentistry, Faculty of Health Science, University of Brasilia, SMDB Conjunto 29, Lote 3, Lago Sul, Brasilia 71680 290, DF, Brazil
    Arch Oral Biol 50:237-42. 2005
    A rare syndrome associating amelogenesis imperfecta (AI) with nephrocalcinosis has been reported...
  11. ncbi Adverse renal and metabolic effects associated with oral sodium phosphate bowel preparation
    Eliot C Heher
    Department of Medicine, Division of Nephrology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Clin J Am Soc Nephrol 3:1494-503. 2008
    ..disturbances as well as acute kidney injury (AKI) in a syndrome termed phosphate nephropathy (a form of nephrocalcinosis)...
  12. pmc Diagnostic examination of the child with urolithiasis or nephrocalcinosis
    Bernd Hoppe
    Department of Pediatrics, Division of Pediatric Nephrology, University Children s Hospital Cologne, Kerpenerstr 62, 50924, Cologne, Germany
    Pediatr Nephrol 25:403-13. 2010
    Urolithiasis and nephrocalcinosis are more frequent in children then currently anticipated, but still remain under- or misdiagnosed in a significant proportion of patients, since symptoms and signs may be subtle or misleading...
  13. ncbi Hyperoxaluria is reduced and nephrocalcinosis prevented with an oxalate-degrading enzyme in mice with hyperoxaluria
    Danica Grujic
    Altus Pharmaceuticals, 625 Putnam Avenue, Cambridge, MA 02139, USA
    Am J Nephrol 29:86-93. 2009
    Hyperoxaluria is a major risk factor for recurrent urolithiasis and nephrocalcinosis. We tested an oral therapy with a crystalline, cross-linked formulation of oxalate-decarboxylase (OxDc-CLEC) on the reduction of urinary oxalate and ..
  14. ncbi Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
    S Weber
    Department of Pediatrics, Philipps University, Marburg, Germany
    J Am Soc Nephrol 12:1872-81. 2001
    Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder that is frequently associated with progressive renal failure...
  15. ncbi The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease
    Willy Günther
    Zentrum fur Molekulare Neurobiologie Hamburg, ZMNH, Universitat Hamburg, Falkenried 94, 20246 Hamburg, Germany
    Pflugers Arch 445:456-62. 2003
    ..by proteinuria, hyperphosphaturia and hypercalciuria, which eventually lead to kidney stones and nephrocalcinosis. As it was unclear how mutations in a chloride channel might cause these symptoms, we and others have ..
  16. pmc Claudin-16 and claudin-19 function in the thick ascending limb
    Jianghui Hou
    Washington University School of Medicine, Division of Renal Diseases, St Louis, Missouri, USA
    Curr Opin Nephrol Hypertens 19:483-8. 2010
    ..This review describes recent findings of the physiological function of claudin-16 and claudin-19 underlying normal transport function for magnesium reabsorption in the TAL...
  17. ncbi Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle
    A Blanchard
    Département de Physiologie et Radio Isotopes, Universite Pierre et Marie Curie, INSERM U356, Institut Fédératif de Recherche 58, Laboratoire de Genetique Moleculaire, Hôpital Universitaire Européen Georges Pompidou, Paris, France
    Kidney Int 59:2206-15. 2001
    ..However, no functional experiments have demonstrated that TAL magnesium and calcium reabsorption were actually impaired in patients with HHS...
  18. pmc Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice
    Qiaoli Li
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA
    Lab Invest 94:623-32. 2014
    Ectopic mineralization of renal tissues in nephrocalcinosis is a complex, multifactorial process...
  19. ncbi Unusual clinical presentation and possible rescue of a novel claudin-16 mutation
    Dominik Muller
    Department of Pediatric Nephrology, Charite Children s Hospital and Center for Cardiovascular Research, 12200 Berlin, Germany
    J Clin Endocrinol Metab 91:3076-9. 2006
    Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is caused by a dysfunction of Claudin-16 (CLDN16) and characterized by renal wasting of Mg(2+) and Ca(2+).
  20. ncbi Two cases of familial hypomagnesemia with hypercalciuria and nephrocalcinosis: dental findings
    N Cetrullo
    Department of Dental Sciences, Special Care Unit, Alma Mater Studiorum University of Bologna, Italy
    Eur J Paediatr Dent 7:146-50. 2006
    ..FHHNC is a rare syndrome, genetically investigated since 1999, transmitted as an autosomal recessive disease. It is related to a mutation of PCN-1 gene which encodes for a tight junction protein named paracellin...
  21. ncbi Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study
    Velibor Tasic
    University Children s Hospital, 17 Vodnjanska, 1000 Skopje, Macedonia
    Pediatr Nephrol 20:1003-6. 2005
    ..The ultrasound examination of his kidneys demonstrated bilateral diffuse medullary nephrocalcinosis. His serum and urine biochemistry revealed hypomagnesemia (0...
  22. ncbi Regulatory T cells improve nephrocalcinosis but not dystrophic cardiac calcinosis in DBA/2 mice
    Alexander H Kirsch
    Clinical Division of Nephrology, Department of Internal Medicine, Medical University of Graz, Graz, Austria
    Am J Pathol 183:382-90. 2013
    b>Nephrocalcinosis is characterized by aberrant deposition of calcium in the kidneys and is seen in phosphate nephropathy, primary hyperparathyroidism, and distal renal tubular acidosis...
  23. pmc SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling
    Kishan Kumar Chudasama
    K G Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, N 5020 Bergen, Norway
    Am J Hum Genet 93:150-7. 2013
    ..Normal PI3K activity is critical for adipose differentiation and insulin signaling; the mutated PIK3R1 therefore provides a unique link among lipodystrophy, growth, and insulin signaling. ..
  24. pmc Mutations in PIK3R1 cause SHORT syndrome
    David A Dyment
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada
    Am J Hum Genet 93:158-66. 2013
    ..Our findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway...
  25. ncbi The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis
    R V Thakker
    Medical Research Council Molecular Endocrinology Group, Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Curr Opin Nephrol Hypertens 7:385-8. 1998
    ..These molecular genetic studies have increased our understanding of the renal tubular mechanisms that regulate mineral homeostasis...
  26. ncbi The origin of nephrocalcinosis, Randall's plaque and renal stones: a cell biology viewpoint
    Giovanni Gambaro
    Division of Nephrology, Renal Program, Catholic University Hospital, Rome, Italy
    Arch Ital Urol Androl 81:166-70. 2009
    Medullary nephrocalcinosis is a rare condition typically observed in metabolic conditions prone to renal calcium stones. Randall's plaques are very frequently observed in the common idiopathic calcium-oxalate nephrolithiasis...
  27. pmc Medullary nephrocalcinosis, distal renal tubular acidosis and polycythaemia in a patient with nephrotic syndrome
    Suneth Karunarathne
    National Hospital of Sri Lanka, Regent Street, Colombo 8, Sri Lanka
    BMC Nephrol 13:66. 2012
    Medullary nephrocalcinosis and distal renal tubular acidosis are closely associated and each can lead to the other...
  28. pmc Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
    Felix Claverie-Martin
    Unidad de Investigacion, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain
    PLoS ONE 8:e53151. 2013
    Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure...
  29. ncbi The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea
    Satu Wedenoja
    Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Kidney Int 74:1085-93. 2008
    ..The main feature of the renal injury was nephrocalcinosis, without hypercalciuria or nephrolithiasis with small sized kidneys and commensurately reduced glomerular ..
  30. ncbi Lanthanum carbonate inhibits intestinal oxalate absorption and prevents nephrocalcinosis after oxalate loading in rats
    Stef Robijn
    Laboratory of Pathophysiology, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp, Antwerp, Belgium
    J Urol 189:1960-6. 2013
    ..urinary oxalate excretion (secondary hyperoxaluria) and calcium oxalate crystal formation, contributing to nephrocalcinosis/lithiasis...
  31. ncbi Retention of fetuin-A in renal tubular lumen protects the kidney from nephrocalcinosis in rats
    Isao Matsui
    Department of Geriatric Medicine and Nephrology, Osaka University Graduate School of Medicine, Osaka, Japan
    Am J Physiol Renal Physiol 304:F751-60. 2013
    ..However, the mechanism how fetuin-A protects kidneys from nephrocalcinosis remains uncertain...
  32. pmc Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
    Graciana Jaureguiberry
    Centre for Nephrology, University College London, London, UK
    Nephron Physiol 122:1-6. 2012
    ..Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood.
  33. ncbi Hydrochlorothiazide in CLDN16 mutation
    Bettina Zimmermann
    Klinik fur Kinder und Jugendliche, Friedrich Alexander University of Erlangen Nuremberg, Loschgestr 15, D 91054 Erlangen, Germany
    Nephrol Dial Transplant 21:2127-32. 2006
    Hydrochlorothiazide (HCT) is applied in the therapy of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) caused by claudin-16 (CLDN16) mutation...
  34. pmc PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy
    Christel Thauvin-Robinet
    Equipe d Accueil 4271, Génétique des Anomalies du Developpement, Universite de Bourgogne, F 21079 Dijon, France
    Am J Hum Genet 93:141-9. 2013
    ....
  35. ncbi High incidence of nephrocalcinosis in extremely preterm infants treated with dexamethasone
    David J Cranefield
    Department of Radiology, National Women s Hospital, Private Bag 92189, Auckland, New Zealand
    Pediatr Radiol 34:138-42. 2004
    The use of postnatal corticosteroids to treat or prevent chronic lung disease is common in very preterm infants. Medullary nephrocalcinosis has been noted as a possible side effect.
  36. ncbi Focal segmental glomerulosclerosis, proteinuria and nephrocalcinosis associated with renal tubular acidosis
    Rasheed A Balogun
    Department of Medicine, Nephrology Division, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA
    Nephrol Dial Transplant 17:308-10. 2002
  37. pmc Nephrocalcinosis in animal models with and without stones
    Saeed R Khan
    Department of Pathology, Center for the Study of Lithiasis, College of Medicine, University of Florida, Gainesville, FL, USA
    Urol Res 38:429-38. 2010
    b>Nephrocalcinosis is the deposition of calcium salts in renal parenchyma and can be intratubular or interstitial. Animal model studies indicate that intratubular nephrocalcinosis is a result of increased urinary supersaturation...
  38. ncbi Is amelogenesis imperfecta an indication for renal examination?
    Lindsay Hunter
    Dental Health and Biological Sciences, Cardiff University, Wales College of Medicine, Cardiff, UK
    Int J Paediatr Dent 17:62-5. 2007
    ..The term 'amelogenesis imperfecta' (AI) describes a diverse group of hereditary conditions primarily affecting the quality and/or quantity of dental enamel...
  39. ncbi Is nephrocalcinosis in preterm neonates harmful for long-term blood pressure and renal function?
    Joana E Kist-van Holthe
    Department of Pediatrics, Leiden University Medical Center, PO Box 9600, 2300RC Leiden, The Netherlands
    Pediatrics 119:468-75. 2007
    The aim of our study was to examine long-term effects of nephrocalcinosis in prematurely born children.
  40. ncbi Effect of the calcimimetic NPS R-467 on furosemide-induced nephrocalcinosis in the young rat
    Anirut Pattaragarn
    Section of Pediatric Nephrology, Children s Mercy Hospital, University of Missouri Kansas City, Kansas City, Missouri 64108, USA
    Kidney Int 65:1684-9. 2004
    Furosemide induces nephrocalcinosis in both humans and animals...
  41. pmc Function and regulation of claudins in the thick ascending limb of Henle
    Dorothee Gunzel
    Department of Clinical Physiology, Charite, Campus Benjamin Franklin, Berlin, Germany
    Pflugers Arch 458:77-88. 2009
    ..Mg(2+) wasting in patients with the rare inherited disorder of familial hypercalciuric hypomagnesemia with nephrocalcinosis (FHHNC)...
  42. ncbi Preconditioning of the distal tubular epithelium of the human kidney precedes nephrocalcinosis
    Anja Verhulst
    Department of Nephrology Hypertension, University of Antwerp, Belgium
    Kidney Int 68:1643-7. 2005
    Preterm neonates and renal transplant patients frequently develop nephrocalcinosis. Experimental studies revealed that crystal retention in the distal nephron, a process that may lead to nephrocalcinosis, is limited to proliferating/..
  43. ncbi Report of a family with two different hereditary diseases leading to early nephrocalcinosis
    Rosa Vargas-Poussou
    Département de Pédiatrie Médicale et Faculté de Médecine et de Pharmacie Rouen, Centre Hospitalier Universitaire de Rouen, Rouen, France
    Pediatr Nephrol 23:149-53. 2008
    The etiologies of early onset nephrocalcinosis in consanguineous families include five major inherited recessive disorders: primary hyperoxaluria (PH), familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), distal renal ..
  44. ncbi The relationship of amelogenesis imperfecta and nephrocalcinosis syndrome
    Zuhal Kirzioglu
    Suleyman Demirel University, Faculty of Dentistry, Department of Paediatric Dentistry, Isparta, Turkiye
    Med Oral Patol Oral Cir Bucal 14:e579-82. 2009
    To analyze the prevalence and associated oral findings of nephrocalcinosis in a group of patients affected with amelogenesis imperfecta (AI). The relationship between types of AI and nephrocalcinosis were also evaluated.
  45. ncbi Etiology of nephrocalcinosis in preterm neonates: association of nutritional intake and urinary parameters
    E A Schell-Feith
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Kidney Int 58:2102-10. 2000
    b>Nephrocalcinosis (NC) in preterm neonates has been described frequently, and small-scale studies suggest an unfavorable effect on renal function. The etiologic factors have not yet been fully clarified...
  46. pmc Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations
    Astrid Godron
    Département de génétique, Hopital Europeen Georges Pompidou, Paris, France
    Clin J Am Soc Nephrol 7:801-9. 2012
    Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal tubular disease. It is caused by mutations in CLDN16 and CLDN19, encoding claudin-16 and -19, respectively...
  47. ncbi Nephrocalcinosis in preterm infants: a single center experience
    Bernd Hoppe
    Pediatric Nephrology, University Children s Hospital, Josef Stelzmann Strasse 9, 50924 Cologne, Germany
    Pediatr Nephrol 17:264-8. 2002
    The risk of nephrocalcinosis in preterm infants is considerable, but conflicting numbers are given for the actual incidence (10-65%). Furosemide induced hypercalciuria is said to be the main risk factor...
  48. ncbi [Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities]
    C Loris Pablo
    Unidad de Nefrología Pediátrica, Hospital Infantil Universitario Miguel Servet, Zaragoza, Spain
    An Pediatr (Barc) 61:502-8. 2004
    Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an unusual disease that usually leads to end-stage renal failure...
  49. ncbi The effect of sodium thiosulfate administration on nephrocalcinosis in a rat model
    Chad A Lagrange
    Division of Urology, Department of Surgery, University of Kentucky Medical Center, Lexington, Kentucky, USA
    J Endourol 23:529-33. 2009
    ..We proposed a rat model to evaluate whether STS has any possible beneficial effect on calcium nephrolithiasis or nephrocalcinosis.
  50. ncbi Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome
    A Moudgil
    Ahmanson Department of Pediatrics, Cedars Sinai Medical Center and UCLA School of Medicine, Los Angeles, CA, USA
    Pediatr Nephrol 15:60-2. 2000
    ..hypokalemia, alkalosis, reduced plasma renin activity (PRA), low aldosterone levels, and occasionally nephrocalcinosis. Here we describe a 13-year-old boy who presented with severe hypertension, hypokalemia, low PRA and ..
  51. ncbi Nephrocalcinosis in very low birth weight infants: a single center experience
    Krit Ketkeaw
    Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand
    J Med Assoc Thai 87:S72-7. 2004
    To determine the incidence and risk factors of nephrocalcinosis in very low birth weight infants.
  52. ncbi Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease
    Muhammad Naeem
    Department of Biotechnology, Faculty of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
    Am J Nephrol 34:241-8. 2011
    Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare renal tubular disorder complicated by progressive renal failure during childhood or adolescence...
  53. pmc Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations
    Stanislas Faguer
    Service de Néphrologie et Immunologie Clinique, Centre de Référence des Maladies Rénales Rares, CHU Toulouse, Toulouse Cedex 9, France
    Clin J Am Soc Nephrol 6:355-60. 2011
    The objective of this study was to describe the renal and extrarenal findings in patients with recessively inherited familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) associated with CLDN19 mutations.
  54. pmc Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex
    Jianghui Hou
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Clin Invest 118:619-28. 2008
    ..Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an inherited disorder caused by mutations in the genes encoding the TJ proteins claudin-16 (CLDN16)..
  55. pmc Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16
    P Jaya Kausalya
    Epithelial Cell Biology Laboratory, Institute of Molecular and Cell Biology, Singapore
    J Clin Invest 116:878-91. 2006
    ..in the CLDN16 gene have been identified in patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), a disease of excessive renal Mg2+ and Ca2+ excretion...
  56. ncbi Consumption of krill protein concentrate prevents early renal injury and nephrocalcinosis in female Sprague-Dawley rats
    Joseph C Gigliotti
    Animal and Nutritional Sciences, West Virginia University, P O Box 6108, Morgantown, WV 26506, USA
    Urol Res 39:59-67. 2011
    ..b>Nephrocalcinosis, a common renal abnormality found in rats, has been implicated in subsequent renal failure...
  57. ncbi Acute phosphate nephropathy and renal failure
    Simon Desmeules
    N Engl J Med 349:1006-7. 2003
  58. ncbi Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasis
    Przemyslaw Sikora
    Division of Pediatric Nephrology, University Children s Hospital, Josef Stelzmann Strasse 9, 50924 Cologne, Germany
    Pediatr Nephrol 18:996-9. 2003
    A crucial role for cell-crystal interactions in the development of urolithiasis (UL) and nephrocalcinosis (NC) was previously observed in experiments with different cell lines mimicking renal epithelial cells...
  59. ncbi Absorptive hyperoxaluria leads to an increased risk for urolithiasis or nephrocalcinosis in cystic fibrosis
    Bernd Hoppe
    University Children s Hospital Cologne, Germany, USA
    Am J Kidney Dis 46:440-5. 2005
    Hyperoxaluria has been incriminated to account for the increased incidence of urolithiasis or nephrocalcinosis in patients with cystic fibrosis (CF)...
  60. ncbi Hypercalciuria and nephrocalcinosis in cystic fibrosis patients
    Ugur Ozcelik
    Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 46:22-7. 2004
    The objective of this study was to determine the frequency of nephrocalcinosis and hypercalciuria in cystic fibrosis (CF) patients, and to search possible causes of this phenomenon. Forty-three CF children (24 boys, 19 girls; mean age 64...
  61. ncbi Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome
    E A Ismail
    Department of Paediatrics, Farwaniya Hospital, Kuwait
    Eur J Pediatr 156:957-62. 1997
    ..At the age of 14 months, ultrasound studies in the girl showed medullary nephrocalcinosis which has not been previously described in association with CA II, while cerebral CT scan revealed dilated ..
  62. ncbi Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings
    F Manz
    Eur J Pediatr 128:67-79. 1978
    Polyuria, hyposthenuria, hypomagnesemia, hypercalciuria, advanced nephrocalcinosis, low citrate excretion and low glomerular filtration rates were observed in two female siblings who were followed over 10 years...
  63. pmc Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene
    Geeta Hampson
    Department of Chemical Pathology, St Thomas Hospital, London, UK
    BMC Nephrol 9:12. 2008
    Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder of renal calcium and magnesium wasting frequently complicated by progressive chronic renal failure in childhood or adolescence.
  64. ncbi Cinacalcet-associated graft dysfunction and nephrocalcinosis in a kidney transplant recipient
    Luon W Peng
    Orthopedic Research Lab, Department of Medicine, University of Arizona, Tucson 85724, USA
    Am J Med 120:e7-9. 2007
  65. ncbi A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)(2) vitamin D levels
    Amita Sharma
    Pediatric Nephrology Unit, Massachusetts General Hospital for Children and Harvard Medical School, Boston, MA 02114, USA
    Clin Exp Nephrol 15:572-6. 2011
    ..elevated 1,25(OH)(2) vitamin D levels, possibly due to increase prostaglandin E(2) levels, and medullary nephrocalcinosis. Treatment with COX-2 inhibitors resolved her hypercalciuria and improved her height and weight; renal ..
  66. ncbi Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III
    Toru Watanabe
    Department of Pediatrics, Niigata City General Hospital, 2 6 1 Shichikuyama, 950 8739, Niigata, Japan
    Pediatr Nephrol 20:676-8. 2005
    ..We describe a patient with classic Bartter syndrome who exhibited renal cysts and nephrocalcinosis. Direct sequencing analysis of the chloride channel CLC-Kb gene identified a heterozygous nonsense mutation (..
  67. ncbi Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
    Jameela A Kari
    Department of Pediatrics, King Abdulaziz University Hospital, Jeddah, Saudi Arabia
    Pediatr Nephrol 18:506-10. 2003
    Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive tubular disorder that is frequently associated with progressive renal failure...
  68. ncbi Hypocitraturia as a risk factor for nephrocalcinosis after kidney transplantation
    Ludwig Stapenhorst
    Division of Pediatric Nephrology, Department of Pediatrics, University Children s Hospital, 50924, Cologne, Germany
    Pediatr Nephrol 20:652-6. 2005
    ..Both findings can increase the risk for urolithiasis or nephrocalcinosis.
  69. pmc Urinary oxalate excretion in urolithiasis and nephrocalcinosis
    T J Neuhaus
    Nephrology Unit, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Arch Dis Child 82:322-6. 2000
    To investigate urinary oxalate excretion in children with urolithiasis and/or nephrocalcinosis and to classify hyperoxaluria (HyOx).
  70. ncbi Renal failure due to acute nephrocalcinosis following oral sodium phosphate bowel cleansing
    Glen S Markowitz
    Department of Pathology, Columbia College of Physicians and Surgeons, New York, NY 10032, USA
    Hum Pathol 35:675-84. 2004
    b>Nephrocalcinosis is a chronic tubulointerstitial nephropathy characterized by tubular calcium phosphate deposition and slowly progressive renal insufficiency...
  71. ncbi Oral alendronate therapy for severe vitamin D intoxication of the infant with nephrocalcinosis
    Mehmet Emre Atabek
    Department of Pediatrics, Section of Pediatric Endocrinology, School of Medicine, Selcuk University, Konya, Turkey
    J Pediatr Endocrinol Metab 19:169-72. 2006
    ..alendronate for the treatment of hypercalcemia due to vitamin D intoxication in a 7 month-old infant with nephrocalcinosis. The serum calcium levels were normalized without complications...
  72. ncbi Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations
    Ju Hyung Kang
    Department of Pediatrics, Seoul National University Children s Hospital, 28 Yongon Dong, Chongro Gu, 110 744 Seoul, Korea
    Pediatr Nephrol 20:1490-3. 2005
    Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder, is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the ..
  73. ncbi Renal failure and nephrocalcinosis associated with oral sodium phosphate bowel cleansing: clinical patterns and renal biopsy findings
    Gulfiliz Gonlusen
    Department of Pathology, The Methodist Hospital, Baylor College of Medicine, Houston, Texas, USA
    Arch Pathol Lab Med 130:101-6. 2006
    ..The renal biopsies in each of these patients showed nephrocalcinosis as the possible cause of ARF...
  74. ncbi Bilateral uraemic optic neuritis complicating acute nephrocalcinosis
    Paul Manley
    Department of Nephrology, Auckland City Hospital, Private Bag 92024, Auckland, New Zealand
    Nephrol Dial Transplant 21:2957-8. 2006
  75. ncbi Nephrolithiasis and nephrocalcinosis in rats with small bowel resection
    R Corey O'Connor
    Department of Urology, University of Chicago, Chicago, IL, USA
    Urol Res 33:105-15. 2005
    ..This new rat model of nephrolithiasis and nephrocalcinosis resembles the pattern of urinary abnormalities and tissue calcification that may be seen in humans with small ..
  76. ncbi A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype
    Sami A Sanjad
    Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon
    Pediatr Nephrol 22:503-8. 2007
    Familial hypomagnesemic hypercalciuria and nephrocalcinosis (FHHNC [MIM 248250]) is a rare renal tubular disorder characterized by impaired reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop (tALH), causing ..
  77. ncbi A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis
    Lara Cheidde
    Nephrology Division, Universidade Federal de Sao Paulo UNIFESP, Sao Paulo, Brazil
    Pediatrics 112:1361-7. 2003
    ..The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers (10 and 15 years of age) with familial distal renal tubular acidosis (dRTA), nephrocalcinosis, and failure to thrive.
  78. ncbi Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria
    Guido F Laube
    Nephrourology Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Pediatr Nephrol 18:712-3. 2003
    ..with 3-methylglutaconic aciduria in whom renal ultrasonography showed echogenic medullae consistent with nephrocalcinosis. One patient also developed medullary cysts...
  79. ncbi Hypocitraturia is one of the major risk factors for nephrocalcinosis in very low birth weight (VLBW) infants
    Przemyslaw Sikora
    Division of Pediatric Nephrology, University Children s Hospital Cologne, Cologne, Germany
    Kidney Int 63:2194-9. 2003
    Very low birth weight (VLBW) infants are at risk to develop nephrocalcinosis (NC). NC may result from spontaneous or therapy-induced imbalance between promoters and inhibitors of crystallization in the urine...
  80. ncbi Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease
    O Devuyst
    Division of Nephrology and Cell Unit, Christian de Duve Institute of Cellular Pathology, University of LouvainnMedical School, B 1200 Brussels, Belgium
    Hum Mol Genet 8:247-57. 1999
    ..These results help to elucidate further the patho-physiological basis of the renal tubular defects of Dent's disease...
  81. ncbi Effects of simultaneous increases in dietary phosphorus and magnesium concentrations on nephrocalcinosis and kidney function in female rats
    Hiroshi Matsuzaki
    Department of Nutrition, Junior College of Tokyo University of Agriculture, 1 1 1 Sakuragaoka, Setagaya Ku, Tokyo 156 8502, Japan
    Magnes Res 17:14-9. 2004
    ..in dietary phosphorus (P) and magnesium (Mg) concentrations while maintaining a constant P:Mg ratio on nephrocalcinosis and kidney function in female rats was investigated. Female Wistar rats were fed a control diet (3.12 g P, 0...
  82. ncbi Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome
    Christiaan S van Woerden
    Laboratory for Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children s Hospital AMC, 1100 DD Amsterdam, The Netherlands
    Nephrol Dial Transplant 18:273-9. 2003
    ..To date the relationship between biochemical parameters and outcome is unclear. We therefore undertook a national cohort study on biochemical and clinical parameters and outcome in PH1...
  83. pmc ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells
    W Gunther
    Zentrum für Molekulare Neurobiologie Hamburg ZMNH, Universitat Hamburg, Martinistrasse 85, D 20246 Hamburg, Germany
    Proc Natl Acad Sci U S A 95:8075-80. 1998
    ....
  84. ncbi Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene
    S Weber
    Department of Pediatrics, Philipps University, Marburg, Germany
    Eur J Hum Genet 8:414-22. 2000
    Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC, MIM 248250) is a complex renal tubular disorder characterised by hypomagnesaemia, hypercalciuria, advanced nephrocalcinosis, hyposthenuria and progressive renal ..
  85. pmc Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)
    S E Lloyd
    MRC Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom
    J Clin Invest 99:967-74. 1997
    ..proximal renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. The disorder, which has a familial predisposition and occurs predominantly in males, has similarities to ..
  86. ncbi The concentrations and ratio of dietary calcium and phosphorus influence development of nephrocalcinosis in female rats
    Kevin A Cockell
    Nutrition Research Division, Food Directorate, Health Products and Food Branch, Health Canada, 2203C Banting Research Centre, Ottawa, ON, Canada K1A 0L2
    J Nutr 132:252-6. 2002
    b>Nephrocalcinosis (NC) in female rats can complicate the interpretation of nutritional or toxicological studies involving the kidney...
  87. ncbi Greater effect of dietary potassium tripolyphosphate than of potassium dihydrogenphosphate on the nephrocalcinosis and proximal tubular function in female rats from the intake of a high-phosphorus diet
    H Matsuzaki
    Department of Nutrition, Junior College of Tokyo University of Agriculture, Japan
    Biosci Biotechnol Biochem 65:928-34. 2001
    ..and potassium tripolyphosphate (K5P3O10) as dietary phosphorus sources could differentially effect the nephrocalcinosis and proximal tubular function in female rats...
  88. ncbi Ibandronate for the treatment of hypercalcemia or nephrocalcinosis in patients with multiple myeloma and acute renal failure: Case reports
    Dirk Henrich
    Medizinische Klinik A, Klinikum Ludwigshafen, Ludwigshafen, Germany
    Acta Haematol 116:165-72. 2006
    ..This causes hypercalcemia. When left untreated, hypercalcemia leads to nephrocalcinosis, impairment of kidney function, and eventually renal failure...
  89. ncbi Carbonic anhydrase type II deficiency
    Roel J Bolt
    Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands
    Am J Kidney Dis 46:A50, e71-3. 2005
  90. ncbi Decreased urinary citrate excretion in type 1a glycogen storage disease
    D A Weinstein
    Division of Endocrinology, Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
    J Pediatr 138:378-82. 2001
    ..The combination of low citrate excretion and hypercalciuria appears to be important in the pathogenesis of nephrocalcinosis and nephrolithiasis...
  91. ncbi Severe renal failure and nephrocalcinosis in anorexia nervosa
    Huy A Tran
    Med J Aust 184:46; author reply 46. 2006
  92. ncbi Pre- and intra-operative findings in primary hyperparathyroidism
    F Debruyne
    University Hospitals, Leuven
    Acta Otorhinolaryngol Belg 55:129-38. 2001
    ..Hyperplasia patients were, on the average, younger and double adenoma patients older. The female/male ratio was 1/1 for hyperplasia and 15/1 for double adenoma...
  93. ncbi [Hypercalcemia in sarcoidosis--case report, prevalence, pathophysiology and therapeutic options]
    D Ackermann
    Klinik für Nephrologie und Hypertonie, Universitatsspital Bern
    Ther Umsch 64:281-6. 2007
    ..Alternatively, treatment with chloroquine or ketoconazole can be established. If isolated hypercalciuria without hypercalcemia is present with evidence for recurrent nephrolithiasis, patients can be treated with a thiazide diuretic...
  94. ncbi Familial hypomagnesemia-hypercalciuria in 2 siblings
    E Kuwertz-Bröking
    Department of Pediatrics, University Children s Hospital, University of Munster, Germany
    Clin Nephrol 56:155-61. 2001
    Familial hypomagnesemia-hypercalciuria with nephrocalcinosis and renal insufficiency in childhood is a rarely described disease...
  95. ncbi [Pathophysiology and diagnosis of nephrocalcinosis]
    D Fuster
    Klinik und Poliklinik für Nephrologie und Hypertonie, Universitätspital, Bern
    Ther Umsch 64:287-90. 2007
    b>Nephrocalcinosis is the result of a myriad of hereditary or acquired diseases in the calcium, phosphate or oxalate metabolism that lead to deposition of calcium containing precipitates within the kidney...
  96. ncbi [Primary hyperoxaluria in children in central Tunisia]
    Jalel Chemli
    Service de Pediatrie, CHU Sahloul Sousse
    Tunis Med 85:513-8. 2007
    ..The goal of this work is to analyze clinical and therapeutics particularities of primary hyperoxaluria in children in Tunisian centre...
  97. ncbi X-linked recessive nephrolithiasis: presentation and diagnosis in children
    S J Schurman
    Department of Pediatrics, University of South Florida College of Medicine, St Petersburg, Florida, USA
    J Pediatr 132:859-62. 1998
    ..recessive nephrolithiasis is a recently described disease characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal failure, associated with mutations in a renal chloride channel gene, chloride channel ..
  98. ncbi Renal tubular impairment in children with idiopathic hypercalciuria
    Sylva Skalova
    Department of Pediatrics, Faculty of Medicine, Charles University, Prague, Czech Republic
    Acta Medica (Hradec Kralove) 49:109-11. 2006
    ..Ultrasound examination revealed urolithiasis (n=4) and nephrocalcinosis (n=1)...
  99. ncbi Nephrocalcinosis in siblings--familial hypomagnesemia, hypercalciuria with nephrocalcinosis (FHHNC syndrome)
    M Ram Prabahar
    Department of Nephrology, Madras Medical College and Government General Hospital, Chennai
    J Assoc Physicians India 54:497-500. 2006
    Familial Hypomagnesemia, Hypercalciuria with Nephrocalcinosis is a rare autosomal recessive inherited disease associated with renal failure...
  100. ncbi Onset of nephrocalcinosis depends on dietary phosphorus concentration in male rats fed a magnesium-deficient diet
    H Matsuzaki
    Department of Nutrition, Junior College of Tokyo University of Agriculture, 1 1 1 Sakuragaoka, Setagaya Ku, Tokyo 156 8502, Japan
    Magnes Res 19:255-60. 2006
    Although a magnesium (Mg)-deficient diet is generally known to induce nephrocalcinosis, our previous study observed that despite the administration of a Mg-deficient diet, the kidney calcium (Ca) and phosphorus (P) concentrations were not ..
  101. ncbi Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1)
    Paul A Stehberger
    Institute of Physiology and Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland
    J Am Soc Nephrol 18:1408-18. 2007
    ..Homozygous mice had nephrocalcinosis associated with hypercalciuria, hyperphosphaturia, and hypocitraturia...

Research Grants29

  1. Effect of hyperoxaluria on gene expression in the kidney
    Gill Rumsby; Fiscal Year: 2005
    ..caused by endogenous oxalate overproduction, with deposition of excess oxalate as either kidney stones or nephrocalcinosis. Each disease has marked clinical heterogeneity, apparently unrelated to the degree of enzyme deficiency, ..
  2. Control of Renal Glutaminase Expression during Acidosis
    Norman P Curthoys; Fiscal Year: 2012
    ..Chronic acidosis causes mental retardation in children and osteomalacia, nephrocalcinosis and urolithiasis in adults...
  3. The Effect of Gastric Bypass Surgery on Renal Function and Metabolism
    Benjamin K Canales; Fiscal Year: 2013
    ..RYGB patients will develop sustained hyperoxaluria post-operatively, and a subset will develop kidney stones, nephrocalcinosis, impaired renal function, or even renal failure due to oxalate nephropathy...
  4. Crystal Associated Renal Inflammation and Treatment Options
    Saeed R Khan; Fiscal Year: 2012
    ..Results of such studies will improve the understanding of CaOx induced inflammation in nephrocalcinosis and nephrolithiasis...
  5. Hepatocyte - Based Therapies of Primary Hyperoxaluria 1
    Namita Roy Chowdhury; Fiscal Year: 2010
    ..Increased urinary oxalate excretion causes nephrocalcinosis and urolithiasis, leading to renal failure and consequent tissue oxalosis with life-threatening complications...
  6. BIOCHEMICAL AND BIOPHYSICAL NATURE OF CLAUDIN-16 AND CLAUDIN-19 CHANNELS
    Jianghui Hou; Fiscal Year: 2013
    ..are responsible for the hereditary renal disease FHHNC (Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis)...
  7. Role of renal sodium-phosphate co-transporter NaPI-Iic in phosphate homeostasis
    Clemens Bergwitz; Fiscal Year: 2011
    ..Abnormal renal calcium and phosphate handling is seen in patients with nephrocalcinosis, nephrolithiasis and chronic kidney disease (CKD), disorders that affect a large number of Americans today...
  8. REGULATION OF ENTERIC HYPEROXALURI BY OXALOBACTER
    AMMON PECK; Fiscal Year: 2001
    ..per gram feces and the frequency of recurrent urolithiasis, inflammatory bowel disease and hyperoxaluria/nephrocalcinosis in cystic fibrosis...
  9. Proximal Tubule Transport Defect in Hyp Mice
    Michel Baum; Fiscal Year: 2007
    ..results in improvement of rickets but can result in hyperparathyroidism, hypercalcemia, hypercalciuria and nephrocalcinosis. We have found that the Hyp mouse, which has the same genetic defect as humans with X-linked hypophosphatemia,..
  10. Oxalate-Induced Renal Scarring and Crystal Retention
    JOHN LIESKE; Fiscal Year: 2003
    ..to gastrointestinal malabsorption is not, and in both disease states oxalate-induced nephrolithiasis, nephrocalcinosis, and renal scarring can cause renal failure and death...
  11. X-LINKED NEPHROLITHIASIS--MOLECULAR AND CLINICAL STUDIES
    STEVEN SCHEINMAN; Fiscal Year: 1999
    ..has recently described a disease characterized by nephrolithiasis, renal proximal tubular dysfunction, nephrocalcinosis, and ultimately renal failure, affecting only males and inherited in an X-linked recessive pattern...
  12. GPHRP KNOCKOUT MOUSE AS A MODEL OF HYPEROXALURIA
    Scott Cramer; Fiscal Year: 2003
    ..Overproduction of oxalate can lead to calcium oxalate stone disease, nephrocalcinosis, end-stage renal failure, and systemic oxalosis...
  13. GROWTH, ACIDOSIS & RENAL DISORDER IN TYPE 1 RTA
    ELISABETH MC SHERRY; Fiscal Year: 1980
    ..In each of 7 patients in whom adequate alkali therapy was started before age 3 years, nephrocalcinosis was not radiographically demonstrated at ages 7-17 years...
  14. METABOLISM OF DIETARY ALUMINUM
    JANET GREGER; Fiscal Year: 1992
    ..In the assessment of effects of dietary Ca on A1 retention, we will evaluate the effect of confounding factors such as poor growth and reduced food intake when calcium intake is very low and nephrocalcinosis when calcium intake is high.
  15. Prevention of Renal Damage in Primary Hyperoxaluria
    Dawn Milliner; Fiscal Year: 2008
    ..While most patients experience nephrocalcinosis and/or repeated episodes of urolithiasis in childhood, some develop renal failure as early as infancy while ..
  16. Continuous Treatment with Oxalate Changes Renal Physiology and Morphology (DK0750
    Susan Ruth Marengo; Fiscal Year: 2008
    unreadable] DESCRIPTION (provided by applicant): The role that oxalate plays in calcium oxalate (CaOx) nephrocalcinosis and oxalate driven nephrolithiasis is not well understood...
  17. Tools for mapping transcriptional networks
    Uri Alon; Fiscal Year: 2006
    ..We expect that the analysis tools and concepts developed in E. coli will be very useful in mapping complex regulatory circuits in other cell types. [unreadable] [unreadable]..
  18. 7th International Workshop on Primary Hyperoxaluria
    Dawn Milliner; Fiscal Year: 2005
    ..Recent crystallization of the AGT protein, and advances in the molecular genetics, diagnostic testing, and pharmacogenomics of PH make 2004 an exciting year for the 7th Workshop. ..
  19. Oxalate & Crystal Renal Phenotypes: A Microarray Study
    Susan Ruth Marengo; Fiscal Year: 2003
    ..The long term objective of this work is to establish the mechanism of oxalate induced damage in the kidney. ..
  20. TEM with Digital and Cryopreparation Systems
    Andrew Evan; Fiscal Year: 2003
    ..Dr. Richard Gregory will employ immunohistochemistry to examine the role of a Streptococcus mutans 65 kDa fimbrial protein binding as a mechanism for the induction of dental carries. ..
  21. IKSI: 2nd International Urolithiasis Research Symposium
    Andrew Evan; Fiscal Year: 2008
    ..This assumption was supported by the great success of the 1st International Urolithiasis Research symposium and the high level of interest in the 2nd symposium date. [unreadable] [unreadable] [unreadable]..
  22. Risk for Renal Injury Caused by Shock Wave Lithotripsy
    Andrew Evan; Fiscal Year: 2008
    ..All of these proposed studies aim at understanding the adverse effects of shock waves and advancing the safety of all stone patients at a time when reports of adverse effects in SWL are on the rise. ..
  23. IKSI: 1st Annual International Urolithiasis Research Symposium
    Andrew Evan; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  24. CaP, crystal responsible for idiopathic nephrolithasis
    Saeed Khan; Fiscal Year: 2008
    ..Type density and size must conform to limits and specifications provided in the PHS 398Instructions. RESEARCH GRANT TABLE OF CONTENTS Page Numbers Face Page 1 Description, ..
  25. TISSUE-CRYSTAL INTERACTION CA OXALATE NEPHROLITHIASIS
    Saeed Khan; Fiscal Year: 2003
    ..We can follow various events of nephrolithiasis in the animal model and cats explore the outcome of renal epithelial cell exposure to oxalate and calcium oxalate crystals in the cell cultures. ..
  26. Role of Nanobacteria in Human Calcifying Disease
    JOHN LIESKE; Fiscal Year: 2004
    ..abstract_text> ..
  27. Novel Risk Factors for Kidney Stone Formation
    Eric Taylor; Fiscal Year: 2008
    ..At the completion of this career development award, Dr. Taylor will have a unique combination of skills and experience that will enable him to succeed as an independent clinical investigator. ..
  28. INTER ALPHA TRYPSIN INHIBITOR IN CAOX UROLITHIASIS
    Susan Ruth Marengo; Fiscal Year: 2002
    ..e. the liver the primary source of serum IaTI- trimer), or locally (kidney) as judged by Northern blot analysis of RNA message for each of the IaTI-subunits and by Western blot/ELISA of the protein. ..
  29. GENETIC STUDIES OF COMMON CONGENITAL HEART DEFECTS
    John Belmont; Fiscal Year: 2004
    ..The proposed studies will provide a base on which to advance genetic analyses of a substantial group of congenital heart defects with the aim of reducing their occurrence and providing new treatment opportunities. ..