Genomes and Genes
Summary: Constellation of clinical and laboratory manifestations produced by generalized proximal tubular insufficiency in the presence of normal, or nearly normal, glomerular filtration.
Publications196 found, 100 shown here
- Urinary proteome pattern in children with renal Fanconi syndromeJens Drube
Department of Paediatric Nephrology, Children s Hospital, Hannover Medical School, Hannover, Germany
Nephrol Dial Transplant 24:2161-9. 2009The renal Fanconi syndrome (FS) is characterized by renal glucosuria, loss of electrolytes, bicarbonate and lactate, generalized hyperaminoaciduria and low-molecular-weight proteinuria...
- Fanconi syndrome due to deferasiroxCédric Rafat
Universite Paris Descartes, Hopital Necker, APHP, Paris, France
Am J Kidney Dis 54:931-4. 2009..We report a case of Fanconi syndrome associated with acute renal insufficiency in a patient receiving deferasirox...
- Acute renal failure and Fanconi syndrome due to deferasiroxSteven Grangé
Nephrology Department, Rouen University Hospital, 1 Avenue de Germont, 76031 Rouen Cedex, Rouen, France
Nephrol Dial Transplant 25:2376-8. 2010..However, recent data from large studies confirmed the renal toxicity of deferasirox. We report a case of Fanconi syndrome associated with acute renal failure in a patient receiving deferasirox...
- A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant miceM S Sun
Department of Pediatrics, Kumamoto University School of Medicine, Japan
J Am Soc Nephrol 11:291-300. 2000..Simultaneously, renal tubular function was impaired and Fanconi syndrome occurred...
- Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3U Lichter-Konecki
Center for Medical Genetics, Marshfield Medical Research Foundation, Marshfield, WI, USA
Am J Hum Genet 68:264-8. 2001Autosomal dominant renal Fanconi syndrome is a genetic model for the study of proximal renal tubular transport pathology. We were able to map the locus for this disease to human chromosome 15q15...
- Adult-onset acute tubulointerstitial nephritis and uveitis with Fanconi syndrome. Case report and review of the literatureK Koike
Department of Medicine, Division of Nephrology, Kurume University School of Medicine, Kurume, Japan
Clin Nephrol 67:255-9. 2007We report a case of tubulointerstitial nephritis and uveitis (TINU syndrome) with full type Fanconi syndrome. A 32-year-old woman presented with fatigue, anorexia and weight loss...
- Acquired Fanconi's syndrome associated with tenofovir therapyGeorge Mathew
Division of Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
J Gen Intern Med 21:C3-5. 2006..Frequent urine, renal, and electrolyte parameters should be measured at regular intervals following initiation of tenofovir therapy...
- Pamidronate-induced tubulointerstitial nephritis with Fanconi syndrome in a patient with primary hyperparathyroidismMartin Buysschaert
Department of Endocrinology and Nutrition, Cliniques Universitaires St Luc, Universite Catholique de Louvain, Bruxelles, Belgium
Nephrol Dial Transplant 18:826-9. 2003
- Acquired Fanconi syndrome after treatment with capecitabine, irinotecan, and bevacizumabAisha Shaikh
Wichita Nephrology Group, Wichita, KS, USA
Ann Pharmacother 43:1370-3. 2009To describe a case of acquired Fanconi syndrome after treatment with capecitabine, irinotecan, and bevacizumab.
- Fanconi syndrome and nephrogenic diabetes insipidus associated with didanosine therapy in HIV infection: a case report and literature reviewGéraldine D'Ythurbide
Department of Nephrology, Kremlin Bicetre Hospital, AP HP, Le Kremlin Bicetre, France
Nephrol Dial Transplant 22:3656-9. 2007
- Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussionW S Long
Yale University School of Medicine, New Haven, Connecticut
Yale J Biol Med 63:15-28. 1990b>Fanconi syndrome is a complex of renal tubular dysfunctions defined by glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis...
- Toward understanding renal Fanconi syndrome: step by step advances through experimental modelsChristophe Sirac
Laboratoire d Immunologie, CNRS UMR6101, Universite de Limoges, Limoges, France
Contrib Nephrol 169:247-61. 2011Renal Fanconi syndrome (FS) is a generalized dysfunction of proximal tubular epithelial cells leading to the urinary leak of essential metabolites like phosphate, uric acid, glucose, amino acids and low molecular weight proteins...
- L-Histidinol attenuates Fanconi syndrome induced by ifosfamide in ratsO A Badary
Department of Pharmacology, College of Pharmacy, Al Azhar University, Cairo, Egypt
Exp Nephrol 7:323-7. 1999..The aim of this study was to assess whether oral supplementation of LHL could attenuate Fanconi syndrome (FS) induced by IFO...
- Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosisMarie Lino
Service d Hépatologie AP HP, Hopital Necker, Paris, France
Am J Kidney Dis 46:e41-6. 2005..Tubulointerstitial nephritis and Fanconi syndrome have been reported more rarely...
- Fanconi syndrome caused by valproic acidAyumi Endo
Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo 173 8610, Japan
Pediatr Neurol 42:287-90. 2010..girl, had been treated with valproic acid from the ages of 5 and 6 months, respectively, and developed Fanconi syndrome. Both patients were bedridden and fed by means of a nasogastric or gastrostomy tube...
- Inhibition of Na(+)-dependent transporters in cystine-loaded human renal cells: electrophysiological studies on the Fanconi syndrome of cystinosisIbrahim Cetinkaya
Department of Pediatrics, University Children s Hospital Muenster, Muenster, Germany
J Am Soc Nephrol 13:2085-93. 2002Cystinosis is the most common cause of the renal Fanconi syndrome in children, leading to severe electrolyte disturbances and growth failure. A defective lysosomal transporter, cystinosin, results in intralysosomal accumulation of cystine...
- Glomerular protein sieving and implications for renal failure in Fanconi syndromeA G Norden
Department of Clinical Biochemistry, Box 232, Addenbrooke s Hospital, Hill s Road, Cambridge CB2 2QR, England, UK
Kidney Int 60:1885-92. 2001..We have studied the proteinuria of Fanconi syndrome, a "knock-out" of renal tubular protein reabsorption, to estimate GSCs and detect potential contributors to ..
- Fanconi syndrome caused by antiepileptic therapy with valproic AcidMartin Knorr
Department of General Pediatrics, Heinrich Heine University Dusseldorf, Dusseldorf, Germany
Epilepsia 45:868-71. 2004..Regular screening for renal side effects is uncommon. Fanconi syndrome, a generalized dysfunction of renal proximal tubular cells, occurs with some inborn errors of metabolism...
- MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndromeMagdalena R Golachowska
Department of Cell Biology, Section of Membrane Cell Biology, University Medical Center Groningen, University of Groningen, The Netherlands
J Pediatr Gastroenterol Nutr 54:491-8. 2012..We report 2 patients with MVID that developed renal Fanconi syndrome while receiving total parenteral nutrition...
- Acute renal failure and Fanconi syndrome in an AIDS patient on tenofovir treatment--case report and review of literatureAmyn Malik
Department of Internal Medicine, University of Minnesota, 516 Delaware Street, MMC 194, PWB 14 110, Minneapolis, MN 55108, USA
J Infect 51:E61-5. 2005..We report another patient who developed Fanconi syndrome while on tenofovir. Her condition improved on discontinuation of the drug...
- Drug-induced Fanconi's syndromeHassane Izzedine
Department of Nephrology, Pitie Salpetriere Hospital, Paris, France
Am J Kidney Dis 41:292-309. 2003..Acquired renal tubular defects resulting in FS also have been described in association with many exogenous agents, whether administered or accidentally ingested. This review concentrates on drug-induced FS...
- Tenofovir-associated Fanconi syndrome: review of the FDA adverse event reporting systemSamir K Gupta
Division of Infectious Diseases, Indiana University School of Medicine, Indianapolis, Indiana, USA
AIDS Patient Care STDS 22:99-103. 2008..A relatively uncommon adverse effect of this drug is Fanconi syndrome. What is known about this toxicity, especially in regards to concomitant medication use and outcomes, is ..
- Fanconi syndrome and renal failure induced by tenofovir: a first case reportDavid Verhelst
Department of Nephrology, Hopital Tenon AP HP, Paris, France
Am J Kidney Dis 40:1331-3. 2002..The authors report the case of a patient who had Fanconi syndrome, nephrogenic diabetes insipidus, and acute renal failure during treatment with tenofovir, a nucleotide ..
- Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndromeAnthony G W Norden
Department of Clinical Biochemistry, Addenbrooke s Hospital, Cambridge, United Kingdom
J Am Soc Nephrol 13:125-33. 2002..are present in the urine of patients with Dent's disease, Lowe's syndrome, or autosomal dominant idiopathic Fanconi syndrome was explored. They are all forms of the renal Fanconi syndrome and are associated with tubular proteinuria...
- Nephropathic cystinosis: late complications of a multisystemic diseaseGalina Nesterova
Section on Human Biochemical Genetics, Human Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1851, USA
Pediatr Nephrol 23:863-78. 2008..prominent feature of cystinosis and, along with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, has accounted for the bulk of deaths from this disorder...
- Resveratrol improves ifosfamide-induced Fanconi syndrome in ratsOzer Sehirli
Marmara University, School of Pharmacy, Department of Pharmacology, Tibbiye Cad 34668 Istanbul, Turkey
Toxicol Appl Pharmacol 222:33-41. 2007..The results demonstrated that IFO induced a Fanconi syndrome characterized by increased urinary sodium, phosphate, glucose and protein, along with increased serum ..
- L-Carnitine attenuates ifosfamide-induced carnitine deficiency and decreased intramitochondrial CoA-SH in rat kidney tissuesMohamed M Sayed-Ahmed
Department of Pharmacology, College of Pharmacy, King Saud University, Riyadh, Kingdom of Saudi Arabia
J Nephrol 24:490-8. 2011The effects of L-carnitine on ifosfamide (IFO)-induced Fanconi syndrome have not been studied to date...
- Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndromeAnnalisa Vilasi
Second University of Naples, Italy
Am J Physiol Renal Physiol 293:F456-67. 2007The renal Fanconi syndrome is a defect of proximal tubular function causing aminoaciduria and low-molecular-weight proteinuria...
- Fanconi syndrome associated with didanosine therapyHassane Izzedine
AIDS 19:844-5. 2005
- Fanconi syndrome and lactic acidosis associated with stavudine and lamivudine therapyMark Nelson
Imperial College, Department of HIV Medicine, Chelsea and Westminster Hospital, London, UK
AIDS 22:1374-6. 2008We report a case of the nucleoside reverse transcriptase inhibitors, stavudine and lamivudine inducing Fanconi syndrome in a patient...
- Oral carnitine therapy in children with cystinosis and renal Fanconi syndromeW A Gahl
Section of Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
J Clin Invest 81:549-60. 1988..with either cystinosis or Lowe's syndrome had a reduced content of plasma and muscle carnitine due to renal Fanconi syndrome. After treatment with oral L-carnitine, 100 mg/kg per d divided every 6 h, plasma carnitine concentrations ..
- Efforts to establish an animal model of Fanconi syndrome after ifosfamide administration to ratsD Appenroth
Institute of Pharmacology and Toxicology, Friedrich Schiller University of Jena, Jena, Germany
J Appl Toxicol 27:327-36. 2007About 10% of children develop Fanconi syndrome (FS) a few months after ifosfamide (IFO) treatment...
- Pearson's syndrome presenting with Fanconi syndromeR D Gilbert
Department of Paediatrics and Child Health, Red Cross War Memorial Children s Hospital, Rondebosch, South Africa
Ultrastruct Pathol 20:473-5. 1996..The dominant clinical feature was a generalized disorder of proximal tubule function with severe renal magnesium wasting. Renal and muscle biopsies were performed and showed bizarre giant mitochondria...
- A patient with cystinosis presenting transient features of Bartter syndromeBilal Yildiz
Department of Pediatrics, Osmangazi University Faculty of Medicine, Eskisehir, Turkey
Turk J Pediatr 48:260-2. 2006..Renal Fanconi syndrome with metabolic acidosis is prominent in cystinosis; however, in rare instances, if sodium-dependent trans-..
- Fanconi syndrome in a patient with β-thalassemia major after using deferasirox for 27 monthsHsin Yi Wei
Department of Pediatrics, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan
Transfusion 51:949-54. 2011..Its advantages are that it is convenient and better tolerated and adhered to due to "once-daily" oral dosage. However, its use in the field is limited and it is yet to be subjected to postmarketing surveillance...
- Tenofovir-related Fanconi syndrome with nephrogenic diabetes insipidus in a patient with acquired immunodeficiency syndrome: the role of lopinavir-ritonavir-didanosineFlorence Rollot
Internal Medicine, Cochin and Saint Vincent de Paul Hospital, Paris, France
Clin Infect Dis 37:e174-6. 2003..Until there is a better understanding of these interactions, close monitoring is recommended for patients receiving tenofovir, PIs, and didanosine...
- Bone disease and pathologic fractures in a patient with tenofovir-induced Fanconi syndromeNancy M Brim
Brigham and Women s Hospital, Boston, Massachusetts, USA
AIDS Read 17:322-8, C3. 2007We report the case of an HIV-positive patient with preexisting bone disease who developed tenofovir-induced Fanconi syndrome and subsequently sustained pathologic fractures...
- Hypokalemia due to Fanconi syndrome in a patient with obstructive jaundiceGeorge Liamis
Department of Internal Medicine, University of Ioannina, Greece
Nephron 92:711-2. 2002....
- Fanconi's syndrome in HIV+ adults: report of three cases and literature reviewKaren E Earle
Endocrinology Division, Department of Medicine, University of California at San Francisco, San Francisco, California, USA
J Bone Miner Res 19:714-21. 2004..This was temporally related to their HIV treatment. Physicians caring for patients with HIV should recognize the association of this rare syndrome with antiretroviral medications and monitor their patients carefully...
- Detection and analysis of urinary peptides by on-line liquid chromatography and mass spectrometry: application to patients with renal Fanconi syndromePedro R Cutillas
BioAnalytical Chemistry Laboratory, Ludwig Institute for Cancer Research, First Floor, Cruciform Building, Gower Street, London WC1E 6BT, UK
Clin Sci (Lond) 104:483-90. 2003..This approach is a potentially powerful tool to discover new markers and/or causative factors in renal disease; in addition, its sensitivity may also make it applicable to the direct ultramicroanalysis of renal tubule fluid...
- Editorial comment: Fanconi syndrome and tenofovir--understanding proximal tubular functionDerek M Fine
AIDS Read 17:326-7. 2007
- Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapyWilliam A Gahl
National Human Genome Research Institute and Intramural Office of Rare Diseases, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
Ann Intern Med 147:242-50. 2007..The full burden of nephropathic cystinosis in adulthood and the effects of long-term oral cysteamine therapy on its nonrenal complications have not been elucidated...
- Development of Fanconi syndrome during infancy in a patient with cystinosisElena Levtchenko
Acta Paediatr 95:379-80. 2006
- Abacavir-induced reversible Fanconi syndrome with nephrogenic diabetes insipidus in a patient with acquired immunodeficiency syndromeM Ahmad
Department of Nephrology, University Health Network, University of Toronto, Ontario, Canada
J Postgrad Med 52:296-7. 2006There are several reports of Fanconi syndrome (FS) with or without nephrogenic diabetes insipidus (NDI) in patients with human immunodeficiency virus (HIV) infection, treated with various antiretroviral medications like cidofovir, ..
- The development of hypophosphataemic osteomalacia with myopathy in two patients with HIV infection receiving tenofovir therapyM J Parsonage
Department of Infectious Diseases and Tropical Medicine, North Manchester General Hospital, Crumpsall, Manchester, UK
HIV Med 6:341-6. 2005..developed in patients on tenofovir-containing highly active antiretroviral therapy (HAART) in the context of Fanconi syndrome with hypophosphataemia. Bone pain was the presenting feature and myopathy followed in one case...
- The urinary proteome in Fanconi syndrome implies specificity in the reabsorption of proteins by renal proximal tubule cellsPedro R Cutillas
Ludwig Institute for Cancer Research, London, UK
Am J Physiol Renal Physiol 287:F353-64. 2004..completely reabsorbed in the first segment of the proximal tubule by receptor-mediated endocytosis; in renal Fanconi syndrome (FS), there is failure to reabsorb many of these polypeptides...
- Proximal tubular dysfunction associated with tenofovir and didanosine causing Fanconi syndrome and diabetes insipidus: a report of 3 casesJoan M Irizarry-Alvarado
Division of General Internal Medicine, Mayo Clinic, Jacksonville, Florida, USA
AIDS Read 19:114-21. 2009We report 3 cases of patients with HIV/AIDS in whom Fanconi syndrome and nephrogenic diabetes insipidus developed secondary to use of an antiretroviral regimen containing tenofovir disoproxil fumarate and didanosine...
- Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22M A Pook
MRC Clinical Sciences Centre, Royal Postgraduate Medical School, London, UK
Hum Mol Genet 2:2129-34. 1993..22, and a further characterisation of this gene will help to elucidate the factors controlling proximal renal tubular function and the development of kidney stones...
- Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndromeGuido F Laube
Nephrourology Unit, Institute of Child Health and University College London Medical School, 30 Guilford Street, London, WC1 N 1EH, UK
Pediatr Nephrol 20:136-40. 2005The renal Fanconi syndrome (FS) is characterised by generalised proximal tubular dysfunction...
- Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndromeM Pontoglio
Unite des Virus Oncogenes, Departement des Biotechnologies, InstitutPasteur, Paris, France
Cell 84:575-85. 1996..Mutant mice also suffer from severe Fanconi syndrome caused by renal proximal tubular dysfunction...
- Kearns-Sayre syndrome associated with de Toni-DebrÃ©-Fanconi syndrome due to cytochrome-c-oxidase (COX) deficiencyA Berio
Pediatric Chair, Department of Pediatrics, University of Genoa, Genoa, Italy
Panminerva Med 43:211-4. 2001..renal tubule: first hyperphosphaturia and hyperaminoaciduria and, later, also glucosuria (de Toni-DebrÃ©-Fanconi syndrome), a syndrome to date rarely diagnosed in association with complete Kearns-Sayre syndrome...
- Fanconi syndrome and acute renal failure in a patient treated with tenofovir: a call for cautionGabriel Gaspar
AIDS 18:351-2. 2004
- Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA)E M Pitchon
Jules Gonin Eye Hospital, Lausanne, Switzerland
Klin Monbl Augenheilkd 224:340-3. 2007..We report a patient with a highly unusual presentation of a mitochondrial disorder...
- Aminoglycoside-associated Fanconi syndromeRazvan A Ghiculescu
Department of Clinical Pharmacology, Royal Brisbane and Women s Hospital, Herston, QLD 4029, Brisbane, Australia
Am J Kidney Dis 48:e89-93. 2006The objective is to describe a case of probable aminoglycoside-induced Fanconi syndrome and make clinicians aware of the existence of this underrecognized and underdiagnosed complication in patients treated with a prolonged course of high-..
- Fanconi's syndrome, interstitial fibrosis and renal failure by aristolochic acid in Chinese herbsYin Tai Hong
Division of Immunology and Nephrology, Department of Pediatrics, Taichung Veterans General Hospital, 160, Sec 3, Chung Kang Road, Taichung 407, Taiwan
Pediatr Nephrol 21:577-9. 2006..AAN was diagnosed after other etiologies had been excluded. The case demonstrates the hazards of Chinese herbs with regard to children's health in Taiwan and suggests that more attention should be paid to this issue...
- Tenofovir-associated nephrotoxicity: Fanconi syndrome and renal failureBrian S Rifkin
Am J Med 117:282-4. 2004
- [Nephrotoxicity of ifosfamide with special reference to Fanconi Syndrome]Elzbieta Rogowska
Klinika Chirurgii Onkologicznej Dzieci, Instytut Matki i Dziecka, Kasprzaka 17a, 01 211 Warszawa, Poland
Med Wieku Rozwoj 8:289-95. 2004The article is a case presentation of Fanconi syndrome in a patient treated with high doses of ifosfamide. ifosfamide nephrotoxicity relates to glomerular and tubular disfunction...
- Secondary renal Fanconi syndrome caused by valproate therapyToru Watanabe
Department of Pediatrics, Niigata City General Hospital, Japan
Pediatr Nephrol 20:814-7. 2005Although renal Fanconi syndrome resulting from valproate (VPA) has occasionally been reported, the detailed clinical characteristics of this disease remain unclear...
- Osteomalacia revealing celiac disease and primary biliary cirrhosis-related Fanconi syndrome in a patient with systemic sclerosisB Terrier
Department of Internal Medicine and French Reference Center for necrotizing vasculitides and systemic sclerosis, Cochin Hospital, Assistance Publique Hopitaux de Paris AP HP, France
Clin Exp Rheumatol 26:467-70. 2008..exceptional conditions in the setting of SSc: celiac disease (CD) and primary biliary cirrhosis (PBC)-related Fanconi syndrome. Oral prednisone with angiotensin-converting enzyme inhibitors, was initiated because of active lesions of ..
- Fanconi syndrome and CKD in a patient with paroxysmal nocturnal hemoglobinuria and hemosiderosisPo Jen Hsiao
Division of Nephrology, Department of Medicine, Tri Service General Hospital, National Defense Medical Center, Neihu 114, Taipei, Taiwan
Am J Kidney Dis 55:e1-5. 2010b>Fanconi syndrome and chronic kidney disease associated with paroxysmal nocturnal hemoglobinuria is rarely reported...
- Fanconi syndrome caused by sodium valproate: report of three severely disabled childrenHideto Yoshikawa
Department of Pediatrics, Niigata City General Hospital, Niigata, Japan
Eur J Paediatr Neurol 6:165-7. 2002..treated with sodium valproate from the age of 2 months, 3 months and 7 years, respectively, and who developed Fanconi syndrome. All three patients were bed-ridden and fed by means of a nasogastric or gastrostomy tube...
- Analysis of molecular forms of urine Retinol-Binding Protein in Fanconi Syndrome and design of an accurate immunoassayKeith A Burling
Core Biochemical Assay Laboratory, NIHR Cambridge Biomedical Research Centre, Addenbrooke s Hospital, Cambridge, United Kingdom
Clin Chim Acta 413:483-9. 2012..Protein in urine (uRBP), a biomarker for the proximal renal tubular disease of congenital and acquired Fanconi Syndrome (FS) occurs in multiple forms...
- Reversible Fanconi syndrome in a pediatric patient on deferasiroxMichelle N Rheault
Department of Pediatrics, University of Minnesota Amplatz Children s Hospital, Minneapolis, Minnesota 55455, USA
Pediatr Blood Cancer 56:674-6. 2011..We report one pediatric patient with reversible Fanconi syndrome associated with long-term deferasirox therapy and one patient with mild proximal tubular dysfunction...
- Hypokalemic paralysis as primary presentation of Fanconi syndrome associated with Sjögren syndromeChih Chiang Wang
Division of Nephrology, Department of Internal Medicine, Kaohsiung Armed Forces, General Hospital, Kaohsiung, Taiwan, Republic of China
J Clin Rheumatol 16:178-80. 2010Hypokalemic paralysis is a rare presentation of Fanconi syndrome (FS) caused by Sjögren Syndrome (SS). We describe a 39-year-old man who manifested flaccid paralysis of 4 limbs. Laboratory investigations showed profound hypokalemia (1...
- Osteomalacia due to chemotherapy-induced Fanconi syndrome in an adult patientLionel Duck
Medical Oncology Unit, Centre du Cancer, Cliniques Universitaires St Luc, Av Hippocrate 10, 1200 Brussels, Belgium
Gynecol Oncol 98:329-31. 2005Chemotherapy-induced Fanconi syndrome is a dangerous condition that could lead to severe electrolyte disturbances and rarely to osteomalacia.
- Fanconi syndrome associated with use of tenofovir in HIV-infected patients: a case report and review of the literatureDavid Quimby
Department of Medicine, University of Illinois at Chicago College of Medicine, USA
AIDS Read 15:357-64. 2005We report a case of Fanconi syndrome associated with the use of tenofovir disoproxil fumarate, a nucleotide reverse transcriptase inhibitor used in the treatment of HIV infection...
- Tenofovir-related nephrotoxicity in human immunodeficiency virus-infected patients: three cases of renal failure, Fanconi syndrome, and nephrogenic diabetes insipidusAlexandre Karras
Service de Nephrologie, Hopital Saint Louis, 75475 Paris Cedex 10, France
Clin Infect Dis 36:1070-3. 2003..Patients receiving tenofovir must be monitored closely for early signs of tubulopathy (glycosuria, acidosis, mild increase in the plasma creatinine level, and proteinuria)...
- Acquired Fanconi syndrome is an indolent disorder in the absence of overt multiple myelomaCynthia X Ma
Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
Blood 104:40-2. 2004Adult-acquired Fanconi syndrome (FS) is a rare complication of monoclonal gammopathy. We retrospectively reviewed 32 patients diagnosed with adult-acquired FS between April 1968 and June 2002 at Mayo Clinic (Rochester, MN)...
- Selected rare, noninfectious syndromes associated with HIV infectionMolly E Eaton
Emory University School of Medicine, Atlanta, GA, USA
Top HIV Med 13:75-8. 2005..and sometimes treatable noninfectious syndromes associated with HIV disease include tenofovir-associated Fanconi syndrome, a proximal renal tubular disorder; pulmonary hypertension that appears to be due to HIV-driven inflammation ..
- [Acute renal failure and proximal renal tubular dysfuntion in a patient with acquired immunodeficiency syndrome treated with tenofovir]F J de la Prada
Servicio de Nefrologia, Hospital Universitario Son Dureta, Andrea Doria, Palma de Mallorca
Nefrologia 26:626-30. 2006..renal transport of organic anions leading to proximal tubular intracellular accumulation of tenofovir, yield Fanconi syndrome-type tubulopathy...
- Serum hypophosphatemia in tenofovir disoproxil fumarate recipients is multifactorial in origin, questioning the utility of its monitoring in clinical practiceSara Louise Day
Brighton and Sussex University Hospitals, National Health Service Trust, Brighton, Sussex, United Kingdom
J Acquir Immune Defic Syndr 38:301-4. 2005..The etiology of HP seems to be multifactorial and unrelated to TDF or renal dysfunction. This questions the utility of routine phosphate testing, in isolation, in TDF recipients...
- [Acute renal failure, Fanconi syndrome and insipidus diabetes in a HIV-infected patient treated with Tenofovir]H Harmouche
Rev Med Interne 26:522-3. 2005
- Editorial comment: tenofovir nephrotoxicity--vigilance requiredDerek M Fine
AIDS Read 15:362-3. 2005
- Tenofovir-induced renal tubular dysfunction presenting with hypocalcaemiaJohn Williams
Department of Infection and Travel Medicine, The James Cook University Hospital, Marton Rd, Middlesbrough TS4 3BW, UK
J Infect 52:e107-8. 2006
- Causes and consequences of hypokalemia in patients on tenofovir disoproxil fumarateDavid H Shepp
Gilead Sciences, Foster City, California, USA
AIDS 21:1479-81. 2007..In none of the six fatal cases did hypokalemia appear to contribute to death...
- Association between ABCC2 gene haplotypes and tenofovir-induced proximal tubulopathyHassane Izzedine
Department of Nephrology, La Pitie Salpetriere Hospital, Assistance Publique Hopitaux de Paris, Universite Pierre et Marie Curie Paris IV, 75013 Paris, France
J Infect Dis 194:1481-91. 2006..Tenofovir disoproxil fumarate (TDF) may induce renal proximal tubulopathy (rPT). There are no data on pharmacogenomic predictors of rPT in the genes encoding the multidrug-resistance protein (MRP) 2 and MRP4 transporters...
- Toward a pharmacogenetic understanding of nucleotide and nucleoside analogue toxicityTodd Hulgan
J Infect Dis 194:1471-4. 2006
- Nephrotoxicity in a child with perinatal HIV on tenofovir, didanosine and lopinavir/ritonavirSabiha Hussain
Pediatric Infectious Diseases and Immunology, University of Florida, Jacksonville, FL, USA
Pediatr Nephrol 21:1034-6. 2006Tenofovir-related tubule damage characterized by Fanconi syndrome, renal insufficiency and nephrogenic diabetes insipidus has been reported in the adult HIV-infected population...
- [Proximal tubular impairment (Fanconi syndrome)]G Deschenes
Assistance Publique Hopitaux de Paris, Paris, France
Arch Pediatr 13:524-5. 2006
- [Role of bone gammagraphy in the diagnosis of secondary osteomalacia in a patient treated with tenofovir]M V Torres Isidro
Servicio de Medicina Nuclear, Hospital Carlos III, Madrid
Rev Esp Med Nucl 25:103-6. 2006..In further analysis, a secondary hyperparathyroidism and osteomalacia were diagnosed in the context of Fanconi syndrome, an infrequent complication described in patients under treatment with tenofovir.
- Adult onset Fanconi syndrome: extensive tubulo-interstitial lesions and glomerulopathy in the early stage of Chinese herbs nephropathyItsuro Kazama
Division of Molecular Medicine, Tohoku University Graduate School of Medicine, 2 1 Seiryo cho, Aoba ku, Sendai 980 8575, Japan
Clin Exp Nephrol 8:283-7. 2004..generalized aminoaciduria and glycosuria, features which were consistent with the clinical manifestations of Fanconi syndrome. Renal biopsy was performed when her plasma creatinine was 0...
- The Fanconi syndrome of cystinosis: insights into the pathophysiologyAbdullah Sakarcan
Department of Pediatrics, University of South Carolina School of Medicine, South Carolina, USA
Turk J Pediatr 44:279-82. 2002Cystinosis is a lysosomal storage disease, and is one of the most common causes of the Fanconi syndrome. In vitro studies of the cystine-loaded tubule provided insights into the pathophysiology of the proximal tubular defect...
- [From gene to disease: cystinosis]E N Levtchenko
afd Kindergeneeskunde, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen
Ned Tijdschr Geneeskd 148:476-8. 2004..The most severe infantile form of cystinosis starts with Fanconi syndrome at the age of 3-6 months. Untreated patients develop renal failure before the age of 10...
- Estimating renal function in patients on tenofovir disoproxil fumarate: suggestions for safer useJ Winston
HIV Med 7:484-5. 2006
- Biological effects of short-term or prolonged administration of 9-[2-(phosphonomethoxy)propyl]adenine (tenofovir) to newborn and infant rhesus macaquesKoen K A Van Rompay
California National Primate Research Center, University of California, Davis, California 95616, USA
Antimicrob Agents Chemother 48:1469-87. 2004....
- Fanconi-like syndrome and rhabdomyolysis in a person with HIV infection on highly active antiretroviral treatment including tenofovirSteven Callens
J Infect 47:262-3. 2003
- Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotypingAude Servais
Department of Nephrology, Necker Hospital, 149 rue de Sevres, 75015 Paris, France
Clin J Am Soc Nephrol 3:27-35. 2008....
- Renal lesions in HIV-1-positive patient treated with tenofovirCaroline Creput
AIDS 17:935-7. 2003
- Tenofovir-related nephrotoxicity: case report and review of the literatureChristopher W James
HIV Community Program, Christiana Care Health Services, Wilmington, Delaware 19899 1668, USA
Pharmacotherapy 24:415-8. 2004..However, our case report and literature review underscore the importance of monitoring renal function when treating patients with any nucleotide reverse transcriptase inhibitor...
- Perioperative care of the patient with nephropathic cystinosisTheresa L Ray
Department of Child Health, The Division of Pediatric Critical Care Pediatric Anesthesiology, The University of Missouri, Columbia, MO, USA
Paediatr Anaesth 14:878-85. 2004..Issues of primary concern during perioperative care include preservation of renal function and maintenance of fluid and electrolyte homeostasis...
- Acquired fanconi syndrome with osteomalacia secondary to monoclonal gammopathy of undetermined significanceToru Hashimoto
Division of Hypertension and Nephrology, National Kyushu Medical Center, Fukuoka, Japan
Intern Med 46:241-5. 2007..Examination revealed hypophosphatemic osteomalacia and acquired Fanconi syndrome. Further exploration revealed monoclonal gammopathy of undetermined significance (MGUS) excreting urinary ..
- Expanding the pathologic spectrum of immunoglobulin light chain proximal tubulopathyUmesh Kapur
Department of Pathology, Loyola University Medical Center, Maywood, Ill, USA
Arch Pathol Lab Med 131:1368-72. 2007..In plasma cell dyscrasias, involvement of the distal tubules is frequent and well characterized. In contrast, proximal tubules have only rarely been reported to show diagnostic pathology such as intracytoplasmic crystals...
- Tubular changes in early diabetic nephropathyM C Thomas
Danielle Alberti Memorial Centre for Diabetes Complications, Baker Medical Research Institute, Melbourne, Victoria, Australia
Adv Chronic Kidney Dis 12:177-86. 2005..From this "holonephric" point of view, an understanding of the changes in the diabetic tubule forms an important component to the understanding of kidney disease in diabetes...
- Paraquat-induced Fanconi syndromeHyo W Gil
Department of Internal Medicine and Institute of Pesticide Poisoning, Soonchunhyang University Cheonan Hospital, Cheonan, Republic of Korea
Nephrology (Carlton) 10:430-2. 2005..Although paraquat has been established as one cause of acute tubular necrosis, Fanconi syndrome presenting as severe hypophosphataemia after paraquat intoxication has not been reported...
- Fanconi's syndrome induced by a monoclonal Vkappa3 light chain in Waldenstrom's macroglobulinemiaFrank Bridoux
Department of Nephrology, University Hospital, Poitiers, France
Am J Kidney Dis 45:749-57. 2005..Mechanisms other than resistance of LCs to endosomal proteolysis probably are involved in the pathogenesis of FS-associated plasma cell dyscrasias...
- Metabolomic study of cisplatin-induced nephrotoxicityD Portilla
Department of Internal Medicine, Division of Nephrology, University of Arkansas for Medical Sciences and Central Arkansas Veterans Healthcare System, Little Rock, Arkansas 72205, USA
Kidney Int 69:2194-204. 2006..We propose that the injury-induced metabolic profile may be used as a biomarker of cisplatin-induced nephrotoxicity...
- A pivotal role of the human kidney in catabolism of HDL protein components apolipoprotein A-I and A-IV but not of A-IIJonas Heilskov Graversen
Department of Medical Biochemistry, University of Aarhus, 8000 Aarhus C, Denmark
Lipids 43:467-70. 2008Renal handling of major HDL components was studied by analyzing urine from patients with Fanconi syndrome, a rare renal proximal tubular reabsorption failure, including dysfunction of the kidney HDL receptor, cubilin...
- Prominent hypophosphatemia due to proximal tubulopathy mimicking Fanconi's syndrome in a patient with obstructive jaundiceG Kalambokis
Clin Nephrol 65:306-7. 2006
- [Chinese herbs-induced renal failure with Fanconi syndrome: a report of 6 cases]Yang Yu
Renal Division, Deptartment of Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China
Zhonghua Nei Ke Za Zhi 42:110-2. 2003To understand the clinical and pathological features of patients with Fanconi syndrome associated with renal function damage induced by Chinese herbs.
- Skeletal scintigraphy in acquired adult Fanconi syndromeVincent M Brandenburg
Medical Clinic II, Division of Nephrology, University Hospital, Medical School, Aachen, Germany
Clin Nucl Med 27:53-4. 2002
- Acquired hypophosphatemia osteomalacia associated with Fanconi's syndrome in Sjögren's syndromeYi Sun Yang
Division of Endocrinology and Metabolism, Department of Internal Medicine, Chung Shan Medical University Hospital, Chung Shan Medical University, 110 Sec 1, Chien Kuo N Road, Taichung, 402, Taiwan
Rheumatol Int 27:593-7. 2007..Conversely, in patients with Sjögren's syndrome, early investigation and treatment of renal tubular dysfunction may prevent future complications, such as osteomalacia...
- Lentiviral-transduced hematopoictic stem cell transplantation for cystinosisStephanie Cherqui; Fiscal Year: 2013..Affected individuals typically present with proximal tubulopathy (Fanconi syndrome) before one year of age and without specific treatment progress to end-stage renal failure by the end of the ..
- Secretory Vesicle Function During Spermatogenesis & Fertilization in C. elegansSTEVEN W L apos HERNAULT; Fiscal Year: 2010..In addition to its role during spermatogenesis, V-ATPase function is defective in diseases that include renal Fanconi syndrome and the bone diseases, infantile ostepetrosis and osteoporosis...
- Kidney-targeted gene delivery for cystinosisStephanie Cherqui; Fiscal Year: 2012..Affected individuals typically present with proximal tubulopathy (Fanconi syndrome) before one year of age and without specific treatment progress to end-stage renal failure by the end of the ..
- OCRL and the pathogenesis of Lowe Syndrome and Dent DiseasePietro De Camilli; Fiscal Year: 2013..is a severe X-linked disorder characterized by reabsorption defects in the kidney proximal tubule (renal Fanconi syndrome), mental retardation and congenital cataracts...
- MECHANISMS OF INHERITED MEMBRANE TRANSPORT DISORDERSStanton Segal; Fiscal Year: 1992..of amino acids and sugar with emphasis on cystinuria as the prototypic inherited transport abnormality, the Fanconi syndrome associated with several inherited metabolic diseases with its global disarray of solute transport systems and ..
- EXPERIMENTAL CYSTINE STORAGE MODEL OF FANCONI SYNDROMEJohn Foreman; Fiscal Year: 1990The Fanconi syndrome, a global renal tubule disorder, is an enigmatic problem which most commonly is associated with cystinosis in pediatrics...
- Cd2+, Metallothionein and Transcriptional Control of Na+ Glucose Co-Transporter 1DAVID PETERING; Fiscal Year: 2009Chronic exposure to Cd2+ in humans causes kidney failure that is characterized as a Fanconi syndrome, in which an array of Na+-dependent nutrient transport processes is inhibited...
- MOLECULAR REGULATION OF 1,25(OH)2D PRODUCTIONAnthony Portale; Fiscal Year: 2002..failure, X-linked hypophosphatemic rickets, autosomal recessive vitamin D dependent rickets Type 1, renal Fanconi syndrome, and with advanced age...
- ROLE OF PROTEIN KINASES IN TRANSPORT REGULATIONMary Taub; Fiscal Year: 2004..The possible involvement of an inhibitory phosphatase, in regulating the phosphorylation of the Na,K-ATPase will also be examined. ..
- Molecular Genetics of Cadmium ToxicityDaniel W Nebert; Fiscal Year: 2010....
- CYP1A1 GENE AND ENVIRONMENTAL TOXICITYDaniel Nebert; Fiscal Year: 2005..abstract_text> ..
- Topical virucides to prevent oral transmissionKoen van Rompay; Fiscal Year: 2004..If topical tenofovir administration were effective, then this simple strategy would be highly affordable for developing countries. ..
- Brain Structure and Cognition in CystinosisDoris Trauner; Fiscal Year: 2007..The study results may also provide a basis for developing early interventions for children "at risk" for cognitive deficits because of the presence of a genetic disorder. ..
- Language Development Following Early Focal Brain InjuryDoris Trauner; Fiscal Year: 2008..Knowledge gained in this study may form the basis for more effective interventions to help improve neurodevelopmental outcome of children with brain damage in the future. [unreadable] [unreadable]..
- Contemporary Diagnosis and Treatment of Vitamin D-Related DisordersMarc Drezner; Fiscal Year: 2006..unreadable] [unreadable]..
- Modulation of Electrogenic Sodium Bicarbonate TransportIra Kurtz; Fiscal Year: 2007..Successful completion of this project will enhance our understanding of the mechanisms responsible for regulating H+/base transporters. ..
- GENOTOXICITY IN CYP1A2 DEFICIENT TRANSGENIC MICEDaniel Nebert; Fiscal Year: 2002..S. population. ..
- PAHs: Balance of Detoxication vs Metabolic ActivationDaniel Nebert; Fiscal Year: 2009..dissemination of ingested BaP and will be informative in clinical studies in which we would determine which haplotypes of these three human genes might be associated with resistance vs. sensitivity to PAH-induced toxicity and cancer. ..
- Neuro-cognitive Outcome After Early Focal Brain DamageDoris Trauner; Fiscal Year: 2007..The findings may further serve as a basis from which to design more effective interventions for children at risk for cognitive dysfunction because of early brain damage. ..
- Membrane Transport of NH3 and NH4+NAZIH NAKHOUL; Fiscal Year: 2008..These are new properties of NH3/NH4+ transport that will help explain the role of NH3 and NH4+ in acidosis and their effect on transport of other ions a well. ..
- HIV-Related Proteinuria and Endothelial DysfunctionSamir Gupta; Fiscal Year: 2007..Dub6) in the fields of HIV metabolic and renal complications, renal vascular and glomerular pathology, and clinical trials design and implementation. ..
- Phase II Trial of Thalidomide in Primary AmyloidosisAngela Dispenzieri; Fiscal Year: 2002..The ultimate goal of the proposed studies is to improve the prognosis of patient with this fatal disease. ..
- Isolation of Murine Pancreatic Liver Stem CellsMarkus Grompe; Fiscal Year: 2004..Monoclonal antibodies useful for FACS sorting of pancreatic cells will be generated. We will apply cell-sorting methods to enrich pancreatic liver stem cells. ..
- FASEB Conference: Mechanisms of Liver Growth and DiseaseMarkus Grompe; Fiscal Year: 2004..abstract_text> ..
- Cell Therapy by In Vivo FusionMarkus Grompe; Fiscal Year: 2007..Aim 3 is geared toward enhancing the efficiency of in vivo fusion and thereby increasing the number of bone marrow derived hepatocytes. Fusogenic viral envelope proteins will be used to artificially induce cell fusion. ..