Research Topics
| M KonradSummaryAffiliation: University Hospital Country: Switzerland Publications
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Detail Information
Publications
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvementMartin Konrad
University Children s Hospital, Inselspital, Bern, Switzerland
Am J Hum Genet 79:949-57. 2006....- [Electrolyte imbalances in infancy and childhood]M Konrad
Pädiatrische Nephrologie, Medizinische Universitats Kinderklinik, Inselspital, Bern
Ther Umsch 62:557-64. 2005..Therefore, long lasting (chronic) disorders must in general be corrected very slowly, whereas in acute disturbances rapid correction is better tolerated... - [Examination of urine in the child]G D Simonetti
Pädiatrische Nephrologie, Universitäts Kinderklinik Bern, Inselspital, Bern
Ther Umsch 63:579-84. 2006..Urate crystals in the urine of infants may cause a pink discoloration to nappies. Urine screenings are not very useful and should be performed only at the age of 5 years or by sexual-active adolescents... - Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humansEva Maria Schönfelder
Pediatric Nephrology, University Children s Hospital, Heidelberg, Germany
Am J Kidney Dis 47:1004-12. 2006..De novo UPIIIA mutations recently were identified in 4 of 17 patients with severe bilateral renal adysplasia... - Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemiaVladimir Chubanov
Institute for Pharmacology and Toxicology, Philipps University Marburg, 35033 Marburg, Germany
Proc Natl Acad Sci U S A 101:2894-9. 2004..Together, our data suggest an important contribution of TRPM6/TRPM7 heterooligomerization for the biological role of TRPM6 in epithelial magnesium absorption... - TRPM6 and TRPM7--Gatekeepers of human magnesium metabolismKarl P Schlingmann
University Children s Hospital, Philipps University, Deutschhausstr 12, 35037 Marburg, Germany
Biochim Biophys Acta 1772:813-21. 2007.... - Clinical course and NPHS2 analysis in patients with late steroid-resistant nephrotic syndromePeter Schwaderer
Division of Pediatric Nephrology, University Children s Hospital Heidelberg, Im Neuenheimer Feld 150, 69120, Heidelberg, Germany
Pediatr Nephrol 23:251-6. 2008..With respect to the clinical course, late resistance appears to resemble SSNS and is characterized by a favorable outcome... - CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosisMartin Konrad
Department of Pediatrics, , Waldeyerstrasse 22, , Germany
J Am Soc Nephrol 19:171-81. 2008 - Paracellin-1 gene mutation with multiple congenital abnormalitiesMehmet Turkmen
Faculty of Medicine, Department of Pediatrics, Dokuz Eylul University, Izmir, Turkey
Pediatr Nephrol 21:1776-8. 2006..To the best of our knowledge, this is the youngest case diagnosed as familial hypomagnesemia with hypercalciuria and nephrocalcinosis and the first case having such additional congenital abnormalities independent of the disease itself... - Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporterCarsten A Pressler
Department of Pediatrics, Philipps University of Marburg, Marburg, Germany
J Am Soc Nephrol 17:2136-42. 2006..The partial function of NKCC2-F177Y, which is not negatively affected by NKCC2-D918fs, therefore explains a mild and late-onset phenotype and for the first time establishes a mild phenotype-associated SLC12A1 gene mutation... - An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diureticsFaruk Kutluturk
Department of Endocrinology and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
Horm Res 66:175-81. 2006..This case indicates the pathogenetic role of paracellin-1 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis and further underlines the risk of stone formation in heterozygous mutation carriers... - Claudin-16 and claudin-19 interact and form a cation-selective tight junction complexJianghui Hou
Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
J Clin Invest 118:619-28. 2008..Our data show that CLDN16 interacts with CLDN19 and that their association confers a TJ with cation selectivity, suggesting a mechanism for the role of mutant forms of CLDN16 and CLDN19 in the development of FHHNC... - Barttin mutations in antenatal Bartter syndrome with sensorineural deafnessFerda Ozlu
Pediatr Nephrol 21:1056-7. 2006 - Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene familyKarl P Schlingmann
Department of Pediatrics, Philipps University of Marburg, Deutschhausstrasse 12, D 35037 Marburg, Germany
Nat Genet 31:166-70. 2002..TRPM6 is expressed in intestinal epithelia and kidney tubules. These findings indicate that TRPM6 is crucial for magnesium homeostasis and implicate a TRPM family member in human disease... - Hydrochlorothiazide in CLDN16 mutationBettina Zimmermann
, Friedrich-Alexander-University of Erlangen-Nuremberg, Loschgestr. 15, D-91054 Erlangen, Germany
Nephrol Dial Transplant 21:2127-32. 2006..CONCLUSIONS: We demonstrated that HCT is effective in reducing hypercalciuria due to CLDN16 mutation on a short-term basis. However, the efficacy of HCT to attenuate disease progression remains to be elucidated... - Barttin increases surface expression and changes current properties of ClC-K channelsSiegfried Waldegger
Department of Pediatrics, Philipps University of Marburg, Deutschhausstr 12, 35033 Marburg, Germany
Pflugers Arch 444:411-8. 2002..The results demonstrate regulation of a CLC chloride channel by an accessory protein and indicate that ClC-K activation by barttin is required for adequate tubular salt reabsorption... - Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 geneMatthias T F Wolf
, , 91054 Erlangen, Germany
Pediatr Nephrol 17:602-8. 2002..Early treatment with vitamin D and calcium was essential to maintain growth. Adequate treatment allows for a normal height and pubertal development... - Recent advances in molecular genetics of hereditary magnesium-losing disordersMartin Konrad
University Children s Hospital, Marburg, Germany
J Am Soc Nephrol 14:249-60. 2003.... - Genetics of hereditary disorders of magnesium homeostasisKarl P Schlingmann
Department of Pediatrics, Philipps University, Deutschhausstrasse 12, 35037 Marburg, Germany
Pediatr Nephrol 19:13-25. 2004.... - Insights into the molecular nature of magnesium homeostasisMartin Konrad
University Children s Hospital, Philipps University, Deutschhausst 12, 35037 Marburg, Germany
Am J Physiol Renal Physiol 286:F599-605. 2004.... - Salt wasting and deafness resulting from mutations in two chloride channelsKarl P Schlingmann
Department of Pediatrics, Philipps University of Marburg, Marburg, Germany
N Engl J Med 350:1314-9. 2004 - Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family studyVelibor Tasic
University Children s Hospital, 17 Vodnjanska, 1000 Skopje, Macedonia
Pediatr Nephrol 20:1003-6. 2005..In addition, heterozygotes at risk should be clinically assessed in order to prevent renal complications of hypercalciuria... - Gene locus ambiguity in posterior urethral valves/prune-belly syndromeStefanie Weber
Pediatric Nephrology, University Children s Hospital Heidelberg, Germany
Pediatr Nephrol 20:1036-42. 2005..Analyses of additional informative families will be important to exclude one of the two loci and to restrict the critical interval... - Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemiaKarl P Schlingmann
University Children s Hospital Marburg, Deutschhausstrasse 12, 35037 Marburg, Germany
J Am Soc Nephrol 16:3061-9. 2005..This is best explained by a disturbed magnesium conservation in the distal convoluted tubule, which emerged in all patients upon magnesium supplementation. Delay of diagnosis resulted in permanent neurologic damage in three patients... - Percutaneous endoscopic gastrostomy in children on peritoneal dialysisChristian von Schnakenburg
Department for Pediatrics and Adolescent Medicine, University Hospitals, Mathildenstrasse 1, D 79106 Freiburg, Germany
Perit Dial Int 26:69-77. 2006..However, no systematic survey on this topic has yet been published... - Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblingsHarun Peru
Department of Pediatric Nephrology, Meram Medical Faculty, Selcuk University, 42080 Konya, Turkey
Pediatr Nephrol 23:1009-12. 2008..Here, we report on three Turkish siblings with typical clinical features of FHHNC in association with the homozygous mutation Leu151Phe...