Advances in Chronic Kidney Disease
Volume 13, Issue 2 , Pages 148-154 , April 2006

Gitelman Syndrome

  • Nine V.A.M. Knoers

      Affiliations

    • Corresponding Author InformationAddress correspondence to Nine V.A.M. Knoers, MD, PhD, Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

References 

  1. Knoers NVAM , Starremans PGJF , Monnens LAH . Hypokalemic tubular disorders . In:  Davidson AM ,  Cameron JS ,  Grunfeld J-P , et al. editor. Oxford Textbook in Clinical Nephrology . Third Edition. Oxford University Press; 2005;p. 995–1004
  2. Loffing J , Loffing-Cueni D , Valderrabano V , et al.   Distribution of transcellular calcium and sodium transport pathways along mouse distal nehpron . Am J Physiol Renal Physiol . 2001;281:F1021–F1027
  3. de Jong JC , van der Vliet WA , van den Heuvel LPWJ , et al.   Functional expression of mutations in the human NaCl cotransporter (NCC) (evidence for impaired routing mechanisms in Gitelman’s syndrome) . J Am Soc Nephrol . 2002;13:1442–1448
  4. de Jong JC , Willems PHGM , Mooren FJM , et al.   The structural unit of the thiazide-sensitive NaCl cotransporter (NCC) is a homodimer . J Biol Chem . 2003;278:24302–24307
  5. Sabath E , Meade P , Berkman J , et al.   Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease . Am J Physiol Renal Physiol . 2004;287:F195–F203
  6. de Jong JC , Willems PHGM , Goossens M , et al.   Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman’s syndrome in a mouse cortical collecting duct cell line . Nephrol Dial Transplant . 2004;19:1029–1032
  7. Nicolet-Barousse L , Blanchard A , Roux C , et al.   Inactivation of the Na-Cl-cotransporter (NCC) gene is associated with high BMD through both renal and bone mechanisms (Analysis of patients with Gitelman syndrome and NCC null mice) . J Bone Miner Res . 2005;20:799–808
  8. Bianchetti MG , Bettinelli A , Casez JP , et al.   Evidence for disturbed regulation of calciotropic hormone metabolism in Gitelman syndrome . J Clin Endocrinol Metab . 1995;80:224–228
  9. Cruz DN , Shaer AJ , Bia MJ , et al.   Gitelman’s syndrome revisited (An evaluation of symptoms and health-related quality of life) . Kidney Int . 2001;59:710–717
  10. Foglia PEG , Bettineli A , Tosetto C , et al.   Cardiac work up in primary hypokalemia-hypomagnesemia (Gitelman syndrome) . Nephrol Dial Transplant . 2004;19:1398–1402
  11. Pachulski RT , Lopez F , Sharaf R . Gitelman’s Not-so-benign syndrome . New Engl J Med . 2005;353:850–851
  12. Coto E , Rodriguez J , Jeck N , et al.   A new mutation (intron 9+1G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies . Kidney Int . 2004;65:25–29
  13. Bonfante L , Davis PA , Spinello M , et al.   Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman’s syndrome . Am J Kidney Dis . 2001;38:165–168
  14. Lin SH , Cheng NL , Hsu YJ , et al.   Intrafamiliar phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter . Am J Kidney Dis . 2004;43:304–312
  15. Nijenhuis T , Vallon V , van der Kemp AWCM , et al.   Enhanced passive Ca 2+ reabsorption and reduced Mg 2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia . J Clin Invest . 2005;115:1651–1658
  16. Schlingmann KP , Gudermann T . A critical role of TRPM6 channel-kinase for human magnesium transport . J Physiol . 2005;566:301–308
  17. Schlingmann KP , Sassan MC , Weber S . Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia . J Am Soc Nephrol . 2005;16:3061–3069

PII: S1548-5595(06)00015-2

doi: 10.1053/j.ackd.2006.01.014

Advances in Chronic Kidney Disease
Volume 13, Issue 2 , Pages 148-154 , April 2006

Article Tools

* Image Usage & Resolution