American Journal of Kidney Diseases
Volume 50, Issue 5 , Pages 765-773 , November 2007

Reduced Urinary Excretion of Thiazide-Sensitive Na-Cl Cotransporter in Gitelman Syndrome: Preliminary Data

  • Kwon Wook Joo, MD

      Affiliations

    • Department of Internal Medicine, Seoul National University College of Medicine and Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
    • ,
  • Jay Wook Lee, MD

      Affiliations

    • Department of Internal Medicine, Seoul National University College of Medicine and Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
    • ,
  • Hye Ryoun Jang, MD

      Affiliations

    • Department of Internal Medicine, Seoul National University College of Medicine and Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
    • ,
  • Nam Ju Heo, MD

      Affiliations

    • Department of Internal Medicine, Seoul National University College of Medicine and Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
    • ,
  • Un Sil Jeon, MD

      Affiliations

    • Department of Internal Medicine, Seoul National University College of Medicine and Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
    • ,
  • Yun Kyu Oh, MD

      Affiliations

    • Department of Internal Medicine, Seoul National University College of Medicine and Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
    • ,
  • Chun Soo Lim, MD

      Affiliations

    • Department of Internal Medicine, Seoul National University College of Medicine and Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
    • ,
  • Ki Young Na, MD,

      Affiliations

    • Department of Internal Medicine, Seoul National University College of Medicine and Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
    • ,
  • Jin Kim, MD

      Affiliations

    • Department of Anatomy, Catholic University College of Medicine, Seoul National University College of Medicine, Seoul, Korea
    • ,
  • Hae Il Cheong, MD

      Affiliations

    • Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
    • ,
  • Jin Suk Han, MD, PhD

      Affiliations

    • Department of Internal Medicine, Seoul National University College of Medicine and Clinical Research Institute, Seoul National University Hospital, Seoul, Korea
    • Corresponding Author InformationAddress correspondence to Jin Suk Han, MD, PhD, Department of Internal Medicine, Seoul National University, Clinical Research Institute, Seoul National University Hospital, 28, Yongun-dong, Chongno-gu, Seoul, 110-744, Republic of Korea.

Received 13 March 2007 ,Accepted 31 July 2007.

References 

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  2. Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman’s variant of Bartter’s syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet. 1996;12:24–30
  3. Mastroianni N, Bettinelli A, Bianchetti M, et al. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet. 1996;59:1019–1026
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  19. 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
  20. Kunchaparty S, Palcso M, Berkman J, et al. Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman’s syndrome. Am J Physiol. 1999;277:F643–F649
  21. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812–3814
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  24. Lemmink HH, Knoers NV, Karolyi L, et al. Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int. 1998;54:720–730
  25. Syren ML, Tedeschi S, Cesareo L, et al. Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome. Hum Mutat. 2002;20:1–5
  26. Pacheco-Alvarez D, Cristobal PS, Meade P, et al. The Na+:Cl− cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion. J Biol Chem. 2006;281:28755–28763
  27. Ring T, Knoers N, Oh MS, Halperin ML. Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome. Pediatr Nephrol. 2002;17:612–616
  28. Jang HR, Lee JW, Oh YK, et al. From bench to bedside: Diagnosis of Gitelman’s syndrome-defect of sodium-chloride cotransporter in renal tissue. Kidney Int. 2006;70:813–817

 K.W.J. and J.W.L. contributed equally to this work.Originally published online as doi:10.1053/j.ajkd.2007.07.022 on September 27, 2007.

PII: S0272-6386(07)01129-8

doi: 10.1053/j.ajkd.2007.07.022

American Journal of Kidney Diseases
Volume 50, Issue 5 , Pages 765-773 , November 2007

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