International Urology and Nephrology

, Volume 43, Issue 1, pp 233–236 | Cite as

Acquired Gitelman’s syndrome: an oxymoron?

  • Renu Bansal
  • Vinay K. Ranga
Nephrology – Case Report


We present the case of a 27-year-old woman with end stage renal disease from Diabetes Mellitus type 1 who had been on hemodialysis for a year. Her father, who was otherwise healthy, was evaluated as a possible living donor. Incidentally, during the workup process, he was identified as having Gitelman’s syndrome (GS). The transplant proceeded without any complications, following which the recipient developed biochemical abnormalities consistent with GS. Both donor and recipient are doing well at this time. To our knowledge, this is the only known case of kidney donation by a patient with GS either living or deceased.


SLC12A3 Gene Transient Receptor Potential Channel Distal Convoluted Tubule Normal Kidney Function Calcium Pyrophosphate 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Gitelman HJ, Graham JB, Welt LG (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79:221–235PubMedGoogle Scholar
  2. 2.
    Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC et al (1992) Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120:38–43. doi: 10.1016/S0022-3476(05)80594-3 PubMedCrossRefGoogle Scholar
  3. 3.
    Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM et al (1996) Gitelman’s variant of Bartter’s syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12:24–30. doi: 10.1038/ng0196-24 PubMedCrossRefGoogle Scholar
  4. 4.
    Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D (2004) Bartter’s and Gitelman’s syndromes: from gene to clinic. Nephron Physiol 96:65–78CrossRefGoogle Scholar
  5. 5.
    Reissinger A, Ludwig M, Utsch B, Prömse A, Baulmann J, Weisser B et al (2002) Novel NCCT gene mutations as a cause of Gitelman’s syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney Blood Press Res 25:354–362. doi: 10.1159/000068695 PubMedCrossRefGoogle Scholar
  6. 6.
    Lin SH, Cheng NL, Hsu YJ, Halperin ML (2004) Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. Am J Kidney Dis 43:304–312. doi: 10.1053/j.ajkd.2003.10.018 PubMedCrossRefGoogle Scholar
  7. 7.
    Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB (2001) Yale Gitelman’s and Bartter’s syndrome collaborative study group. Gitelman’s syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 59:710–717. doi: 10.1046/j.1523-1755.2001.059002710.x PubMedCrossRefGoogle Scholar
  8. 8.
    Peters M, Jeck N, Reinalter S (2002) Clinical presentations of genotypically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 112:183–191. doi: 10.1016/S0002-9343(01)01086-5 PubMedCrossRefGoogle Scholar
  9. 9.
    Pachulski RT, Lopez F, Sharaf R (2005) Gitelman’s not so benign syndrome. N Engl J Med 353:850–885. doi: 10.1056/NEJMc051040 PubMedCrossRefGoogle Scholar
  10. 10.
    Tsukamoto T, Kobayashi T, Kawamoto K, Fukase M, Chihara K (1995) Possible discriminations of Gitelman’s syndrome from Bartter’s syndrome by renal clearance study: report of two cases. Am J Kidney Dis 25:637–641. doi: 10.1016/0272-6386(95)90137-X PubMedCrossRefGoogle Scholar
  11. 11.
    Colussi G, Rombola G, Brunati C, De Ferrari ME (1997) Abnormal reabsorption of Na+/Cl_ by the thiazide-inhibitable transporter of the distal convoluted tubule in Gitelman’s syndrome. Am J Nephrol 17:103–111PubMedCrossRefGoogle Scholar
  12. 12.
    McKee JA, Kumar S, Ecelbarger CA et al (2000) Detection of Na(+) transporter proteins in urine. J Am Soc Nephrol 11:2128–2132PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, B.V. 2010

Authors and Affiliations

  1. 1.University of Connecticut Health CenterFarmingtonUSA
  2. 2.Hartford HospitalHartfordUSA

Personalised recommendations