Abstract
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.
References
Gitelman HJ, Graham JB, Welt LG (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79:221–235
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
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
Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D (2004) Bartter’s and Gitelman’s syndromes: from gene to clinic. Nephron Physiol 96:65–78
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
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
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
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
Pachulski RT, Lopez F, Sharaf R (2005) Gitelman’s not so benign syndrome. N Engl J Med 353:850–885. doi:10.1056/NEJMc051040
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
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 17:103–111
McKee JA, Kumar S, Ecelbarger CA et al (2000) Detection of Na(+) transporter proteins in urine. J Am Soc Nephrol 11:2128–2132
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Bansal, R., Ranga, V.K. Acquired Gitelman’s syndrome: an oxymoron?. Int Urol Nephrol 43, 233–236 (2011). https://doi.org/10.1007/s11255-010-9727-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11255-010-9727-6