Acquired Gitelman’s syndrome: an oxymoron?
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.
KeywordsSLC12A3 Gene Transient Receptor Potential Channel Distal Convoluted Tubule Normal Kidney Function Calcium Pyrophosphate
- 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
- 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