Gitelman syndrome : A rare cause of refractory hypokalaemia and hypomagnesemia
Abstract
Hypokalaemia is a common clinical disorder, the
cause of which can usually be determined by the patient's
clinical history and biochemical evaluation. Gitelman
syndrome is an inherited tubulopathy that must be
considered in some settings of hypokalaemia. This
syndrome is characterised by hypokalaemic metabolic
alkalosis, hypomagnesaemia and hypocalciuria. Treatment
of this condition is usually by long term supplementation of
magnesium and potassium with or without
potassium-sparing diuretics. We describe a series of
4 patients, treated at our centre. We present this data in
order to highlight Gitelman syndrome in the differential
diagnosis of persistent or refractory hypokalaemia.
Full Text:
PDFReferences
Knoers NVAM, Levtchenko EN. Gitelman syndrome.
Orphanet J Rare Dis. 2008 Jul 30;3:22.
Gitelman HJ, Graham JB, Welt LG. A new familial
disorder characterized by hypokalemia and
hypomagnesemia. Trans Assoc Am Physicians.
;79:221–35.
Rudin A. Bartter’s syndrome. A review of 28 patients
followed for 10 years. Acta Med Scand. 1988;224(2):
–71.
Bettinelli A, Bianchetti MG, Girardin E, Caringella A,
Cecconi M, Appiani AC, et al. Use of calcium excretion
values to distinguish two forms of primary renal tubular
hypokalemic alkalosis: Bartter and Gitelman syndromes.
J Pediatr. 1992 Jan;120(1):38–43.
Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet
FE, Molina AM, et al. Gitelman’s variant of Bartter’s
syndrome, inherited hypokalaemic alkalosis, is caused by
mutations in the thiazide-sensitive Na-Cl cotransporter. Nat
Genet. 1996 Jan;12(1):24–30.
Riveira-Munoz E, Chang Q, Godefroid N, Hoenderop JG,
Bindels RJ, Dahan K, et al. Transcriptional and functional
analyses of SLC12A3 mutations: new clues for the
pathogenesis of Gitelman syndrome. J Am Soc Nephrol
JASN. 2007 Apr;18(4):1271–83.
Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB, 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. 2001
Feb;59(2):710–7.
Blanchard A, Vargas-Poussou R, Vallet M, Caumont-Prim
A, Allard J, Desport E, et al. Indomethacin, amiloride, or
eplerenone for treating hypokalemia in Gitelman syndrome.
J Am Soc Nephrol JASN. 2015 Feb;26(2):468–75.
Refbacks
- There are currently no refbacks.
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
An initiative of The Tamil Nadu Dr M.G.R. Medical University