Article
Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jan 2011
Herrero-Morín José David, Rodríguez Julián, Coto Eliecer, Gil-Peña Helena, Alvarez Victoria, Espinosa Laura, Loris César, Gil-Calvo Marta, Santos Fernando
Abstract excerpt
BACKGROUND: Gitelman syndrome is a primary tubular disorder causing hypokalaemic metabolic alkalosis with hypocalciuria. Its prevalence is high in Gypsies, who harbour an identical mutation, intron 9 + 1 G>T, in the SLC12A3 gene. METHODS: To better define the Gitelman syndrome in Gypsies, the clinical and biochemical features of 34 Spanish paediatric Gypsy patients were analysed. At diagnosis, symptoms, height...
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