Gitelman’s syndrome – a diagnosis to have in mind
Keywords:
Gitelman’s syndrome, familial hypokalaemia-hypomagnesaemia, benign variant of Bartter’s syndrome, SLC12A3, thiazide-sensitive NaCl cotransporter, NCCTAbstract
Gitelman’s syndrome, also referred to as familial hypokalaemia-
-hypomagnesaemia or benign variant of Bartter’s syndrome, is
an inherited renal tubular disorder transmitted with an autosomal
recessive pattern.
Clinically it is characterized by hypokalaemia, metabolic
alkalosis, hypomagnesaemia, hypocalciuria and secondary
hyperaldosteronism.
A mutation in the SLC12A3 gene (Solute Carrier Family 12,
Member 3 gene) encoding the thiazide-sensitive NaCl cotransporter (NCCT), is responsible for this syndrome.
Although a rare disease, the heterozygotes prevalence is about
1%, making it one of the most common hereditary renal tubular
diseases.
Most cases are identified, by chance, during adolescence or
in adulthood.
Weakness, paraesthesias, tetany and lower blood pressure
than in the general population, respond well to supplements of
the lacking salts and to potassium sparing diuretics, granting an
excellent long term prognosis, being our case an example.
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