My SciELO
Services on Demand
Journal
Article
Indicators
- Cited by SciELO
- Access statistics
Related links
- Cited by Google
- Similars in SciELO
- Similars in Google
Share
Pediatría Atención Primaria
Print version ISSN 1139-7632
Abstract
MORATA ALBA, J. and HERVAS ANDRES, A.. Gitelman syndrome, a case report. Rev Pediatr Aten Primaria [online]. 2015, vol.17, n.67, pp.e183-e187. ISSN 1139-7632. https://dx.doi.org/10.4321/S1139-76322015000400007.
Tubulopathies are a heterogeneous group of conditions defined by abnormalities of renal tubular function. The Gitelman Syndrome, subject of our case, is caused by inactivating mutations of the SLC12A3 gene, which codifies the Na-Cl cotransporter thiazide, sensitive to the distal convoluted tubule, thus producing a urinary loss of Na Cl. It usually begins in late childhood or adolescence, with eagerness for salty foods, excessive tiredness, weakness and muscle cramps. A small proportion of children may have failure to thrive. Characteristically they do not have hypertension and decreased glomerular function. In some patients the clinical manifestations are mild and can go unnoticed.
Keywords : Gitelman syndrome; Potassium.