Mi SciELO
Servicios Personalizados
Revista
Articulo
Indicadores
Citado por SciELO
Accesos
Links relacionados
Citado por Google
Similares en SciELO
Similares en Google
Compartir
Pediatría Atención Primaria
versión impresa ISSN 1139-7632
Resumen
MORATA ALBA, J. y 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.
Palabras clave : Gitelman syndrome; Potassium.