[Phenotype heterogeneity in Gitelman's syndrome].
A family with three offspring affected of Giltelman's syndrome is reported. The phenotypic variability of this entity is emphasized. Moreover, the diagnosis criteria of the syndrome, phathophysiology, and genetics and clinical differences with Bartter's syndrome are stated.
Vidal Company
A
A
Servicio de Pediatría, Hospital General de Albacete.
Ruiz Cano
R
R
Gutiérrez Junquera
C
C
Lillo Lillo
M
M
Onsurbe Ramírez
I
I
D000471:Alkalosis / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007008:Hypokalemia / Q000235:genetics*; D007674:Kidney Diseases / Q000378:metabolism; D007684:Kidney Tubules; D008274:Magnesium / Q000097:blood*; D010641:Phenotype; D012083:Renin / Q000097:blood*; D013577:Syndrome
D012083:Renin; D008274:Magnesium