[Phenotype heterogeneity in Gitelman's syndrome]

An Esp Pediatr. 2000 Mar;52(3):285-8.
[Article in Spanish]

Abstract

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Alkalosis / genetics*
  • Child
  • Female
  • Humans
  • Hypokalemia / genetics*
  • Kidney Diseases / metabolism
  • Kidney Tubules*
  • Magnesium / blood*
  • Phenotype
  • Renin / blood*
  • Syndrome

Substances

  • Renin
  • Magnesium