Orphanet: Familial hypoaldosteronism
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Familial hypoaldosteronism

Disease definition

A rare genetic hypoaldosteronism that typically presents in infancy (earl-onset familial hypoaldosternism) as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). A history of fever, diarrhoea, lethargy, poor weight gain, poor feeding since birth may also be present. Older subjects (late-onset familial hypoaldosteronism) are less severely affected or asymptomatic.

ORPHA:427

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Adolescent, Adult, Neonatal
  • ICD-10: E27.4
  • OMIM: 203400  606984  610600
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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