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Early-onset familial hypoaldosteronism

Disease definition

A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.

ORPHA:556030

Classification level: Subtype of disorder
  • Synonym(s):
    • Early-onset familial hyperreninemic hypoaldosteronism
    • Severe aldosterone synthase deficiency
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal, Infancy, Childhood, Adolescent
  • ICD-10: E27.4
  • ICD-11: 5A73
  • OMIM: -
  • UMLS: C5680171
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

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Further information on this disease

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Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.