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Familial hypoaldosteronism

ORPHA427
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E27.4
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Disease definition

Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).

Clinical description

The syndrome usually presents in infancy 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 are less severely affected or asymptomatic.

Etiology

It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene.

Management and treatment

Increased sodium intake and mineralocorticoid supplementation provides effective treatment.

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