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Familial hypoaldosteronism

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

Summary

Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and 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. Increased sodium intake and mineralocorticoid supplementation provides effective treatment. Older subjects are less severely affected or asymptomatic.


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