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aldosterone deficiency 1; corticosterone methyloxidase type 1 deficiency
Etiology:
- developmental disorder of aldosterone deficiency.
Genetics:
1) autosomal recessive
2) mutation in CYP11B2 gene
Clinical manifestations:
- infants with
- dehydration
- occasional vomiting
- poor feeding
- failure to gain weight
- intermittent fever
Laboratory:
1) plasma aldosterone is undetectable
2) plasma 18-hydroxycorticosterone* is low or normal
3) serum sodium (hypernatremia)
4) serum potassium (hypokalemia)
* immediate precursor of aldosterone
Related
aldosterone (Electrocortin, Aldocortin)
hypoaldosteronism; mineralocorticoid deficiency
General
developmental disorder of aldosterone deficiency
Database Correlations
OMIM 203400
References
OMIM :accession 203400