Congenital hypoaldosteronism.

Abstract

Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

• Authors: Vanathi Sethupathi, M Vijayakumar, Lalitha Janakiraman, B R Nammalwar
• Journal: Indian pediatrics (Indian Pediatr) Vol. 45 Issue 8 Pg. 695-7 (Aug 2008) ISSN: 0019-6061 [Print] India
• PMID: 18723916 (Publication Type: Case Reports, Journal Article)

Chemical References

• Anti-Inflammatory Agents
• Fludrocortisone

Topics

• Anti-Inflammatory Agents (therapeutic use)
• Female
• Fludrocortisone (therapeutic use)
• Humans
• Hypoaldosteronism (congenital, diagnosis, drug therapy)
• Infant