Abstract

Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a neonate for consanguineous parents who developed refractory hypotension, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17-hydroxy progesterone, ACTH and cortisol. An inappropriately normal serum aldosterone level and normal serum 18 hydroxy corticosterone levels with a low 18-hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. Patient was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes and blood pressure. Molecular analysis reveals no mutation in CYP11B2. This patient may have a form of familial hyperreninemic hypoaldosteronism distinct from aldosterone synthase deficiency and the affected gene(s) remain to be determined. Further homozygosity mapping is needed to ascertain the precise nature of the mutation.

Keywords

Congenital, Hyperreninemic, Hypoaldosteronism, Preterm, Mutation, CYP11B2, Hypotension

Cite This Article

Alghamdi, K. A., Mawlawi, H., Altawil, A., & Mijmaj, F. A. (2015). Congenital Hyperreninemic Hypoaldosteronism: A Case Report, International Journal for Pharmaceutical Research Scholars (IJPRS), 4(4), 153-156.