Autosomal recessive (type 1B) pseudohypoaldosteronism: a novel mutation and its management

Abstract

Pseudohypoaldosteronism (PHA) type 1B is a rare genetic disorder in which electrolyte imbalances are caused by resistance to the action of aldosterone. Clinical symptoms include episodes of salt wasting, metabolic acidosis and hyperkalaemia and may include intestinal salt wasting and a generalised rash. In this case report, the authors describe the presentation, initial and specific management, outcomes and molecular diagnostic confirmation of a neonate who presented with PHA type 1B. The patient was found to have a mutation in the gene encoding the beta subunit of sodium channel epithelial 1, which is a component of the epithelial sodium channel. The difficulty in managing the patient was not only due to a complex diagnostic work-up but also to recurrent electrolyte imbalances.

Keywords: Endocrinology; Paediatrics; Renal intervention; Renal system.