SEVERE HYPONATREMIA IN AN INFANT WITH PSEUDOHYPOALDOSTERONISM

Purpose (a): The purpose of this project is to present an interesting case of severe hyponatremia in an infant with pseudohypoaldosteronism and present information about the disease Pseudohypoaldosteronism including: definition, characteristics, etiology, presentation, management, and prognosis. Methods (b): Materials consist of a single patient’s records and methods consist of review of those records and a thorough review of published literature on Pseudohypoaldosteronism as available on Pubmed. Results (c): The patient was found to have a previously unidentified mutation in the genes known to be associated with autosomal dominant form of Pseudohypoaldosteronism and has required supplemental sodium of 11 mEq/kg/day in addition to a low potassium diet and potassium binding agents to make up for renal losses of sodium and hyperkalemia due to his disease. Conclusions (d): This patient has a novel gene mutation causing his disease and has required treatment of persistent electrolyte abnormalities by sodium supplements and potassium binding agents.