Failure to Thrive, Hyponatremia, Hyperkalemia - Differential Diagnostic Reflections of a Rare Genetic Disease.

Pseudohypoaldosteronism type I is a rare genetic disease of mineralocorticoid resistance that typically manifests in neonatal age. The patients are diagnosed with failure to thrive, dehydration, polyuria, vomiting, hyperkalemia, hyponatremia as well as potential metabolic acidosis accompanied by elevated values for serum aldosterone and renin. The disease is subdivided into a systemic and a renal type.