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. Considering the renal type symptoms disappear in the toddler age group. The systemic type can -apart from the kidneys - affect colon, lungs, salivary and sweat glands. In that case symptoms persist until adulthood.