hrp0084p2-184 | Adrenals | ESPE2015

Familial Hyporeninemic Hyperkalemia and Hypertension (Pseudohypoaldosteronism Type II) in Infancy and Childhood

Hanukoglu Aaron , London Shira , Halevi Rafael , Tenenbaum-Rakover Yardena

Background: Pseudohypoaldosteronism type II (PHAII), is a rare renal tubular disease with an autosomal dominant inheritance characterized by hyperkalemic, hyperchloremic acidosis and hyporeninemia. Mutations in WNK4 and WNK1 were found initially. Recently have shown that KLHL3 and CUL3 are also causative genes.Objective and hypotheses: Hypertension, an essential symptom of PHAII, manifest in adolescents and young adults. In the absence of family history ...