PSEUDOHYPOALDOSTERONISM TYPE 2

WNK1, WNK4, CUL3 and KLHL3 GENE ANALYSIS

Pseudohypoaldosteronism type 2 is characterized by hypertension and hyperkalemia despite normal glomerular filtration rate (GFR). Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described.

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.