A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.

ABSTRACT:

Background

There have been still few case reports of pseudohypoaldosteronism type II (PHA2), also known as Gordon's syndrome, genetically diagnosed, and this is the first report of familial PHA2 case in Japan with a novel D564N mutation in WNK4.

Methods

A 29-year-old woman was admitted to our hospital due to hyperkalemia (serum potassium: 6.4 mmol/L). She had mild hypertension (135/91 mm Hg), a bicarbonate level at the lower limit of the normal range (HCO₃ : 22 mmol/L) with a normal anion gap, low plasma renin activity (0.2 ng ml^-1  hr^-1 ), and high urinary calcium excretion (505.4 mg/g Cre). A hereditary condition was suspected because her mother also had the same symptoms. We performed a comprehensive genetic analysis for major inherited ki

SUBMITTER: Sakoh T 

PROVIDER: S-EPMC6565545 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature