title: A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying aKLHL3mutation.
abstract: Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4,WNK1,KLHL3, andCUL3) are known to cause PHA II. We report a patient with PHA II carrying aKLHL3mutation, who also had congenital hypopituitarism. The patient, a 3-yr-old boy, experienced loss of consciousness at age 10 mo. He exhibited growth failure, hypertension, hyperkalemia, and metabolic acidosis. We diagnosed him as having PHA II because he had low plasma renin activity with normal plasma aldosterone level and a low transtubular potassium gradient. Further investigations revealed defective secretion of GH and gonadotropins and anterior pituitary gland hypoplasia. Genetic analyses revealed a previously known heterozygousKLHL3mutation (p.Leu387Pro), but no mutation was detected in 27 genes associated with congenital hypopituitarism. He was treated with sodium restriction and recombinant human GH, which normalized growth velocity. This is the first report of a molecularly confirmed patient with PHA II complicated by congenital hypopituitarism. We speculate that both GH deficiency and metabolic acidosis contributed to growth failure. Endocrinological investigations will help to individualize the treatment of patients with PHA II presenting with growth failure.
authors: Department of Pediatrics, Saitama City Hospital, Saitama, Japan; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors: Marie
authors: M
authors: Mitani
authors: Department of Pediatrics, Saitama City Hospital, Saitama, Japan.
authors: Munehiro
authors: M
authors: Furuichi
authors: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors: Satoshi
authors: S
authors: Narumi
authors: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors: Tomonobu
authors: T
authors: Hasegawa
authors: Department of Nephrology, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Motoko
authors: M
authors: Chiga
authors: Department of Nephrology, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Shinichi
authors: S
authors: Uchida
authors: Department of Pediatrics, Saitama City Hospital, Saitama, Japan.
authors: Seiji
authors: S
authors: Sato
keywords: KLHL3; congenital hypopituitarism; growth failure; pseudohypoaldosteronism type II