A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation

Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypo...

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Vydáno v:Clin Pediatr Endocrinol
Hlavní autoři: Mitani, Marie, Furuichi, Munehiro, Narumi, Satoshi, Hasegawa, Tomonobu, Chiga, Motoko, Uchida, Shinichi, Sato, Seiji
Médium: Artigo
Jazyk:Inglês
Vydáno: The Japanese Society for Pediatric Endocrinology 2016
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5069541/
https://ncbi.nlm.nih.gov/pubmed/27780982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.25.127
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