A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium (Na) levels. The abnormality results from mutations in the genes encoding subunits of the epithelial Na channel. Patients with PHA1 present in infancy as being in adrenal cri...

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Autors principals:	Mohammed Ayed Huneif, Ziyad Hamad Alhazmy, Anas M. Shoomi, Mohammed A. Alghofely, Humariya Heena, Aziza M. Mushiba, Abdulhamid Alsaheel
Format:	Artigo
Idioma:	Inglês
Publicat:	Pediatric Endocrinology and Diabetes Society 2022-06-01
Col·lecció:	JCRPE
Matèries:	pseudohypoaldosteronism hyperkalemia hyponatremia adrenal crisis congenital adrenal hyperplasia
Accés en línia:	https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-43531&look4=
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