Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report

Pseudo hypoaldosteronism (PHA) is a type of channelopathy leading to life-threatening hyperkalemia, hyponatremia and metabolic acidosis in neonates. Type I PHA (PHAI) is characterized by either mutation in NR3C2 (MLR) gene or genes related to subunit of ENaC channel, whereas Type II (A to E) PHA is...

Descripción completa

Detalles Bibliográficos
Autores principales: Joshi, Kamal, Verma, Prashant Kumar, Barman, Manidipa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Communications and Publications Division (CPD) of the IFCC 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644093/
https://www.ncbi.nlm.nih.gov/pubmed/36447799

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644093/
https://www.ncbi.nlm.nih.gov/pubmed/36447799

Ejemplares similares