Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2

Pseudohypoaldosteronism type 1 (PHA1) is a disease characterized by neonatal salt loss due to aldosterone resistance. Two types of PHA1 are known: an autosomal recessive systemic form and an autosomal dominant renal form. The cause of the renal form of PHA1 is heterozygous mutations in NR3C2, which...

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Detalles Bibliográficos
Autores principales: Morikawa, Shuntaro, Komatsu, Nagisa, Sakata, Sonoko, Nakamura-Utsunomiya, Akari, Okada, Satoshi, Tajima, Toshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639533/
https://www.ncbi.nlm.nih.gov/pubmed/26594094
http://dx.doi.org/10.1297/cpe.24.135

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639533/
https://www.ncbi.nlm.nih.gov/pubmed/26594094
http://dx.doi.org/10.1297/cpe.24.135

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