A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene enc...

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Detalles Bibliográficos
Autores principales: Lee, Se Eun, Jung, Yun Hye, Han, Kyoung Hee, Lee, Hyun Kyung, Kang, Hee Gyung, Ha, Il Soo, Choi, Yong, Cheong, Hae Il
Formato: Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077507/
https://www.ncbi.nlm.nih.gov/pubmed/21503203
http://dx.doi.org/10.3345/kjp.2011.54.2.90

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3077507/
https://www.ncbi.nlm.nih.gov/pubmed/21503203
http://dx.doi.org/10.3345/kjp.2011.54.2.90

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