Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child

SUMMARY: Systemic pseudohypoaldosteronism type 1 (PHA1) is a rare genetic syndrome of tissue unresponsiveness to aldosterone caused by mutations affecting the epithelial Na channel (ENaC). The classical presentation is life-threatening neonatal/infantile salt-losing crises that mimic congenital adre...

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Detalles Bibliográficos
Autores principales: Abdalla, Asmahan, Alhassan, Mohammed Abdulrahman, Tawfeeg, Reem, Sanad, Ayman, Tawamie, Hasan, Abdullah, Mohamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8240716/
https://www.ncbi.nlm.nih.gov/pubmed/34165441
http://dx.doi.org/10.1530/EDM-21-0010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8240716/
https://www.ncbi.nlm.nih.gov/pubmed/34165441
http://dx.doi.org/10.1530/EDM-21-0010

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