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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Salvato in:
Dettagli Bibliografici
Pubblicato in:Endocrinol Diabetes Metab Case Rep
Autori principali: Abdalla, Asmahan, Alhassan, Mohammed Abdulrahman, Tawfeeg, Reem, Sanad, Ayman, Tawamie, Hasan, Abdullah, Mohamed
Natura: Artigo
Lingua:Inglês
Pubblicazione: Bioscientifica Ltd 2021
Soggetti:
Unique/Unexpected Symptoms or Presentations of a Disease
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8240716/
https://ncbi.nlm.nih.gov/pubmed/34165441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-21-0010
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