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Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point

KEY CLINICAL MASSAGE: We present a 27-month-old male infant with pseudohypoaldosteronism, with two novel α-subunits, epithelial sodium channel (ENaC) mutations. Despite the presence of the ENaC in the lungs, kidneys, and exocrine glands, he continues to only have renal and exocrine involvement, stre...

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Kala Ahluwalia, Gunjeet, Dasouki, Majed, Lennon, Angela
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4270719/
https://ncbi.nlm.nih.gov/pubmed/25548639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.129
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