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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Detalles Bibliográficos
Autores principales: Kala Ahluwalia, Gunjeet, Dasouki, Majed, Lennon, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270719/
https://www.ncbi.nlm.nih.gov/pubmed/25548639
http://dx.doi.org/10.1002/ccr3.129
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author Kala Ahluwalia, Gunjeet
Dasouki, Majed
Lennon, Angela
author_facet Kala Ahluwalia, Gunjeet
Dasouki, Majed
Lennon, Angela
author_sort Kala Ahluwalia, Gunjeet
collection PubMed
description 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, stressing differential effects of the mutation in each organ.
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spelling pubmed-42707192014-12-29 Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point Kala Ahluwalia, Gunjeet Dasouki, Majed Lennon, Angela Clin Case Rep Case Reports 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, stressing differential effects of the mutation in each organ. Blackwell Publishing Ltd 2014-12 2014-09-15 /pmc/articles/PMC4270719/ /pubmed/25548639 http://dx.doi.org/10.1002/ccr3.129 Text en © 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Kala Ahluwalia, Gunjeet
Dasouki, Majed
Lennon, Angela
Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
title Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
title_full Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
title_fullStr Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
title_full_unstemmed Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
title_short Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
title_sort phenotypic variation of autosomal recessive pseudohypoaldosteronism type i: a case in point
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270719/
https://www.ncbi.nlm.nih.gov/pubmed/25548639
http://dx.doi.org/10.1002/ccr3.129
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AT dasoukimajed phenotypicvariationofautosomalrecessivepseudohypoaldosteronismtypeiacaseinpoint
AT lennonangela phenotypicvariationofautosomalrecessivepseudohypoaldosteronismtypeiacaseinpoint

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