Open AccessPhenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point
Author(s) -
Kala Ahluwalia Gunjeet,
Dasouki Majed,
Len Angela
Publication year - 2014
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.129
Subject(s) - pseudohypoaldosteronism , epithelial sodium channel , medicine , phenotype , point mutation , mutation , endocrinology , genetics , gene , hyperkalemia , biology , sodium , chemistry , organic chemistry
Key Clinical Massage We present a 27‐month‐old male infant with pseudohypoaldosteronism, with two novel α ‐subunits, epithelial sodium channel ( EN aC) mutations. Despite the presence of the EN aC 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.