title: Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point.
abstract: 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.
authors.affiliation: Department of Pediatrics, Division of Pediatric Nephrology, University of Kansas Medical Center Kansas City, Kansas.
authors.forename: Gunjeet
authors.initials: G
authors.lastname: Kala Ahluwalia
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital & Research Center Riyadh, Saudi Arabia ; Department of Neurology, University of Kansas Medical Center Kansas City, Kansas.
authors.forename: Majed
authors.initials: M
authors.lastname: Dasouki
authors.affiliation: Department of Pediatrics, Division of Pediatric Endocrinology, University of Kansas Medical Center Kansas City, Kansas.
authors.forename: Angela
authors.initials: A
authors.lastname: Lennon
keywords: ENaC; SCNN1A; epithelial sodium channel; hyperkalemia; hyponatremia; pseudohypoaldosteronism; salt-wasting