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Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. 2014

Gunjeet Kala Ahluwalia, and Majed Dasouki, and Angela Lennon
Department of Pediatrics, Division of Pediatric Nephrology, University of Kansas Medical Center Kansas City, Kansas.

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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