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Kala Ahluwalia G, Dasouki M, Lennon A. Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. Clin Case Rep. 2014;2(6):326-30doi: 10.1002/ccr3.129.
Kala Ahluwalia, G., Dasouki, M., & Lennon, A. (2014). Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. Clinical case reports, 2(6), 326-30. https://doi.org/10.1002/ccr3.129
Kala Ahluwalia, Gunjeet, et al. "Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point." Clinical case reports vol. 2,6 (2014): 326-30. doi: https://doi.org/10.1002/ccr3.129
Kala Ahluwalia G, Dasouki M, Lennon A. Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. Clin Case Rep. 2014 Dec;2(6):326-30. doi: 10.1002/ccr3.129. Epub 2014 Sep 15. PMID: 25548639; PMCID: PMC4270719.
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Clin Case Rep. 2014 Dec;2(6):326-30. doi: 10.1002/ccr3.129. Epub 2014 Sep 15.

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

Clinical case reports

Gunjeet Kala Ahluwalia, Majed Dasouki, Angela Lennon

Affiliations

  1. Department of Pediatrics, Division of Pediatric Nephrology, University of Kansas Medical Center Kansas City, Kansas.
  2. Department of Genetics, King Faisal Specialist Hospital & Research Center Riyadh, Saudi Arabia ; Department of Neurology, University of Kansas Medical Center Kansas City, Kansas.
  3. Department of Pediatrics, Division of Pediatric Endocrinology, University of Kansas Medical Center Kansas City, Kansas.

PMID: 25548639 PMCID: PMC4270719 DOI: 10.1002/ccr3.129

Abstract

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.

Keywords: ENaC; SCNN1A; epithelial sodium channel; hyperkalemia; hyponatremia; pseudohypoaldosteronism; salt-wasting

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