What is the role of type I pseudohypoaldosteronism (PHAI) caused by mutations in the NR3C2 in the development of hyperkalemia (high serum potassium level)?

Updated: Apr 09, 2020
  • Author: Eleanor Lederer, MD, FASN; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Another form of PHAI is caused by mutations in the NR3C2 gene and is inherited in an autosomal dominant manner. Patients with this disorder may present in the neonatal period with renal salt wasting and hyperkalemic acidosis similar to those seen in the autosomal recessive form. Patients with this form of PHAI generally improve with age and are typically asymptomatic in adulthood. [41]

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