A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.

ABSTRACT:

Context

Pseudohypoaldosteronism (PHA) is a condition in which serum aldosterone level is normal or elevated but its action is deficient.

Objective

This study describes the molecular genetics of PHA 1b in the highly consanguineous population of 2 Arabian Gulf countries, Saudi Arabia and Oman.

Methods

This study enrolled 22 patients from 13 unrelated families (2 families with 5 patients from Oman and 11 families with 17 patients from Saudi Arabia). All of these patients had presented within the first 10 days of life with nausea and vomiting, hyponatremia, hyperkalemia, and hypotension. We isolated DNA from peripheral blood and PCR-sequenced all exons and exon-intron boundaries of SCNN1A and, if negative, SCNN1B and SCNN1G using the Dideoxy Chain ter

SUBMITTER: Alzahrani AS 

PROVIDER: S-EPMC8272535 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature