Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis

ABSTRACT:

Background

Hereditary spherocytosis (HS) and hereditary hereditary distal renal tubular acidosis (dRTA) are associated with mutations in the SLC4A1 gene encoding the anion exchanger 1. In this study, some patients with clinical evidence of congenital HS and renal symptoms were investigated.

Methods

Twelve patients with congenital HS and renal symptoms were recruited from Ali-Asghar Children’s Hospital (Tehran, Iran). A patient suspected of having dRTA was examined using whole exome sequencing method, followed by Sanger sequencing.

Results

One patient (HS03) showed severe failure to thrive, short stature, frequent urinary infection, and weakness. A homozygote (rs571376371 for c.2494C>T; p.Arg832Cys) and a heterozygote (rs377051298 for c.466C>T; p.Arg156Trp) missense va

SUBMITTER: Shahab-Movahed Z 

PROVIDER: S-EPMC8487683 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature