Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis

Abstract

Background:

Hereditary spherocytosis and hereditary dRTA are associated with mutations in the SLC4A1 gene encoding the AE1. 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 WES 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 variant were identified in the SLC4A1 and SPTA1 genes, respectively. The compound heterozygous mutations manifested as idRTA and severe HS in patient HS03.

Conclusion:

Our observations, for the first time, revealed clinical and genetic characteristics of idRTA and severe HS in an Iranian patient HS03.