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 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.