SLC4A1 compound heterozygous mutation causes hereditary spherical polycythemia with distal renal tubular acidosis: a case report and literature review

  • 陈雁,许珊珊,白海涛,等
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  • Pediatric Department of First Affiliated Hospital of Xiamen University; Pediatric Key Labratory of Xiamen; Institute of Pediatrics, School of Medicine Xiamen University, Xiamen 361000, Fujian, China

Online published: 2020-06-12

Abstract

Objective To explore the relationship between the clinical phenotype and genetic variation of hereditary sphrocytosis (HS) and distal renal tubular acidosis (dRTA) caused by SLC4A1 compound heterozygous mutation. Methods The clinical data of HS combined with dRTA in a child, as well as the results of peripheral blood exon sequencing and Sanger verification in the child and his parents was retrospectively analyzed. Results The male patient, aged 1 year and 7 months old, was mainly suffered with transfusion-dependent hereditary sphrocytosis, metabolic acidosis, hypokalemia and growth retardation. Two reported missense variants, c.2102G>A p. (Gly701Asp) and c. 1988T> c p. (Met663Thr), were detected in the SLC4A1 gene of the child, respectively derived from his parents. Conclusion The HS combined with dTA caused by SLC4A1 complex heterozygosity was confirmed by gene detection, which was consistent with autosomal recessive inheritance.

Cite this article

陈雁,许珊珊,白海涛,等 . SLC4A1 compound heterozygous mutation causes hereditary spherical polycythemia with distal renal tubular acidosis: a case report and literature review[J]. Journal of Clinical Pediatrics, 2020 , 38(6) : 418 . DOI: 10.3969/j.issn.1000-3606.2020.06.005

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