关键词: 遗传型球形红细胞增多症；　远端肾小管酸中毒；　SLC4A1基因；　复合杂合突变

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.

Key words: hereditary spherocytosis;　distal tubular acidosis;　SLC4A1;　complex heterozygous mutation