SLC4A1复合杂合突变致遗传性球形红细胞增多症并远端肾小管酸中毒1例报告并文献复习

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

目的分析SLC4A1复合杂合突变致遗传性球形红细胞增多症(HS)并远端肾小管酸中毒(dRTA)的临床表型与基因变异的关系。方法回顾分析1例确诊HS合并dRTA患儿的临床资料,以及患儿及父母外周血全外显子测序及Sanger验证结果。结果男性患儿,1岁7个月,主要临床表现为输血依赖性球形红细胞增多、代谢性酸中毒、低钾血症及生长发育迟缓。检测到患儿SLC4A1基因2个已报道的错义变异c.2102G>A p(.Gly701Asp),c.1988T>C p(.Met663Thr),分别来源于父母。结论经基因检测确诊由SLC4A1复合杂合变异所致的遗传型HS合并dRTA,符合常染色体隐性遗传。

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.