临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (6): 418-.doi: 10.3969/j.issn.1000-3606.2020.06.005

• 泌尿系统疾病专栏 • 上一篇    下一篇

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

陈雁, 许珊珊, 白海涛, 杨阳   

  1. 厦门大学附属第一医院儿科 厦门市儿科重点实验室 厦门大学医学院  儿童医学研究所(福建厦门 361000)
  • 出版日期:2020-06-15 发布日期:2020-06-12
  • 通讯作者: 白海涛 电子信箱:baihaitao@163.com

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

 CHEN Yan, XU Shanshan, BAI Haitao, YANG Yang   

  1. 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:2020-06-15 Published:2020-06-12

摘要: 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。

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