Clinical and genotypic analysis of hereditary spherocytosis combined with cholestasis among pediatric patients
10.3760/cma.j.cn501113-20230210-00048
- VernacularTitle:遗传性球形红细胞增多症合并胆汁淤积患儿的临床和基因型分析
- Author:
Tao JIANG
1
;
Lian TANG
;
Hui ZHANG
;
Shuangjie LI
;
Wenxian OUYANG
Author Information
1. 湖南省儿童医院肝病中心，长沙 410007
- Keywords:
Hereditary spherocytosis;
Cholestasis;
Clinical features;
Treatment;
Gene
- From:
Chinese Journal of Hepatology
2023;31(9):943-946
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To understand the clinical and genetic characteristics of hereditary spherocytosis (HS) combined with cholestasis among pediatric patients.Methods:12 cases of HS children accompanied by cholestasis at Hunan Children's Hospital were selected as the research subjects between January 2013 and December 2022. Clinical data were collected. Whole-exome sequencing was performed by second-generation sequencing. Suspected pathogenic mutation sites were verified by Sanger sequencing.Results:All pediatric patients were admitted to the hospital due to their yellow skin tone. Eight cases (66.67%) had a positive family history. The clinical manifestations were jaundice, splenomegaly (12/12), abdominal pain, anemia (4/12), and hepatomegaly (5/12). All pediatric patients had decreased hemoglobin, an increased reticulocyte ratio, total bilirubin and direct bilirubin, a positive erythrocyte fragility test, and remarkable spherical erythrocytes in their peripheral blood. Seven cases had elevated aminotransferase; four cases had severely elevated aminotransferase and bilirubin; eight cases had biliary calculi; and two cases had a dilated biliary tract. Liver pathological examination showed mild damage to the liver cells (G1S1) in three pediatric cases. Five children had a total of six unreported mutations: SPTB gene c.2431_2450del, c.4974-2A > G, c.2575G > A, and exon 22-35 deletion; ANK1 gene: c.2379-2380delC; and c .6dupC. Children still had abnormal bilirubin levels following treatment. Two pediatric cases underwent splenectomy. Bilirubin and hemoglobin levels returned to normal after surgery. Conclusion:Children with HS may experience cholestasis, and those with poor treatment results may consider undergoing a splenectomy. Six new types of variants have expanded the HS gene mutation spectrum.
