[Hereditary spherocytosis with intrahepatic cholestasis caused by SPTB gene mutation in a case]

Zhonghua Er Ke Za Zhi. 2019 Nov 2;57(11):893-895. doi: 10.3760/cma.j.issn.0578-1310.2019.11.018.

[Article in Chinese]

Authors

Y D Zhang¹, N Y Zuo¹, S S Zhang¹, Q W Dong¹, S H Zhang¹, L Ma¹, L B Fu², Z L Ding³

Affiliations

¹ Department of Gastroenterology, Baoding Children's Hospital, Baoding Key Laboratory for Clinical Study on Respiratory and Digestive Diseases in Children, Baoding 071000, China.
² Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
³ Department of Pediatry, Beijing United Family Hospital, Beijing 100015, China.

PMID: 31665849
DOI: 10.3760/cma.j.issn.0578-1310.2019.11.018

Abstract

1例主诉为"皮肤发黄6个月余加重3 d"的患儿，综合其临床症状、实验室检查及肝脏病理结果，并完善基因测序示SPTB基因移码突变：c.1791delG，为新发突变。诊断为遗传性球形红细胞增多症。以胆汁淤积起病的遗传性球形红细胞增多症少见。.

Publication types

Case Reports

MeSH terms

Cholestasis, Intrahepatic / genetics*
Humans
Mutation
Spectrin / genetics*
Spherocytosis, Hereditary / genetics*

Substances

SPTB protein, human
Spectrin