Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin–Johnson syndrome in a Chinese gril: A case report  

作　　者：Yuan Li Yang Li Yang Yang Wen-Rui Yang Jian-Ping Li Guang-Xin Peng Lin Song Hui-Hui Fan Lei Ye You-Zhen Xiong Zhi-Jie Wu Kang Zhou Xin Zhao Li-Ping Jing Feng-Kui Zhang Li Zhang 

机构地区：[1]Anemia Therapeutic Center, Institute of Hematology and Blood Diseases Hospital,CAMS and PUMC

出　　处：《World Journal of Clinical Cases》2019年第20期3303-3309,共7页世界临床病例杂志

基　　金：Supported by the National Science and Technology Important and Special Project of China,No.2017ZX09304024

摘　　要：BACKGROUND Hereditary spherocytosis(HS)is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects.Dubin–Johnson syndrome(DJS),which commonly results in jaundice,is a benign hereditary disorder of bilirubin clearance that occurs only rarely.The co-occurrence of HS and DJS is extremely rare.We recently diagnosed and treated a case of co-occurring HS and DJS.CASE SUMMARY A 21-year-old female patient presented to our department because of severe jaundice,severe splenomegaly,and mild anemia since birth.We eventually confirmed the diagnosis of co-occurring DJS and HS by next generation sequencing(NGS).The treatment of ursodeoxycholic acid in combination with phenobarbital successfully increased hemoglobin and reduced total bilirubin and direct bilirubin.CONCLUSION The routine application of NGS can efficiently render a definite diagnosis when inherited disorders are suspected.BACKGROUND Hereditary spherocytosis(HS) is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects. Dubin–Johnson syndrome(DJS),which commonly results in jaundice, is a benign hereditary disorder of bilirubin clearance that occurs only rarely. The co-occurrence of HS and DJS is extremely rare. We recently diagnosed and treated a case of co-occurring HS and DJS.CASE SUMMARY A 21-year-old female patient presented to our department because of severe jaundice, severe splenomegaly, and mild anemia since birth. We eventually confirmed the diagnosis of co-occurring DJS and HS by next generation sequencing(NGS). The treatment of ursodeoxycholic acid in combination with phenobarbital successfully increased hemoglobin and reduced total bilirubin and direct bilirubin.CONCLUSION The routine application of NGS can efficiently render a definite diagnosis when inherited disorders are suspected.

关 键 词：Hereditary SPHEROCYTOSIS Dubin–Johnson SYNDROME HEMOLYTIC anemia JAUNDICE Next generation sequencing ABCC2 SPTB Case report 

分 类 号：R73[医药卫生—肿瘤]