Open AccessHereditary Spherocytosis Associated with Gilbert Syndrome Diagnosed with Liver Biopsy Examination and Exome Sequencing
Author(s) -
Wei Zou,
Zhendong Zhang,
Yongming Tan,
Lunli Zhang
Publication year - 2020
Publication title -
jcpsp
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.229
H-Index - 33
eISSN - 1681-7168
pISSN - 1022-386X
DOI - 10.29271/jcpsp.2020.02.213
Subject(s) - hereditary spherocytosis , exome sequencing , spherocytosis , medicine , liver biopsy , exome , pathology , biopsy , genetics , mutation , biology , gene , splenectomy , spleen
Depending on which part of the physiological pathway is affected by the pathology, jaundice is classified into three categories: pre-hepatic/hemolytic, hepatic/hepatocellular, and post-hepatic/cholestatic. With routine laboratory tests, most cases of jaundice can be etiologically diagnosed. However, exceptions do occur. Here, we present a case of a 14-year girl who presented with intermittent jaundice for one year that could not be diagnosed with a routine protocol. Her laboratory tests showed a moderate impairment of liver function and a positive osmotic fragility test. Computed tomography scan of her upper abdomen revealed multiple gallbladder stones and splenomegaly. With the help of liver pathological examination and exome sequencing, this patient was finally diagnosed as hereditary spherocytosis combined with Gilbert syndrome.