Zou Wei, Zhang Zhendong, Tan Yongming, Zhang Lunli
Department of Infectious Diseases, The First Affiliated Hospital of Nanchang University, Jiangxi, China.
Department of Pathology, The First Affiliated Hospital of Nanchang University, Jiangxi, China.
J Coll Physicians Surg Pak. 2020 Feb;30(2):213-215. doi: 10.29271/jcpsp.2020.02.213.
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.
根据病理改变所影响的生理途径的不同部位，黄疸可分为三类：肝前性/溶血性、肝性/肝细胞性和肝后性/胆汁淤积性。通过常规实验室检查，大多数黄疸病例可做出病因诊断。然而，也确实存在例外情况。在此，我们报告一例14岁女孩，她间歇性黄疸一年，采用常规方案无法确诊。她的实验室检查显示肝功能有中度损害，渗透脆性试验呈阳性。上腹部计算机断层扫描显示多发胆囊结石和脾肿大。借助肝脏病理检查和外显子组测序，该患者最终被诊断为遗传性球形红细胞增多症合并吉尔伯特综合征。
