• J Coll Physicians Surg Pak · Feb 2020

    Case Reports

    Hereditary Spherocytosis Associated with Gilbert Syndrome Diagnosed with Liver Biopsy Examination and Exome Sequencing.

    • Wei Zou, Zhendong Zhang, Yongming Tan, and Lunli Zhang.
    • Department of Infectious Diseases, The First Affiliated Hospital of Nanchang University, Jiangxi, China.
    • J Coll Physicians Surg Pak. 2020 Feb 1; 30 (2): 213-215.

    AbstractDepending 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.

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