Diagnosis and treatment of a 16-year-old Chinese patient with concurrent hereditary hemochromatosis and Gilbert's syndrome

作者：Wang, Xianbo^*; Liu, Yanmin; Chang, Yujuan; Liu, Huimin; Wang, Peng

来源：European Journal of Medical Research, 2014, 19(1): 51.

DOI：10.1186/s40001-014-0051-y

• Hereditary hemochromatosis
• Gilbert's syndrome
• Liver biopsy
• Mutation

Gilbert's syndrome and hereditary hemochromatosis predominantly affect Caucasians with a low incidence in Asians. Here we report the case of a 16-year-old Chinese boy, who was admitted with hepatalgia, jaundice, hyperpigmentation, and splenomegaly to our hospital. After excluding chronic hepatitis, autoimmune disorders, and alcohol or drug injury, genetic analyses of the patient and his parents revealed simultaneous manifestations of Gilbert's syndrome and hereditary hemochromatosis, though his parents did not develop related symptoms. The presented case indicates that diagnoses of Gilbert's syndrome and hereditary hemochromatosis should be taken into consideration when chronic hepatitis is suspected without a clear etiology.

• 出版日期2014-9-28
• 单位北京地坛医院; 首都医科大学