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诊断和治疗一名 16 岁中国患者的遗传性血色素沉着症和吉尔伯特综合征合并症。

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

出版信息

Eur J Med Res. 2014 Sep 28;19(1):51. doi: 10.1186/s40001-014-0051-y.

Abstract

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.

摘要

吉尔伯特综合征和遗传性血色素沉着症主要影响白种人,亚洲人发病率较低。本文报道了 1 例 16 岁的中国男孩,因肝区疼痛、黄疸、皮肤色素沉着和脾大就诊于我院。在排除慢性肝炎、自身免疫性疾病以及酒精或药物损伤后,对患者及其父母进行基因分析显示同时存在吉尔伯特综合征和遗传性血色素沉着症,尽管其父母未出现相关症状。本病例提示,在无明确病因的慢性肝炎患者中,应考虑诊断为吉尔伯特综合征和遗传性血色素沉着症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49b3/4189628/141ed332f592/40001_2014_51_Fig1_HTML.jpg

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