成人型戈谢病伴慢性乙型病毒性肝炎、肝硬化和原发性 肝癌1例报道

doi:10.19871/j.cnki.xfcrbzz.2022.04.017

摘要/Abstract

摘要： 患者男性,59岁,反复腹胀10余年。查体：神志清楚,全身皮肤、黏膜轻度黄染,肝肋下未触及,脾剑突下及肋下可触及约20cm,移动性浊音阳性,双下肢皮肤色素沉着。实验室检查：白细胞计数1.75×10⁹/L,红细胞计数2.92×10¹²/L,血红蛋白97.00g/L,血小板计数22.00×10⁹/L;甲胎蛋白近9个月内由2.2μg/L上升到82.25μg/L,甲胎蛋白异质体3.0μg/L。乙型病毒性肝炎表面抗原和乙型病毒性肝炎e抗原阳性。上腹部CT及MRI检查示慢性乙型病毒性肝炎肝硬化、脾肿大、腹水、原发性肝癌和多发脾动脉瘤等。基因检测结果：GBA基因检测到染色体位置1q22纯和的可疑致病性变异,位置Exonll,cDNA水平：c.1448T>A,蛋白水平P.（Leu483Gln）,与其一亲妹妹（确诊GD患者）基因检测一致。确诊为成人型戈谢病。

关键词: 戈谢病, 慢性乙型病毒性肝炎, 肝硬化, 脾肿大, 原发性肝癌, 诊断

Abstract: A male patient of 59 year old presented with recurrent abdominal distension for more than 10 years. Physical examination: clear mind, slight yellowing of skin and mucous membrane, no touch under the liver costal, spleen subcostal reached about 20cm, positive mobile turbidity, skin pigmentation of both lower limbs. Laboratory examination: WBC 1.75×10⁹/L, RBC 2.92×10¹²/L, HGB 97.00g/L, PLT 22.00×10⁹/L; AFP increased from 2.2μg/L to 82.25μg/L in recent 9 months, and AFP-L3 3.0μg/L. Hepatitis B surface antigen and hepatitis B e antigen were positive. CT and MRI of abdomen showed chronic hepatitis B cirrhosis, splenomegaly, ascites, primary liver cancer and multiple splenic aneurysms. Gene detection: GBA gene detected suspected pathogenic variation of chromosome position 1q22, Exonll, cDNA level: c.1448T>A, protein level: P (Leu483Gln), which is consistent with the gene detection of his sister (confirmed GD patient). The patient was diagnosed as adult Gaucher disease.

Key words: Gaucher disease, Chronic viral hepatitis B, Liver cirrhosis, Splenomegaly, Primary liver cancer, Diagnosis

黄志华, 周美云, 雷凤. 成人型戈谢病伴慢性乙型病毒性肝炎、肝硬化和原发性肝癌1例报道[J]. 新发传染病电子杂志, 2022, 7(4): 74-77.

Huang Zhihua, Zhou Meiyun, Lei Feng. Adult Gaucher disease with chronic viral hepatitis B, liver cirrhosis and primary liver cancer：a case report[J]. Electronic Journal of Emerging Infectious Diseases, 2022, 7(4): 74-77.

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