Dubin-Johnson综合征的临床特点分析

Dubin-Johnson综合征（DJS）是一种少见的常染色体隐性遗传病,是由于毛细胆管上特异性有机阴离子转运蛋白基因缺陷,导致结合胆红素排泄障碍,血液中结合胆红素升高,黑色色素在肝细胞内沉着,大体表现为黑肝。该疾病预后良好,不需特殊治疗,但容易被误诊导致患者反复就诊治疗,承担不必要的精神和经济负担。近年来有报道本病可合并多种疾病,诊断较困难,从而对持续性黄疸难以解释,并且患者可在中老年时期就诊,而不是在青少年好发时期,容易遗漏该疾病导致误诊。本文对DJS的发病机制、临床特点及近年来的诊断方法等作一综述。...

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Bibliographic Details
Published in临床肝胆病杂志 Vol. 29; no. 4; pp. 319 - 320
Main Author 姬蒙 张金平 李建生
Format Journal Article
LanguageChinese
Published 郑州大学第一附属医院消化内科,郑州,450052 2013
Subjects
Dubin-Johnson综合征
慢性特发性
黄疸
Dubin-Johnson综合征
慢性特发性
黄疸
Online AccessGet full text
ISSN1001-5256

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Summary:Dubin-Johnson综合征（DJS）是一种少见的常染色体隐性遗传病,是由于毛细胆管上特异性有机阴离子转运蛋白基因缺陷,导致结合胆红素排泄障碍,血液中结合胆红素升高,黑色色素在肝细胞内沉着,大体表现为黑肝。该疾病预后良好,不需特殊治疗,但容易被误诊导致患者反复就诊治疗,承担不必要的精神和经济负担。近年来有报道本病可合并多种疾病,诊断较困难,从而对持续性黄疸难以解释,并且患者可在中老年时期就诊,而不是在青少年好发时期,容易遗漏该疾病导致误诊。本文对DJS的发病机制、临床特点及近年来的诊断方法等作一综述。
Bibliography:Jl Meng, ZHANG Jinping, LI Jiansheng. （ Department of Gastroenterology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China）
Dubin -Johnson syndrome （DJS） is a rare autosomal recessive disease caused by deficiency of the canalicular multi -specific or- ganic anionic transporter （CMOAT） protein. The consequent impairment of conjugated bilirubin secretion into the bile results in hyperbiliru- binemia, and the manifestation is black pigment depositing in liver cells under microscope and black liver from macroscopy. However, DJS appears to be a benign disease and no specific treatment has been developed. Misdiagnosis of DJS is common and patients frequently experi- ence repeated visits to physicians during which they undergo a battery of unnecessary clinical testing. This situation may be further complicat- ed by concomitant diseases, which are only recently being recognized and may be the primary etiology or a promoting factor for the patient＇ s prolonged jaundice. Moreover, the patient
ISSN:1001-5256