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Clinical features of Dubin-Johnson syndrome
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摘要:
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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关键词:
- Dubin-Johnson综合征 /
- 黄疸 /
- 慢性特发性
Abstract:Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disease caused by deficiency of the canalicular multi-specific organic anionic transporter (CMOAT) protein.The consequent impairment of conjugated bilirubin secretion into the bile results in hyperbilirubinemia, 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 experience repeated visits to physicians during which they undergo a battery of unnecessary clinical testing.This situation may be further complicated 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 patients who tend to present to clinic during middle and old age which is the rare morbidity age can be easily misdiagnosed.As the disease can be easily ignored.In this review, we summarize the known information regarding DJS pathogenesis, clinical characteristics, and diagnostic methods in order to improve physicians' awareness of the disease.
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Key words:
- Dubin-Johnson syndrome /
- jundice /
- chronic idiopathic
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