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杜宾-约翰逊综合征:一例报告

Dubin-Johnson Syndrome: A Case Report.

作者信息

Siddiqui Abdul Hannan, Alsabe Muhammad R, Tehseen Zuha, Hatamleh Modather I, Taslim Sanzida, Abdelrahman Ameer, Saleem Faraz

机构信息

Internal Medicine, University Hospital Derby and Burton, Derby, GBR.

Medicine, Ross University School of Medicine, Queens, USA.

出版信息

Cureus. 2023 Mar 14;15(3):e36115. doi: 10.7759/cureus.36115. eCollection 2023 Mar.

Abstract

Dubin-Johnson syndrome (DJS) is a rare autosomal recessive genetic disease caused by mutations in the bilirubin transporter MRP2. It is characterized by recurrent episodes of jaundice and conjugated hyperbilirubinemia. Numerous instances of hyperbilirubinemia disorders resembling Dubin-Johnson syndrome have been documented, but they differ in the clinical presentation, amount of conjugated bilirubin present, and their reaction to therapy. Most people with this syndrome do not have any symptoms, so their cases are often misdiagnosed and not properly taken care of. Here, we present a case of a teenage male patient who complained of recurring jaundice and abdominal pain. Further examination and testing revealed that the patient had been jaundiced since birth and had a family history of the condition. Conservative management was implemented, and follow-up demonstrated a positive prognosis. This case is a rare example of Dubin-Johnson syndrome, although patients with the condition generally have a normal life expectancy and only require conservative management.

摘要

杜宾-约翰逊综合征(DJS)是一种由胆红素转运体MRP2突变引起的罕见常染色体隐性遗传病。其特征为黄疸反复发作和结合胆红素血症。已记录了许多类似杜宾-约翰逊综合征的高胆红素血症疾病实例,但它们在临床表现、结合胆红素含量以及对治疗的反应方面存在差异。大多数患有该综合征的人没有任何症状,因此他们的病例常常被误诊且未得到妥善治疗。在此,我们报告一例青少年男性患者,该患者主诉黄疸和腹痛反复发作。进一步检查和检测发现,该患者自出生起就患有黄疸,且有该病的家族病史。实施了保守治疗,随访显示预后良好。尽管患有该疾病的患者通常预期寿命正常且仅需保守治疗,但此病例是杜宾-约翰逊综合征的罕见实例。

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