进行性家族性肝内胆汁淤积3型的综合综述及瘙痒作为诊断线索的重要性。

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

BMJ Case Reports Pub Date : 2025-09-30 DOI:10.1136/bcr-2025-265416

Catarina Nunes, Luísa Ribeiro, Maria Torre, Cristina Gonçalves

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引用次数: 0

摘要

本病例报告一例罕见的进行性家族性肝内胆汁淤积3型。瘙痒是主要症状，导致这种情况的诊断在其他健康的青少年。症状可以发生在任何年龄，由于缺乏严重症状，诊断可能会延迟。基因检测证实了诊断。建议用熊去氧胆酸治疗，其他抗瘙痒药物可作为辅助。应监测疾病进展。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Comprehensive overview of progressive familial intrahepatic cholestasis type 3 and the importance of pruritus as a diagnostic clue.

This case report illustrates a rare case of progressive familial intrahepatic cholestasis type 3. Pruritus was the predominant symptom that led to the diagnosis of this condition in an otherwise healthy adolescent. The onset of symptoms can happen at any age, and the diagnosis may be delayed due to a lack of severe symptoms. Genetic testing confirms the diagnosis. Therapy with ursodeoxycholic acid is recommended, and other anti-pruritic medications can be adjuvant. Disease progression should be monitored.

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来源期刊

BMJ Case Reports Medicine-Medicine (all)

CiteScore

1.40

自引率

0.00%

发文量

1588

期刊介绍： BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.