成年女性光敏性黄疸1例。

IF 0.5 Q4 GASTROENTEROLOGY & HEPATOLOGY
ACG Case Reports Journal Pub Date : 2025-08-04 eCollection Date: 2025-08-01 DOI:10.14309/crj.0000000000001797
Orlando Emmanuel Falcón-Antonio, David Aguirre-Villarreal, Froylan David Martínez-Sánchez, Ignacio García-Juárez
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引用次数: 0

摘要

这是一个21岁的长期光敏性女性的病例,她发展为进行性黄疸和肝功能障碍。最初的检查排除了常见的肝胆和自身免疫性原因。皮肤和肝脏活检显示特征性组织学特征,包括肝小管内透明样真皮沉积和双折射色素。红细胞原卟啉水平升高和基因检测证实红细胞原卟啉伴肝脏受累。尽管有支持治疗,她还是需要肝移植,后来死于感染并发症。该病例强调了考虑伴有皮肤和肝脏合并表现的卟啉症患者的重要性,并强调了临床病理相关性的诊断价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Jaundice in an Adult Female Patient With Photosensitivity.

Jaundice in an Adult Female Patient With Photosensitivity.

This was the case of a 21-year-old woman with longstanding photosensitivity who developed progressive jaundice and liver dysfunction. The initial workup excluded common hepatobiliary and autoimmune causes. Skin and liver biopsies revealed characteristic histological features, including hyaline dermal deposits and birefringent pigments in the hepatic canaliculi. Elevated erythrocyte protoporphyrin levels and genetic testing confirmed erythropoietic protoporphyria with hepatic involvement. Despite supportive care, she required liver transplantation and later died of infectious complications. This case underscores the importance of considering porphyria in patients with combined cutaneous and hepatic manifestations and highlights the diagnostic value of clinicopathological correlations.

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来源期刊
ACG Case Reports Journal
ACG Case Reports Journal GASTROENTEROLOGY & HEPATOLOGY-
自引率
14.30%
发文量
170
审稿时长
12 weeks
期刊介绍: ACG Case Reports Journal is a peer-reviewed, open-access publication that provides GI and hepatology fellows, private practice clinicians, and other healthcare providers an opportunity to share interesting case reports with their peers and with leaders in the field. ACG Case Reports Journal publishes case reports, images, videos and letters to the editor in all topics of gastroenterology and hepatology, including: Biliary Colon Endoscopy Esophagus Functional Bowel Disorders Inflammatory Bowel Disease Liver Nutrition and Obesity Pancreas Pathology Pediatric Small Bowel Stomach.
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