红细胞生成性原卟啉引起黄疸型肝炎的诊治1例

Q2 Medicine Liver Research Pub Date : 2022-06-01 DOI:10.1016/j.livres.2022.05.003
Hanqing Huang , Leiqin Cai , Xinhua Li , Shuru Chen
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引用次数: 0

摘要

红细胞生成性原卟啉病(EPP)是一种罕见的遗传性疾病,由铁螯合酶(FECH)活性部分缺乏引起,导致原卟啉IX在红细胞和组织中过度积累。在此,我们报告了一名由EPP引起的光敏性皮炎和急性黄疸型肝炎患者,在使用葡萄糖负荷、熊去氧胆酸胶囊和消胆胺粉治疗2个月后,其临床和生化结果成功改善。该病例为EPP引起的肝和皮肤损伤患者的联合治疗策略提供了参考。
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Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report

Erythropoietic protoporphyria (EPP) is a rare inherited disease caused by partial deficiency activity of the enzyme ferrochelatase (FECH), resulting in excessive accumulation of protoporphyrin IX in erythrocyte and tissues. Here, we report a patient with photosensitive dermatitis and acute icteric hepatitis caused by EPP, whose clinical and biochemical results successfully improved following 2-month treatment with glucose load, ursodeoxycholic acid capsules, and cholestyramine powder. This case provides a reference for a combination therapy strategy for patients with liver and skin injury caused by EPP.

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来源期刊
Liver Research
Liver Research Medicine-Gastroenterology
CiteScore
5.90
自引率
0.00%
发文量
27
审稿时长
13 weeks
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