[A case of erythropoietic protoporphyria with severe liver dysfunction].
[A case of erythropoietic protoporphyria with severe liver dysfunction].
复制标题
红细胞生成性原卟啉症伴严重肝功能障碍1例[J].
DOI：
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发表时间：
2011
期刊：
影响因子：
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通讯作者：
T. Chiba
中科院分区：
文献类型：
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作者：
Kousuke Minaga;T. Kayahara;Y. Ueda;K. Ono;T. Seta;Shunji Urai;Y. Uenoyama;Y. Yamashita;T. Chiba
一名27岁男性因肝功能障碍伴黄疸、肝脾肿大入院评估和治疗。患者从小就有严重的光过敏症。上消化道内镜检查显示食管轻度静脉曲张。临床表现、尿液和血液卟啉分析以及皮肤活检使我们诊断为红细胞生成性原卟啉症。由于肝功能急剧恶化，进行了活体肝移植。切除的肝脏显示出肝硬化。我们报告了一例罕见的红细胞生成性原卟啉症伴严重肝功能障碍的病例，并对文献进行了回顾。
A 27-year-old man was admitted to our hospital for evaluation and treatment of liver dysfunction with jaundice and hepatosplenomegaly. The patient had severe photosensitivity from childhood. Upper gastrointestinal endoscopy revealed mild esophageal varices. The clinical manifestations, analyses of the urine and blood for porphyrins and skin biopsy led us to a diagnosis of erythropoietic protoporphyria. Because of acute deterioration of liver function, living donor liver transplantation was performed. The resected liver revealed cirrhosis. We report a rare case of erythropoietic protoporphyria with severe liver dysfunction and present a review of the literature.