Photosensitivity and acute liver insufficiency in late-onset erythropoietic protoporphyria with a chromosome 18q abnormality.
Photosensitivity and acute liver insufficiency in late-onset erythropoietic protoporphyria with a chromosome 18q abnormality.
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DOI：
10.1159/000341111
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发表时间：
2012-05
影响因子：
0.9
通讯作者：
Ihn H
中科院分区：
文献类型：
--
作者：
Oshikawa Y;Fukushima S;Miyake T;Kawaguchi T;Motomura K;Nakashima Y;Nakamura K;Jinnin M;Ihn H
迟发性红细胞生成性原卟啉症（EPP）是一种罕见的疾病，它通常与继发于骨髓增生异常综合征或骨髓增生性疾病等恶性血液病的铁螯合酶基因的获得性体细胞突变有关。在0.5-1%的EPP患者中，原卟啉在肝脏中的沉积导致进行性肝功能不全。在此，我们报告了一名67岁女性患EPP并伴有典型光敏性和溶血性贫血的病例。6个月后，她因急性肝损伤入院，病程进展迅速，并出现肝功能不全。她在接受血浆置换和红细胞交换输血后从肝功能不全中恢复。骨髓检查显示正常特征;然而，细胞遗传学分析确定了染色体13 q12和18q21.1之间易位的异常细胞克隆。这是第一个报告的病人谁从肝功能不全恢复。本报告的结果表明，血浆置换和红细胞交换输血是有效的治疗晚发性EPP患者的肝功能不全。
Late-onset erythropoietic protoporphyria (EPP) is rare, and it is usually associated with an acquired somatic mutation of the ferrochelatase gene secondary to hematological malignancy such as myelodysplastic syndrome or myeloproliferative disorder. In 0.5–1% of patients with EPP, deposition of protoporphyrin in the liver leads to progressive liver insufficiency. Herein, we report the case of a 67-year-old female who developed EPP with typical photosensitivity and hemolytic anemia. Six months later, she was admitted with acute liver damage with a rapidly progressing course, and developed liver insufficiency. She recovered from the liver insufficiency after undergoing plasmapheresis and red blood cell exchange transfusion. A bone marrow examination revealed normal features; however, a cytogenetic analysis identified an abnormal clone of cells with a translocation between chromosomes 13q12 and 18q21.1. This is the first report of a patient who recovered from liver insufficiency. The results of this report suggest that plasmapheresis and red blood cell exchange transfusion are effective for treating liver insufficiency in patients with late-onset EPP.