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一名慢性血液透析患者的迟发性皮肤卟啉症

Porphyria cutanea tarda in a chronic hemodialysis patient.

作者信息

Labidi Jannet

机构信息

Department of Internal Medicine, Hospital Militaire Principal d'instruction, Tunis, Tunisia.

出版信息

Saudi J Kidney Dis Transpl. 2010 Sep;21(5):919-22.

Abstract

End-stage renal failure and long-term hemodialysis (HD) treatment promote the development of genetically conditioned porphyria cutanea tarda (PCT). Iron overload is often associated with this disease and is thought to play a role in its pathogenesis. We report a case of HD-related PCT, which improved with deferoxamine treatment. A 33-year-old woman, with end-stage renal failure on HD since 1998, presented with a history of blisters on the face and dorsum of the hands, of several months duration. Laboratory analysis showed: hemoglobin 10.4 g/dL; a moderate hepatic cytolysis; ferritin 1300 μg/L (Nl: 8-120 μg/L) and negative serology for HIV, HBV and HCV. Porphyrin analyses showed a PCT pattern. Skin biopsy findings and direct immunofluorescence were consistent with PCT. The patient received deferoxamine (40 mg/kg intravenously every week for 6 weeks) which led to dramatic improvement of the symptoms. Several treatments are proposed in the management of dialysis-related PCT. This case confirms that deferoxamine can induce rapid and prolonged remission.

摘要

终末期肾衰竭和长期血液透析(HD)治疗会促进遗传性迟发性皮肤卟啉病(PCT)的发展。铁过载常与该病相关,被认为在其发病机制中起作用。我们报告一例与血液透析相关的PCT病例,该病例经去铁胺治疗后病情改善。一名33岁女性,自1998年起因终末期肾衰竭接受血液透析,出现面部和手背水疱病史,持续数月。实验室分析显示:血红蛋白10.4 g/dL;中度肝细胞溶解;铁蛋白1300 μg/L(正常范围:8 - 120 μg/L),HIV、HBV和HCV血清学检查均为阴性。卟啉分析显示为PCT模式。皮肤活检结果和直接免疫荧光检查与PCT一致。患者接受去铁胺治疗(每周静脉注射40 mg/kg,共6周),症状显著改善。在透析相关PCT的管理中提出了几种治疗方法。该病例证实去铁胺可诱导快速且持久的缓解。

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