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长期血液透析患者迟发性皮肤型卟啉病的延迟发作。病例报告。

Delayed onset of overt porphyria cutanea tarda in a patient on long-term haemodialysis. A case report.

作者信息

King J, Day R S, Milne F J, Bezwoda W R, Viljoen J D, Kramer S

出版信息

S Afr Med J. 1983 May 7;63(19):743-6.

PMID:6845091
Abstract

After 7 years on haemodialysis, a 37-year-old anephric man developed cutaneous lesions of the hands, arms and face, shown by skin biopsy to be compatible with porphyria cutanea tarda (PCT) (symptomatic porphyria). Elevated levels of plasma uroporphyrin and 7-COOH porphyrin were detected alongside a predominant isocoproporphyrin fraction in the faeces by means of quantitative thin-layer chromatography, confirming the diagnosis of overt PCT. The plasma uroporphyrin did not pass into the dialysate, even after chloroquine therapy. There was no evidence of hereditary PCT, chronic liver disease or iron overload, although the patient had a history of excessive alcohol consumption. The overt PCT developed after 8 months of home dialysis using softened water with high aluminium concentrations and subsided clinically and biochemically when the softened water was replaced by deionized water.

摘要

一名37岁的无肾男性在接受血液透析7年后,手部、手臂和面部出现皮肤病变,皮肤活检显示与迟发性皮肤卟啉病(PCT)(症状性卟啉病)相符。通过定量薄层色谱法检测到血浆尿卟啉和7-羧基卟啉水平升高,同时粪便中以异粪卟啉为主,证实了显性PCT的诊断。即使在氯喹治疗后,血浆尿卟啉也未进入透析液。虽然该患者有过量饮酒史,但没有遗传性PCT、慢性肝病或铁过载的证据。显性PCT在使用高铝浓度的软化水进行家庭透析8个月后出现,当软化水被去离子水取代后,临床和生化指标均有所缓解。

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