卟啉症的诊断和治疗策略。

4区医学 Q3 Medicine Netherlands Journal of Medicine Pub Date : 2020-07-01

R A Neeleman, D Wensink, M A E M Wagenmakers, G S Mijnhout, E C H Friesema, J G Langendonk

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引用次数: 0

摘要

卟啉症是一种罕见的代谢紊乱。缺乏对卟啉症临床特征的认识和知识导致许多患者诊断和治疗延误。诊断和治疗卟啉症的延误可能导致严重的进行性发病率(和死亡率)和患者的心理困扰。本文综述了最常见的卟啉症的病理生理、诊断、治疗和随访:急性间歇性卟啉症、皮肤迟发性卟啉症和红细胞原性卟啉症。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Diagnostic and therapeutic strategies for porphyrias.

Porphyrias are rare metabolic disorders. Lack of awareness and knowledge about the clinical features of porphyrias results in diagnostic and therapeutic delays for many patients. Delays in diagnosing and treating porphyrias can result in severe, progressive morbidity (and mortality) and psychological distress for patients. This review discusses the pathophysiology, diagnosis, treatment, and follow-up of the most prevalent porphyrias: acute intermittent porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria.

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来源期刊

Netherlands Journal of Medicine 医学-医学：内科

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： The Netherlands Journal of Medicine publishes papers in all relevant fields of internal medicine. In addition to reports of original clinical and experimental studies, reviews on topics of interest or importance, case reports, book reviews and letters to the editor are welcomed.