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儿童期卟啉病

Porphyria in childhood.

作者信息

Jensen J D, Resnick S D

机构信息

Department of Dermatology, University of North Carolina at Chapel Hill 27514, USA.

出版信息

Semin Dermatol. 1995 Mar;14(1):33-9. doi: 10.1016/s1085-5629(05)80037-9.

Abstract

Porphyria in childhood is an uncommon problem but the recognition of these disorders is vitally important for affected children. Of the cutaneous porphyrias, erythropoietic protoporphyria, congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and the hereditary form of porphyria cutanea tarda (PCT) can present in infancy or childhood. This article focuses on the porphyrias that present in infants and children along with a brief discussion of pathogenesis, cutaneous histopathology, and genetics of these metabolic disorders.

摘要

儿童期卟啉病是一个不常见的问题,但认识这些疾病对患病儿童至关重要。在皮肤卟啉病中,红细胞生成性原卟啉病、先天性红细胞生成性卟啉病、肝红细胞生成性卟啉病以及迟发性皮肤卟啉病(PCT)的遗传形式可在婴儿期或儿童期出现。本文重点关注婴儿和儿童期出现的卟啉病,并简要讨论这些代谢性疾病的发病机制、皮肤组织病理学和遗传学。

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