Suppr超能文献

[儿童遗传性卟啉病和获得性卟啉病。五例报告]

[Hereditary porphyria and acquired porphyria in the child. Five case reports].

作者信息

Aquaron R

机构信息

Laboratoire de biochimie, faculté de médecine et Laboratoire de biologie, hôpital d'enfants, Marseille, France.

出版信息

Pediatrie. 1992;47(11):761-6.

PMID:1364152
Abstract

Two cases of inherited porphyrinopathies and three cases of acquired porphyrinopathies are described. The two inherited cases were cutaneous porphyrias with 50% reduction of enzyme activities: one case of erythropoietic protoporphyria in a 2 year-old male and one case of familial cutaneous porphyria in a 7 year-old boy. The three cases of acquired porphyrinopathy included one case of lead poisoning in a 3 year-old boy and 2 cases of hereditary tyrosinemia in 1 and 2 year-old infants. Urinary and erythrocytes porphyrins and precursors (5 aminolevulinic acid and porphobilinogen) levels were used for diagnosis and to follow the response to treatment.

摘要

本文描述了2例遗传性卟啉病和3例获得性卟啉病。2例遗传性病例为皮肤卟啉病,酶活性降低50%:1例为2岁男性的红细胞生成性原卟啉病,1例为7岁男孩的家族性皮肤卟啉病。3例获得性卟啉病包括1例3岁男孩的铅中毒和2例1岁及2岁婴儿的遗传性酪氨酸血症。尿和红细胞中的卟啉及前体(5-氨基酮戊酸和卟胆原)水平用于诊断及监测治疗反应。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验