卟啉病
The porphyrias.
作者信息
Sekula S A, Tschen J A, Rosen T
出版信息
Am Fam Physician. 1986 Mar;33(3):219-32.
PMID:3513498
Abstract
The porphyrias are caused by hereditary defects in the synthesis of heme. Each porphyria is characterized by a unique enzyme defect and measurable elevations of specific heme precursors. While qualitatively normal, these precursors accumulate to cause protean signs and symptoms. Photosensitivity should raise the suspicion of a porphyria, especially in a child or a young adult. The skin, teeth and eyes may provide clues to the diagnosis in some cases.
摘要
卟啉病由血红素合成中的遗传性缺陷引起。每种卟啉病的特征是独特的酶缺陷以及特定血红素前体的可测量升高。虽然这些前体在质量上是正常的，但它们会积累并导致多种多样的体征和症状。光敏性应引起对卟啉病的怀疑，尤其是在儿童或年轻人中。在某些情况下，皮肤、牙齿和眼睛可能为诊断提供线索。
相似文献
1
The porphyrias.卟啉病
Am Fam Physician. 1986 Mar;33(3):219-32.
2
The hepatic porphyrias.肝性卟啉病
Prog Med Genet. 1980;4:169-97.
3
Clinical Guide and Update on Porphyrias.临床指南和卟啉病更新。
Gastroenterology. 2019 Aug;157(2):365-381.e4. doi: 10.1053/j.gastro.2019.04.050. Epub 2019 May 11.
4
[Nephrologists and porphyrias].[肾病学家与卟啉病]
G Ital Nefrol. 2002 Jul-Aug;19(4):393-412.
5
Five cases of porphyria cutanea tarda with mild cutaneous changes: evaluation of the efficacy of phlebotomy by the pattern analysis of urinary porphyrins.5例皮肤改变轻微的迟发性皮肤卟啉病：通过尿卟啉模式分析评估放血疗法的疗效
J Dermatol. 1986 Jun;13(3):196-202. doi: 10.1111/j.1346-8138.1986.tb02926.x.
6
[Hemin treatment in a case of porphyria variegata].[一例杂色卟啉病的高铁血红素治疗]
Dermatologica. 1982;165(6):640-6.
7
Porphyria cutanea tarda. Diagnosis, management, and differentiation from other hepatic porphyrias.迟发性皮肤卟啉病。诊断、管理及与其他肝性卟啉病的鉴别。
Dermatol Clin. 1986 Apr;4(2):297-309.
8
The cutaneous porphyrias.皮肤型卟啉病
Semin Dermatol. 1990 Mar;9(1):63-9.
9
[Acute intermittent porphyria. Detection of asymptomatic carriers of the genetic defect].
Nouv Presse Med. 1975 Jun 14;4(24):1801-2.
10
[Quantitative liver function tests in porphyria cutanea tarda: improvement under therapeutic phlebotomy].
Schweiz Med Wochenschr. 1986 Mar 15;116(11):341-5.
Zotero 插件