The Porphyrias.

Autor: Muschalek W; Department of Dermatology, Venereology and Allergology, University Hospital Göttingen, Göttingen, Germany., Hermasch MA; Department of Dermatology, Venereology and Allergology, University Hospital Göttingen, Göttingen, Germany., Poblete-Gutiérrez P; Dienst Dermatologie Ziekenhuis Oost-Limburg (ZOL) und Praktijk Huidziekten Genk, Genk, Belgium., Frank J; Department of Dermatology, Venereology and Allergology, University Hospital Göttingen, Göttingen, Germany.
Jazyk: angličtina
Zdroj: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG [J Dtsch Dermatol Ges] 2022 Mar; Vol. 20 (3), pp. 316-331.
DOI: 10.1111/ddg.14743
Abstrakt: The porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic disorders and cover in detail the most common form of porphyria worldwide (porphyria cutanea tarda), the most frequent childhood porphyria (erythropoietic protoporphyria), and the most common neurocutaneous porphyria (variegate porphyria).
(© 2022 The Authors. Journal der Deutschen Dermatologischen Gesellschaft published by John Wiley & Sons Ltd on behalf of Deutsche Dermatologische Gesellschaft.)
Databáze: MEDLINE
Externí odkaz: