Author/Editor		Marko, Pij Bogomir; Kansky, Aleksej; Glavač, Damjan; Miljković, Jovan; Gorenjak, Maksimiljan; Krajnc, Ivan
Title		Eritropoetična protoporfirija pri prebivalcih severovzhodne Slovenije
Type		članek
Source		In: Miljković J, editor. 2. dermatološki dnevi. Zbornik predavanj Strokovno izpopolnjevanje iz dermatologije z mednarodno udeležbo; 2004 nov 5-7; Maribor. Maribor: Splošna bolnišnica Maribor,
Publication year		2004
Volume		str. 21-6
Language		slo
Abstract		Erythropoietic protoporphyria (EPP) is an inherited disorder of porphyrin metabolism in which the activity of ferrochelatase (FECH) is markedly decreased. This defect results in a high accumulation of protoporphyrin (PP) in erythrocytes and clinically by cutaneus photosensitivity. Until recently the inheritance of EPP has been generally accepted as avtosomal dominant with low clinical penetrance. Most EPP families harbour private FECH gene mutations. The purpose of this work was to find out the data of the EPP cases and their reladves in the population of north-eastern Slovenia. The patients were detected by routine examinations, later on their relatives were invited for investigation. The diagnosis was established by patients' histories, clinical symptoms and PP values in erythrocytes. In our study we detected 21 EPP patients: 19 mere manifest, while two were latent cases displaying slightly increased PP values in erythrocytes. The patients belonged to nine families, which included 50 unaffected members. Molecular studies in order to detect the casual genetic mutation in northeastern Slovenian patients mith EPP are in course.
Descriptors		PORPHYRIA, ERYTHROPOIETIC FERROCHELATASE SLOVENIA