Author/Editor		Marko, Pij B.
Title		Bolniki z eritropoetično protoporfirijo v Sloveniji
Type		monografija
Place		Ljubljana
Publisher		Medicinska fakulteta
Publication year		2008
Volume		str. 40
Language		slo
Abstract		Background. Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis that results from a partial deficiency of the enzyme ferrochelatase (FECH), which causes lifelong photosensitivity. Only incompleteepidemiological data on prevalence of EPP in a given population exist. Objectives. The investigation in order to detect the Slovenian EPP patients was carried out. Patients and methods. The patients were detected by clinical investigation of photosensitive patients and by studying hospital records. Quantitative spectrophotometric method was used for protoporphyrin assessment. Results. 32 EPP patients were detected, which allows us to estimate the prevalence of EPP in Slovenia at 1,6:100 000 inhabitants.
Summary		Uvod. Eritropoetična protoporfirija (EPP) je motnja presnove porfirinov, katere vzrok je prirojena delna pomanjkljivost encima ferokelataze (FECH), ki povzroča doživljenjsko preobčutljivost na UV svetlobo. V strokovni literaturi dostopni epidemiološki podatki o prevalenci EPP se pri različnih populacijah močno razlikujejo, pogosto so pomanjkljivi. Namen raziskave. Pridobiti podatke o bolnikih z EPP v slovenski populaciji. Bolniki in metode. Podatke o bolnikih z EPP v Sloveniji smo pridobili s klinično preiskavo bolnikov s preobčutljivostjo na UV svetlobo in s proučitvijo obstoječe bolnišnične dokumentacije bolnikov z EPP. Za potreditev diagnoze EPP smo uporabili kvantitativno spektrofotometrično metodo za določanje protoporfirina (PP) v eritrocitih. Rezultati. Odkrili smo 32 bolnikov z EPP, kar nam je omogočilo oceno prevalence EPP v Sloveniji, ki znaša 1,6:100 000 prebivalcev.
Descriptors		PHOTOSENSITIVITY DISORDERS SPECTROPHOTOMETRY PREVALENCE