Author/Editor		Kansky, Aleksej; Marko, Pij Bogomir; Miljković, Jovan; Žižek, Teofil; Boštjančič, Emanuela; Glavač, Damjan
Title		Eritropoetska protoporfirija: primeri v Sloveniji
Translated title		Erythropoietic protoporphyria: cases in Slovenia
Type		članek
Source		In: Miljković J, editor. Strokovno srečanje z mednarodno udeležbo 3. dermatološki dnevi; 2005 nov 11-12; Maribor. Maribor: Splošna bolnišnica Maribor,
Publication year		2005
Volume		str. 16-21
Language		slo
Abstract		Background. Erythropoietic protoporophyria is a photodermatosis due to an accumulation of protoporphyrin (PP) in the red blood cells, caused by partial deficiency of the enzyme ferrochelatase (FECH) responsible for the incorporation of the ferrous ion into PP. The increased amount of PP in erythrocytes, blood serum and partially in the skin triggers severs photosensitivity reactions. Patients and methods. Efforts were made to include all EPP patients from Slovenia. The diagnosis was made on patients' history and clinical symptoms, while it was confirmed by the spectrophotometric assay of PP in erythrocytes. Genomic DNA was extracted from leukocytes of 51 examinated persons (24 patients and their relatives). The eleven exons of FECH were investigated by up-to date molecular techniques. Results. 33 manifest EPP patients were detected in Slovenia, six of them have already died. The PP values ranged from 550 to 46286 nmol/liter. A problem pose the unclear cases displaying increased PP values without photosensitivity; while some were photosensitive without elevated PP in erythrocytes. The prevalence of EPP in the Slovenian population, taking only the manifest cases, was calculated at 1.6 per 100, 000 inhabitants. Following mutations were detected: three C > G in exons 1-2, four A > G in exons 3-4 and 9, as well as one CT deletion in exons 3-4. Conclusion. A simultaneous study of clinical, biochemical and molecular biologic data is necessary for detection of latent cases of this disorder. Up to now no relationship between the Slovenian EPP families could be confirmed.
Descriptors		PORPHYRIA, ERYTHROPOIETIC PROTOPORPHYRINS FERROCHELATASE POLYMERASE CHAIN REACTION BASE SEQUENCE