Avtor/Urednik		Pij, M; Dragoš, V
Naslov		Eritropoetična protoporfirija - prikaz primera
Prevedeni naslov		Erythropoietic protoporphyria - case report
Tip		članek
Vir		Slov Pediatr
Vol. in št.		Letnik 14, št. 1
Leto izdaje		2007
Obseg		str. 26-31
Jezik		slo
Abstrakt		Erythropoetic protoporphyria is a genetically deternuned disorder in porphyrin metabolism with light sensitivity. The production of the enzyme ferrochelatase is insufficient. Pathologically increased plasma protoporphyrin is responsible for the phototoxic skin reaction. A 4- year-old boy with a longstanding 3- year history of extreme burning and pruritic skin lesions on photoexposed skin is presented. He was examined and treated by an allergologist. Skin tests were performed several times and were positive to house dust mite. Treatment with antihistamines was ineffective. On our department we found high levels of protoporhyrins in erythrocytes (13,197 nmol/I, normal value up to 530 nmol/I), liver tests were normal. Avoidance of sunlight, protective clothing and topical sunscreens were introduced ui the treatment. Patients with pruritic and burning skin lesions should be examined by a dermatologist. In such cases allergy tests alone, even when positive, cannot explain the nature of the skin condition, so other diagnostic procedures should be performed.
Izvleček		Eritropoetična protoporfirija je motnja presnove porfirinov, ki jo povzroča prirojeno delno pomanjkanje encima ferokelataze, ki vgrajuje železo v molekule protoporfirina. Kopičenje protoporfirina v eritrocitih se klinično izraža s preobčutljivostjo na svetlobo. Avtorja prikazujeta primer 4-letnega dečka, ki je imel tri leta močno srbeče in pekoče spremembe na soncu izpostavljenih delih kože. Pred pregledom pri dermatologu je bil večkrat alergološko testiran, pri čemur so mu ugotovili senzibilizacijo na pršico v hišnem prahu. Zdravljenje z antihistaminiki ni bilo uspešno. Na otroškem oddelku Dermatovenerološke klinike smo ugotovili močno zvišane vrednosti protoporfirinov v eritrocitih (13.197 nmol/1, nornlalna vrednost do 530 nmol/1), jetrni testi pa so bili normalni. Bolniku smo svetovali izogibanje sončnim žarkom, priporočili redno uporabo zaščitne obleke in redno uporabo krem z visokim zaščitnim faktorjem proti UV žarkom. Bolnik s srbečimi kožnimi spremembami potrebuje usmerjeno dermatološko obravnavo. Pozitiven izvid alergoloških testov je lahko sočasen, neodvisen izvid, ki ne pojasni vedno etiologije kožne bolezni.
Deskriptorji		PROTOPORPHYRINS PORPHYRIA, ERYTHROPOIETIC CHILD, PRESCHOOL