Avtor/Urednik		Hojs, R; Hojs-Fabjan, T; Lobnik, A
Naslov		Hereditarna koproporfirija - prikaz primera in pregled literature
Prevedeni naslov		Hereditary coproporphyria - case report and review of the literature
Tip		članek
Vir		Zdrav Vestn
Vol. in št.		Letnik 64, št. 7-8
Leto izdaje		1995
Obseg		str. 409-12
Jezik		slo
Abstrakt		Porphyrias are disorders associated with inherited or acquired disturbances in heme synthesis. Clinical manifestations of hepatic porphyrias are attacks of nervous system dysfunction and/or skin sensitivity. Nervous system dysfunction results in abdominal pain and peripheral neuropathies. In differential diagnosis all acute abdominal disorders as well as neurologic disorders associated with motor peripheral neuropathy must be considered. It is important to know which agents could precipitate attacks of the disease, since the list includes many drugs. It is also important to identify latent cases, in which attacks of the disease might be precipitated by factors such as drugs and hormones. Treatment is symptomatic, glucose solutions and hematin should be administered. The paper presents a case of a female patient with hereditary coproporphyria, an autosomal dominant hepatic porphyria which results from a deficiency of the coproporphyrinogen oxidase enzyme. The clinical manifestations of the disease include acute attacks of abdominal pain, neuropsychiatric disorder and possible photosensitivity.
Izvleček		Porfirije so bolezenska stanja, ki so posledica prirojene ali pridobljene motnje v sintezi hema. V klinični sliki hepatičnih porfirij je značilna prizadetost živčevja in/ali kože. Prizadetost živčevja se kaže z bolečinami v trebuhu in s periferno nevropatijo. Diferencialno diagnostično moramo misliti na akutne bolezni trebuha in nevrološke bolezni, kjer je prizadeta gibljivost mišic. Poznati je treba sprožilne dejavnike, med njimi so nevarna številna zdravila. Pomembno je ugotoviti latentne primere bolezni, pri katerih lahko s sprožilnimi dejavniki, kot so zdravila in hormoni, povzročimo nastanek bolezni. Zdravljenje je simptomatsko, uporabljamo glukozo in hematin. Avtorji prikažejo primer bolnice s hereditarno koproporfirijo, ki je avtosomna dominantna hepatična porfirija in je posledica okvare v encimu koproporfirinogen oksidaza. V klinični sliki imamo napade krčev v trebuhu, nevropsihiatrične motnje in včasih fotosenzitivnost.
Deskriptorji		PORPHYRIA, HEPATIC