Author/Editor		Požek, Kity; Novak, Katja; Karas Kuželički, Nataša
Title		Dedna hemokromatoza
Translated title		Hereditary hemocromatosis
Type		članek
Vol. and No.		Letnik 21, št. 2
Publication year		2017
Volume		str. 20-31
ISSN		1408-2756 - Gastroenterolog : revija slovenske gastroenterološke sekcije
Language		slv
Abstract		Dedna hemokromatoza (DH) je v severnoevropski populaciji zelo pogosta genetska motnja, pri kateri pride do kopičenja železa v telesu in zato do poškodb številnih organov. Poznanih je 5 tipov. Najpogostejši je tip 1, ki se deduje avtosomno recesivno. Z izjemo tipa 2, se DH fenotipsko izrazi šele v odrasli dobi, ko se v organizmu železo nakopiči in se izrazijo s tern povezani simptomi. DH zdravimo s flebotomijo, redkeje z železo-kelirajočimi zdravili. V fazi razvoja je nekaj novih zdravil za zdravljenje DH. Pomembno je pravočasno odkriva nje bolezni, saj lahko razvoj ireverzibilnih poškodb organov preprečimo z zgodnjo uvedbo terapije. Pozornost bi bilo smiselno usmeriti tudi h kontraindikacijam, ki jih bolezen prinaša (za prehranska dopolnila, zdravila ipd.) in tistim, ki onemogočajo uveljavljeno terapijo DH (huda anemija, srčno popuščanje, slabo prenašanje flebotomije ...). V zadnjih letih je prišlo do napredka pri razumevanju patofiziologije DH, zato se je pojavila potreba po ureditvi področja in predstavitvi novih dognanj.Hereditary hemochromatosis (HH) is very common genetic disorder of iron-overload in Northern European populations. Excess iron is stored in the organism and causes multi organ damage. There are 5 types of HH. The most common is type 1which is inherited in an autosomal recessive pattern. With the exception of the type 2, HH is phenotypically expressed in adulthood, when the critical levels of iron are accumulated in the body. The most common treatment of HH is phlebotomy, in rare cases iron chelating agents are used. There are some new drugs for this purpose under development. Early diagnosis and therapy is essential for preven ting irreversible organ damage. It is also important to focus on contraindications caused by HH (for food supplements, medications etc.) and to contraindications that prevent implemented therapy of RH (severe anemia, cardiac failure, poor phlebotomy tolerance etc). Since substantial progress has been made recently in the understanding of HH patophysiology, we present new discoveries in the field.
Descriptors		Ciroza jeter
Keywords		hepcidin preobremenitev z železom flebotomija hemokromatoza feritin