Naslov
Alfa-1-antitripsin deficijencija
(Alpha-1-antitrypsin deficiency)

Autori
Alilović, Marija ; Hečimovi, Ana ; Marušić, Ante ; Mažuranić, Ivica ; Peroš-Golubičić, Tatjana ; Smojver-Ježek, Silvana ; Tekavec-Trkanjec, Jasna

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Knjiga sažetaka:5.kongres Hrvatskih pulmologa / - Dubrovnik, 2009, 39-39

Skup
5.kongres Hrvatskih pulmologa

Mjesto i datum
Dubrovnik, Hrvatska, 07.10.2010. - 10.10.2010

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
Alfa-1-antitripsin; deficijencija
(Alpha-1-antitrypsin deficiency)

Sažetak
Alpha 1 antitrypsin deficiency is a rare hereditary disease with gene mutation located on 14q31-32 chromosome. Alpha 1 antitrypsin is a glycoprotein mainly produced by synthesize in the liver. It inhibits proteolytic activity in serum and thus prevents tissue damage. Diagnosis is based upon the detection of decreased alpha-1-antytripsine in serum and genetic confirmation. Alpha 1 antitrypsin deficiency causes liver dysfunction and respiratory disease such as emphysema, predominantly in lower lobes. Respiratory manifestations occur mainly in middle-aged adults. Smoking and dust exposure, in addition to the genetic mutation, modify immunological and inflammatory response and lead to progressive deterioration of respiratory function. Treatment is based on substitution with human alpha 1 antitrypsin. We present a case of 47-year-old male patient, ex-smoker, with alpha1 antytripsin deficiency and advanced emphysema, currently under substitution therapy.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA