Alpha-1-antitrypsin deficiency (CROSBI ID 621263)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa
Podaci o odgovornosti
Alilović, Marija ; Hečimovi, Ana ; Marušić, Ante ; Mažuranić, Ivica ; Peroš-Golubičić, Tatjana ; Smojver-Ježek, Silvana ; Tekavec-Trkanjec, Jasna
engleski
Alpha-1-antitrypsin deficiency
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.
Alpha-1-antitrypsin deficiency
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
39-39.
2009.
objavljeno
Podaci o matičnoj publikaciji
Knjiga sažetaka:5.kongres Hrvatskih pulmologa
Dubrovnik:
Podaci o skupu
Nepoznat skup
predavanje
29.02.1904-29.02.2096