Alpha-1-antitrypsin Deficiency
Konečná P.1, Procházková D.1, Kozák L.2, Hanáková M.2, Vinohradská H.3, Hrstková H.1
1. dětská interní klinika FN Brno1 přednostka prof. MUDr. H. Hrstková, CSc. Centrum molekulární biologie a genové terapie IHOK FN Brno2 přednosta prof. MUDr. J. Vorlíček, CSc. Oddělení klinické biochemie FN Brno3 primář doc. MUDr. M. Dastych, CSc. |
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Summary:
The authors describe patients prospectively examined from 1998 to 2003, who had reduced
level of alpha-1-antitrypsin detected during screening in the former South-Moravian region. The
aim of the study was to determine the relation between incidence, intensity and progression of
liver damage in children with alpha-1-antitrypsin deficiency. A total of 197 probands were examined.
DNA analysis confirmed the PiZZ genotype in 22 patients, 10 children had the PiSZ genotype
and 10 had the PiMS genotype. Most of the examined probands had the PiMZ genotype. The
results indicate that the highest risk group were patients with the PiZZ genotype. The homozygotes
with the PiZZ genotype predispose to early liver affection in childhood and to the origin of
the panacinary emphysema in adults. Due to the severity of the clinical manifestations and the
cost of screening examinations, the authors recommend that screening of alpha-1-antitrypsin
deficiency to continue.
Key words:
screening, alpha-1-antitrypsin, genotype
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