Mutácia protrombínového génu 20210A v slovenskej populácii

English version

Autoři: Juraj Chudej; Ivana Plameňová
Působiště autorů: Department of Haematology and Transfusion Medicine, National Centre for Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Slovakia
Vyšlo v časopise: Vnitř Lék 2016; 62(4): 281-286
Kategorie: Původní práce

Souhrn

Úvod:
Mutácia faktora V Leiden (FVL) spolu a mutácia G20210A v protrombínovom géne (PTM) patria medzi 2 najčastejšie genetické polymorfizmy, ktoré predispozíciou pre rozvoj prevej epizódy venózneho tromboemblizmu (VTE). PTM sa vyskytuje v 2 % belošskej populácie. Hlavným cieľom tejto práce bolo zistiť prevalenciu PTM v populácii pacientov s anamnézou trombotickej príhody vs. zdravých kontrolách.

Materiál a metódy:
Za účelom posúdenie prítomnosti PTM bola realizovaná PCR analýza z DNA extrahovanej z periférnych leukocytov.

Výsledky:
Do štúdie bolo zaradených 2 274 pacientov, z nich 157 (6,9 %) malo prítomnú PTM. PTM mutácia bola prítomná u 2,6 % kontrol z celkového počtu 303 dobrovoľníkov. Analyzovali sme klinickú manifestáciu PTM. Pozorovali sme 123 venóznych trombóz, 46 artériových trombóz a 14 opakovaných spontánnych potratov. V tomto článku sme ďalej analyzovali ďalšie možné rizikové faktory rozvoja trombózy u pacientov s prítomnou PTM.

Záver:
Podľa našich vedomostí je toto najväčšia epidemiologická štúdia zameraná na výskyt PTM v strednej Európe. Za použitia štatistickej analýzy sme zistili relatívne vysoký výskyt PTM v populácii pacientov s anamnézou trombózy (6,9 %), ale aj u zdravých kontrol (2,6 %). Riziko trombózy je nezávislé od veku a pohlavia. Štúdia zároveň ukázala pomerne častý výskyt dvojitej prítomnosti PTM a FVL.

Kľúčové slová:
mutácia – populácia – protrombín – trombóza

Zdroje

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