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Rezumat
Progresele înregistrate în ultimele decenii în domeniul
geneticii au dus la o mai bună înţelegere a patogenezei
pancreatitei cronice şi au deschis noi perspective în abordarea
acestei patologii. Mutaţiile R122H şi N29I ale genei
ce codifică tripsinogenul cationic PRSS1 sunt autosomaldominante
şi determină dezvoltarea pancreatitei cronice
ereditare cu o penetraţie fenotipică de 80%. S-a demonstrat
că mutaţiile sus-numite ale PRSS1 cresc conversia
autocatalitică a tripsinogenului în tripsină, acesta cauzând
activarea prematură a tripsinogenului intrapancreatic, cu
dezechilibrarea balanţei intrapancreatice de proteaze şi inhibitori
ai acestora şi autoliza ţesutului pancreatic. Rolul
mutaţiilor genice menţionate în susceptibilitatea pentru
pancreatita cronică în corelaţie cu alţi factori de risc urmează
a fi studiat.
Summary
The progress achieved in genetics in recent decades
have led to a better understanding of the pathogenesis of
chronic pancreatitis and opened new perspectives in ap-