[Genetically determined pancreatic diseases].

Overall, genetically determined diseases of the pancreas are rare. Recently, it was demonstrated that in chronic pancreatitis many patients carry genetic changes in associated genes. Aside from chronic pancreatitis, cystic fibrosis is also characterized by exocrine insufficiency in many patients. Genetic alterations in CFTR can be found in patients suffering from chronic pancreatitis and in patients with cystic fibrosis. According to this fact, the analysis of CFTR alterations in both disease forms has improved the understanding of underlying pathogenetic mechanisms. Shwachman-Diamond and Johanson Blizzard syndrome are rare pancreatic disorders, characterized by exocrine pancreatic insufficiency in addition to other phenotypic features. As such, due to the early onset of both disease forms, diagnosis of cystic fibrosis has to be ruled out in patients with exocrine insufficiency, which can be achieved by performing sweat chloride tests. Even pancreatic cancer can accumulate in some families and a genetic basis was recently demonstrated for some patients. In all mentioned disease entities, a genetic analysis of associated genes has become essential for establishing the diagnosis. Although genetic knowledge and the finding of genetic alterations in different genes has not changed therapy of the mentioned diseases so far, the future will tell in which way genetic knowledge can be integrated to change modalities of therapy.