• Med Klin · May 2002

    Review

    [Genetic risk factors in pancreatic diseases--significance for general practice].

    • Volker Keim.
    • Medizinische Klinik und Poliklinik II der Universität Leipzig. keimv@medizin.uni-leipzig.de
    • Med Klin. 2002 May 15; 97 (5): 278-84.

    AbstractGENETIC RISK FACTORS: Recently, several genetic risk factors for chronic pancreatic diseases were found. In patients with chronic pancreatitis several mutations of the cationic trypsinogen were identified. In the majority of these subjects an autosomal dominant disease was observed. Mutations in the pancreatic secretory trypsin inhibitor (SPINK 1) were found in 20% of subjects with idiopathic, in 5% of those with alcoholic chronic and in 50% of those with tropical pancreatitis. Further variants were identified in CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), a chlorid transporter initially identified a disease-causing molecule in cystic fibrosis. In approximately 20-25% of the patients with chronic pancreatitis a mutation of one of these genes can be found.

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