[Hereditary pancreatitis].
Hereditary pancreatitis should be assumed if other risk factors for the disease can not been identified and if the patient has a family history for recurrent pancreatitis, chronic pancreatitis or pancreatic cancer. Since patients with chronic pancreatitis due to mutations in the cationic trypsinogen-gene have a much higher lifetime risk of developing pancreatic cancer, specifically if they are smokers, an adequate long-term follow up in specialized centers is recommended. The most frequent genetic changes in patients with hereditary pancreatitis are mutations in the cationic trypsinogen gene. Mutations in the CFTR-gene or SPINK1-gene have been reported in patients with idiopathic pancreatitis. The clinical relevance and the therapeutic consequences of these mutations is still controversial. Genetic testing is recommended when a patient with idiopathic pancreatitis is under 25 years at diagnosis or when one or more family members have either pancreatitis or pancreatic cancer. Genetic analysis of asymptomatic family members should only be offered after adequate genetic counselling. Prenatal diagnostic is not recommended.
Simon
P
P
Abteilung für Gastroenterologie, Endokrinologie und Ernährungsmedizin, Ernst-Moritz-Arndt-Universität, Greifswald.
Weiss
F U
FU
Mayerle
J
J
Kraft
M
M
Lerch
M M
MM
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D002869:Chromosome Aberrations; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005799:Genes, Dominant / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D010190:Pancreatic Neoplasms / Q000235:genetics; D050500:Pancreatitis, Chronic / Q000175:diagnosis / Q000235:genetics*; D011379:Prognosis; D014357:Trypsin; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen / Q000235:genetics
C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen; C489303:PRSS1 protein, human; D014357:Trypsin