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Genetik entzündlicher Pankreaserkrankungen

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Book cover Erkrankungen des Pankreas

Zusammenfassung

In den letzten Jahren hat unser Wissen über genetische Ursachen entzündlicher Pankreaserkrankungen deutlich zugenommen. Vor allem bei der CP konnten zahlreiche genetische Assoziationen beschrieben werden. Dieses Wissen hat insofern eine Relevanz für unseren klinischen Alltag, da wir Patienten mit einer positiven Familienanamnese und jungen Patienten mit einer CP ungeklärter Ätiologie nach entsprechender Aufklärung eine genetische Untersuchung des PRSS1-Gens anbieten können. Eine prädiktive Testung oder auch eine vorgeburtliche Testung ist nicht durchzuführen. Aufgrund der komplexen genetischen Assoziationen bei CP sollten Patienten vor und nach einer genetischen Untersuchung in einem Zentrum mit entsprechender Expertise vorgestellt werden. Bei der AP ist neben der SPINK1-Variante p.N34S keine valide genetische Assoziation beschrieben. Eine genetische Testung bei Patienten mit einer AP ist nicht indiziert.

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Literatur

  • Archer H, Jura N, Keller J et al (2006) A mouse model of hereditary pancreatitis generated by transgenic expression of R122H trypsinogen. Gastroenterology 131: 1844–1855

    Article  PubMed  CAS  Google Scholar 

  • Audrezet MP, Chen JM, Le Marechal C et al (2002) Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis. Eur J Hum Genet 10: 100–106

    Article  PubMed  CAS  Google Scholar 

  • Beer S, Zhou J, Szabó A et al (2012) Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk. Gut [Epub ahead of print]

    Google Scholar 

  • Castellani C, Gomez Lira M, Frulloni L et al (2001) Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis. Hum Mutat 18: 166

    Article  PubMed  CAS  Google Scholar 

  • Chiari H (1896) Über Selbstverdauung des menschlichen Pankreas. Zeitschrift für Heilkunde 17: 69–96

    Google Scholar 

  • Cohn JA, Friedman KJ, Noone PG et al (1998) Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 339: 653–658

    Article  PubMed  CAS  Google Scholar 

  • Comfort MW, Steinberg AG (1952) Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology 21: 54–63

    PubMed  CAS  Google Scholar 

  • Gaiser S, Daniluk J, Liu Y et al (2011) Intracellular activation of trypsinogen in transgenic mice induces acute but not chronic pancreatitis. Gut 60: 1379–1388

    Article  PubMed  CAS  Google Scholar 

  • Guenther A, Aghdassi A, Muddana V et al (2010) Toll-like receptor 4 polymorphisms in German and US patients are not associated with occurrence or severity of acute pancreatitis. Gut 59: 1154–1155

    Article  PubMed  Google Scholar 

  • Hoffmeister A, Mayerle J, Beglinger C et al (2012) S3-Consensus Guidelines on definition, etiology, diagnosis and medical, endoscopic and surgical management of chronic pancreatitis German Society of Digestive and Metabolic Diseases (DGVS). Z Gastroenterol 50: 1176–1224

    Article  PubMed  CAS  Google Scholar 

  • Hofner P, Balog A, Gyulai Z et al (2006) Polymorphism in the IL-8 gene, but not in the TLR4 gene, increases the severity of acute pancreatitis. Pancreatology 6: 542–548

    Article  PubMed  CAS  Google Scholar 

  • Kuwata K, Hirota M, Shimizu H et al (2002) Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution. J Gastroenterol 37: 928–934

    Article  PubMed  CAS  Google Scholar 

  • Le Marechal C, Masson E, Chen JM et al (2006) Hereditary pancreatitis caused by triplication of the trypsinogen locus. Nat Genet 38: 1372–1374

    Article  PubMed  CAS  Google Scholar 

  • Masson E, Le Marechal C, Chandak GR et al (2008) Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis. Clin Gastroenterol Hepatol 6: 82–88

    Article  PubMed  CAS  Google Scholar 

  • Ooi CY, Dorfman R, Cipolli M et al (2011) Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis. Gastroenterology 140: 153–161

    Article  PubMed  CAS  Google Scholar 

  • O’Reilly DA, Witt H, Rahman SH et al (2008) The SPINK1 N34S variant is associated with acute pancreatitis. Eur J Gastroenterol Hepatol 20: 726–731

    Article  PubMed  Google Scholar 

  • Ramsey BW, Davies J, McElvaney NG et al (2011) A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 365: 1663–1672

    Article  PubMed  CAS  Google Scholar 

  • Rosendahl J, Landt O, Bernadova J et al (2013) CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? Gut 62: 582–592

    Article  PubMed  CAS  Google Scholar 

  • Rosendahl J, Witt H, Szmola R et al (2008) Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. Nat Genet 40: 78–82

    Article  PubMed  CAS  Google Scholar 

  • Sadr-Azodi O, Andrén-Sandberg Å, Orsini N et al (2012) Cigarette smoking, smoking cessation and acute pancreatitis: a prospective population-based study. Gut 61: 262–267

    Article  PubMed  CAS  Google Scholar 

  • Selig L, Sack U, Gaiser S et al (2006) Characterisation of a transgenic mouse expressing R122H human cationic trypsinogen. BMC Gastroenterol 6: 30

    Article  PubMed  Google Scholar 

  • Sharer N, Schwarz M, Malone G et al (1998) Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 339: 645–652

    Article  PubMed  CAS  Google Scholar 

  • Shwachman H, Lebenthal E, Khaw KT (1975) Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes. Pediatrics 55: 86–95

    PubMed  CAS  Google Scholar 

  • Teich N, Rosendahl J, Toth M et al (2006) Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis. Hum Mutat 27: 721–730

    Article  PubMed  CAS  Google Scholar 

  • Weiss FU, Simon P, Bogdanova N et al (2005) Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. Gut 54: 1456–1460

    Article  PubMed  CAS  Google Scholar 

  • Whitcomb DC, Gorry MC, Preston RA et al (1996a) Hereditary pancreatitis a mutation in the cationic trypsinogen gene. Nat Genet 14: 141–145

    Article  CAS  Google Scholar 

  • Whitcomb DC, Larusch J, Krasinskas AM et al (2012) Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. Nat Genet [Epub ahead of print]

    Google Scholar 

  • Whitcomb DC, Preston RA, Aston CE et al (1996b) A gene for hereditary pancreatitis maps to chromosome 7q35. Gastroenterology 110: 1975–1980

    Article  CAS  Google Scholar 

  • Witt H, Luck W, Becker M et al (2001) Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis. JAMA 285: 2716–2717

    Article  PubMed  CAS  Google Scholar 

  • Witt H, Luck W, Hennies HC et al (2000) Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 25: 213–216

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Joachim Mössner .

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Mössner, J., Rosendahl, J. (2013). Genetik entzündlicher Pankreaserkrankungen. In: Beger, H., et al. Erkrankungen des Pankreas. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-37964-2_2

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  • DOI: https://doi.org/10.1007/978-3-642-37964-2_2

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  • Publisher Name: Springer, Berlin, Heidelberg

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