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Dtsch Med Wochenschr 2017; 142(09): 673-677
DOI: 10.1055/s-0043-100810
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© Georg Thieme Verlag KG Stuttgart · New York

Gleiche Varianten, unterschiedlicher Verlauf: Genetik der chronischen Pankreatitis

Identical Variants Different Disease Course – Genetics of Chronic Pancreatitis
Sebastian Beer
,
Joachim Mössner
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Publication History

Publication Date:
28 April 2017 (online)

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Abstract

Multiple genetic associations with chronic pancreatitis have been identified. In cases with hereditary pancreatitis family history is reported and mostly distinct causative variants in cationic trypsinogen (PRSS1) are identified. Furthermore, variants in other genes of proteases and anti-proteases of the digestive enzyme cascade (SPINK1, CTRC, CPA1), are also associated with chronic pancreatitis. Interestingly, penetrance of associated variants as well as the disease course are variable. As such environmental factors like smoking may play an important role. Patients with chronic pancreatitis of unknown etiology should be offered genetic testing after referral to a pancreatic center.

Für die chronische Pankreatitis sind verschiedene genetische Assoziationen beschrieben. Bei der hereditären Pankreatitis liegen eine positive Familienanamnese und am häufigsten kausale Varianten im kationischen Trysinogen (PRSS1) vor. Neben diesen wurden weitere genetische Veränderungen in Proteasen und Anti-Proteasen (SPINK1, CTRC, CPA1) der Verdauungsenzymkaskade bei Patienten mit chronischer Pankreatitis als assoziiert beschrieben. Die Penetranz der genetischen Veränderungen, das heißt der klinische Verlauf der chronischen Pankreatitis ist variabel. Umweltfaktoren, wie zum Beispiel das Rauchen sind hierbei von Bedeutung. Bei Diagnosestellung einer chronischen Pankreatitis ungeklärter Ätiologie kann den Patienten eine genetische Analyse nach Vorstellung in einem Pankreaszentrum angeboten werden.

Schlüsselwörter

Chronische Pankreatitis - Genetik - hereditäre Pankreatitis - Varianten - PRSS1

Key words

chronic pancreatitis - genetics - hereditary pancreatitis - variants - PRSS1
 

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