Der Internist

, Volume 46, Issue 2, pp 123–130 | Cite as

Chronische Pankreatitis

Klinische Bedeutung genetischer Risikofaktoren
Schwerpunkt: Pankreaserkrankungen

Zusammenfassung

Der Schlüssel zum Verständnis der genetischen Ursachen der chronischen Pankreatitis war die Identifikation einer spezifischen Mutation des kationischen Trypsinogens bei mehreren großen Familien mit hereditärer chronischer Pankreatitis. In rascher Folge wurden weitere genetische Variationen dieses Gens auch bei kleineren Familien mit nur wenigen Betroffenen nachgewiesen. Wenig später wurden Mutationen des wichtigsten intrapankreatischen Trypsininhibitors SPINK1 in hoher Prävalenz sowohl bei Patienten mit idiopathischer, tropischer und alkoholischer chronischer Pankreatitis gefunden. Wir fassen hier interessante genetische und biochemische Befunde zusammen, stellen klinische Charakteristika der betroffenen Patienten vor und summieren die bisherigen Empfehlungen zur genetischen Analyse, zum klinischen Follow-up und zur Karzinomprävention.

Schlüsselwörter

Chronische Pankreatitis Hereditäre Pankreatitis Pankreaskarzinom Kationisches Trypsinogen Mutationen 

Clinical implications of genetic risk factors of chronic pancreatitis

Abstract

The identification of a specific mutation in the human cationic trypsinogen gene in large kindreds with hereditary pancreatitis was the key to understand the genetic background of chronic pancreatitis. Rapidly, other variants within the same gene were identified—even in small families with a minority of patients. Later, mutations of the most important intrapancreatic trypsin inhibitor SPINK1 were found with high prevalence in patients with idiopathic, tropical and alcoholic chronic pancreatitis. We summarize interesting genetic and biochemical findings, point to clinical features and review recommendations for genetic analysis, follow-up and cancer prevention.

Keywords

Chronic pancreatitis Hereditary pancreatitis Pancreatic cancer Cationic trypsinogen Mutations 

Notes

Interessenkonflikt:

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Copyright information

© Springer Medizin Verlag 2005

Authors and Affiliations

  1. 1.Medizinische Klinik und Poliklinik IIUniversität Leipzig
  2. 2.Medizinische Klinik und Poliklinik IIUniversität LeipzigLeipzig

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