Literature DB >> 18286680

Role of genetic disorders in acute recurrent pancreatitis.

Volker Keim1.   

Abstract

There was remarkable progress in the understanding of the role genetic risk factors in chronic pancreatitis. These factors seem to be much more important than thought in the past. The rare autosomal-dominant mutations N29I and R122H of PRSS1 (cationic trypsinogen) as well as the variant N34S of SPINK1 (pancreatic secretory trypsin inhibitor) are associated to a disease onset in childhood or youth. Compared to chronic alcoholic pancreatitis the progression is slow so that for a long time only signs of acute-recurrent pancreatitis are found. Only at later time points (more than 10-15 years) there is evidence for chronic pancreatitis in the majority of patients. Acute recurrent pancreatitis may therefore be regarded as a transition state until definite signs of chronic pancreatitis are detectable.

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Year:  2008        PMID: 18286680      PMCID: PMC2689401          DOI: 10.3748/wjg.14.1011

Source DB:  PubMed          Journal:  World J Gastroenterol        ISSN: 1007-9327            Impact factor:   5.742


  21 in total

1.  Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis.

Authors:  H Witt; W Luck; M Becker; M Böhmig; A Kage; K Truninger; R W Ammann; D O'Reilly; A Kingsnorth; H U Schulz; W Halangk; V Kielstein; W T Knoefel; N Teich; V Keim
Journal:  JAMA       Date:  2001-06-06       Impact factor: 56.272

2.  Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

Authors:  H Witt; W Luck; H C Hennies; M Classen; A Kage; U Lass; O Landt; M Becker
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

3.  Clinical characterization of patients with hereditary pancreatitis and mutations in the cationic trypsinogen gene.

Authors:  V Keim; N Bauer; N Teich; P Simon; M M Lerch; J Mössner
Journal:  Am J Med       Date:  2001-12-01       Impact factor: 4.965

4.  Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations.

Authors:  P G Noone; Z Zhou; L M Silverman; P S Jowell; M R Knowles; J A Cohn
Journal:  Gastroenterology       Date:  2001-12       Impact factor: 22.682

5.  Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.

Authors:  K Truninger; N Malik; R W Ammann; B Muellhaupt; B Seifert; H J Müller; H E Blum
Journal:  Am J Gastroenterol       Date:  2001-09       Impact factor: 10.864

6.  Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.

Authors:  Niels Teich; Nadine Bauer; Joachim Mössner; Volker Keim
Journal:  Am J Gastroenterol       Date:  2002-02       Impact factor: 10.864

7.  The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease.

Authors:  J Threadgold; W Greenhalf; I Ellis; N Howes; M M Lerch; P Simon; J Jansen; R Charnley; R Laugier; L Frulloni; A Oláh; M Delhaye; I Ihse; O B Schaffalitzky de Muckadell; A Andrén-Sandberg; C W Imrie; J Martinek; T M Gress; R Mountford; D Whitcomb; J P Neoptolemos
Journal:  Gut       Date:  2002-05       Impact factor: 23.059

8.  SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh. A preliminary report.

Authors:  L Rossi; R H Pfützer; S Parvin; L Ali; S Sattar; A K Kahn; N Gyr; D C Whitcomb
Journal:  Pancreatology       Date:  2001       Impact factor: 3.996

9.  Hereditary pancreatitis caused by triplication of the trypsinogen locus.

Authors:  Cédric Le Maréchal; Emmanuelle Masson; Jian-Min Chen; Frédéric Morel; Philippe Ruszniewski; Philippe Levy; Claude Férec
Journal:  Nat Genet       Date:  2006-10-29       Impact factor: 38.330

10.  Alcohol consumption and mortality: modelling risks for men and women at different ages.

Authors:  Ian R White; Dan R Altmann; Kiran Nanchahal
Journal:  BMJ       Date:  2002-07-27
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  8 in total

1.  Transgenic expression of pancreatic secretory trypsin inhibitor-1 rescues SPINK3-deficient mice and restores a normal pancreatic phenotype.

Authors:  Joelle M-J Romac; Masaki Ohmuraya; Cathy Bittner; M Faraz Majeed; Steven R Vigna; Jianwen Que; Brian E Fee; Thomas Wartmann; Ken-ichi Yamamura; Rodger A Liddle
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2010-01-28       Impact factor: 4.052

Review 2.  Etiology and diagnosis of acute biliary pancreatitis.

Authors:  Erwin J M van Geenen; Donald L van der Peet; Pranav Bhagirath; Chris J J Mulder; Marco J Bruno
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2010-08-10       Impact factor: 46.802

3.  Ablation of huntingtin in adult neurons is nondeleterious but its depletion in young mice causes acute pancreatitis.

Authors:  Guohao Wang; Xudong Liu; Marta A Gaertig; Shihua Li; Xiao-Jiang Li
Journal:  Proc Natl Acad Sci U S A       Date:  2016-03-07       Impact factor: 11.205

Review 4.  Endoscopic ultrasonography for surveillance of individuals at high risk for pancreatic cancer.

Authors:  Gabriele Lami; Maria Rosa Biagini; Andrea Galli
Journal:  World J Gastrointest Endosc       Date:  2014-07-16

5.  A comprehensive study indicates PRSS1 gene is significantly associated with pancreatitis.

Authors:  Jie Liu; Hong-xin Zhang
Journal:  Int J Med Sci       Date:  2013-06-13       Impact factor: 3.738

6.  Role of endoscopic ultrasound in idiopathic acute pancreatitis with negative ultrasound, computed tomography, and magnetic resonance cholangiopancreatography.

Authors:  Surinder Singh Rana; Deepak Kumar Bhasin; Chalapathi Rao; Kartar Singh
Journal:  Ann Gastroenterol       Date:  2012

7.  Risk factors and prediction score for chronic pancreatitis: A nationwide population-based cohort study.

Authors:  Yen-Chih Lin; Chew-Teng Kor; Wei-Wen Su; Yu-Chun Hsu
Journal:  World J Gastroenterol       Date:  2018-11-28       Impact factor: 5.742

8.  CFTR polymorphisms of healthy individuals in two Chinese cities--Changchun and Nanjing.

Authors:  Chun Xiang Jin; Kotoyo Fujiki; Ying Song; Zhang Ping; Miyuki Nakakuki; Mu Xin Wei; Su Min Zhang; Hiroshi Ishiguro; Satoru Naruse
Journal:  Nagoya J Med Sci       Date:  2012-08       Impact factor: 1.131

  8 in total

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