Research advances in hereditary pancreatitis

doi:10.3877/cma.j.issn.2095-7157.2018.02.010

Abstract

Abstract:

Hereditary pancreatitis is a type of chronic pancreatitis with a high risk of cancer and one of the major causes of pancreatitis in children. This article reviews the recent research progress of hereditary pancreatitis, including diagnosis, pathogenic genes, pathogenesis, and treatment, and aims to provide new reference information for the diagnosis and treatment of genetic pancreatitis and basic research.

Key words: Hereditary Pancreatitis, PRSS1 gene, SPINK1 gene, PRSS1 gene, ERCP

Mingyang Li, Jing Yang. Research advances in hereditary pancreatitis[J]. Chinese Journal of Gastrointestinal Endoscopy(Electronic Edition), 2018, 05(02): 87-92.

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhwcnjdzzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.2095-7157.2018.02.010

https://zhwcnjdzzz.cma-cmc.com.cn/EN/Y2018/V05/I02/87

References 75

[1]	Cote GA，Yadav D，Slivka A，et al.Alcohol and Smoking as Risk Factors in an Epidemiology Study of Patients With Chronic Pancreatitis[J]．Clin Gastroenterol H，2011，9(3):266-273.
[2]	Comfort MW，Steinberg AG.Pedigree of a family with hereditary chronic relapsing pancreatitis[J]．Gastroenterology，1952，21(1):54-63.
[3]	Whitcomb DC，Gorry MC，Preston RA，et al.Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene[J]．Nat Genet，1996，14(2):141-145.
[4]	Creighton JE，Lyall R，Wilson DI，et al.Mutations of the cationic trypsinogen gene in patients with hereditary pancreatitis[J]．Brit J Surg，2000，87(2):170-175.
[5]	Masamune A，Kikuta K，Hamada S，et al.Nationwide survey of hereditary pancreatitis in Japan.[J]．J Gastroenterol，2018，53(1):152-160.
[6]	刘奇才，程祖建，杨艳，等．一个遗传性胰腺炎家系中新发现的胰蛋白酶原基因突变[J]．遗传杂志，2007，29(9):1067-1070.
[7]	骆休，吴志雄，刘奇才，等．遗传性胰腺炎临床和遗传特点分析13例[J]．世界华人消化杂志，2008，16(19):2188-2190.
[8]	刘奇才，郜峰，许幼仕，等．遗传性胰腺炎胰蛋白酶原基因突变分析[J]．世界华人消化杂志，2007，15(33):3514-3517.
[9]	Lowenfels AB，Maisonneuve P，DiMagno EP，et al.Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group[J]．J Natl Cancer Inst，1997，89(6):442-446.
[10]	Le Bodic L，Schnee M，Georgelin T，et al.An exceptional genealogy for hereditary chronic pancreatitis[J]．Dig Dis Sci，1996，41(7):1504-1510.
[11]	Sibert JR.Hereditary pancreatitis in England and Wales[J]．J Med Genet，1978，15(3):189-201.
[12]	Keim V，Bauer N，Teich N，et al.Clinical characterization of patients with hereditary pancreatitis and mutations in the cationic trypsinogen gene[J]．Am J Med，2001，111(8):622-626.
[13]	Rebours V，Boutron-Ruault MC，Schnee M，et al.The natural history of hereditary pancreatitis：a national series[J]．Gut，2009，58(1):97-103.
[14]	Joergensen M，Brusgaard K，Cruger DG，et al.Incidence，prevalence，etiology, and prognosis of first-time chronic pancreatitis in young patients: a nationwide cohort study[J]．Dig Dis Sci，2010，55(10):2988-2998.
[15]	Lowenfels AB，Maisonneuve P，Whitcomb DC.Risk factors for cancer in hereditary pancreatitis. International Hereditary Pancreatitis Study Group[J]．Med Clin North Am，2000，84(3):565-573.
[16]	Sultan M，Werlin S，Venkatasubramani N．Genetic Prevalence and Characteristics in Children With Recurrent Pancreatitis[J]．J Pediatr Gastr Nutr，2012，54(5):645-650.
[17]	Poddar U，Yachha SK，Mathias A，et al.Genetic predisposition and its impact on natural history of idiopathic acute and acute recurrent pancreatitis in children[J]．Dig Liver Dis，2015，47(8):709-714.
[18]	Choudari CP，Nickl NJ，Fogel E，et al.Hereditary pancreatitis：clinical presentation，ERCP findings，and outcome of endoscopic therapy[J]．Gastrointestinal Endoscopy，2002，56(1):66-71.
[19]	杨惊，文宇．遗传性胰腺炎[J]．国外医学·外科学分册，2004，31(2):80-82.
[20]	田伯乐．遗传性胰腺炎研究现状[J]．国际消化病杂志，2002，22(3):178-180.
[21]	Paolini O，Hastier P，Buckley M，et al.The natural history of hereditary chronic pancreatitis: a study of 12 cases compared to chronic alcoholic pancreatitis.[J]．Pancreas，1998，17(3):266-271.
[22]	Howes N，Lerch MM，Greenhalf W，et al.Clinical and genetic characteristics of hereditary pancreatitis in Europe[J]．Clin Gastroenterol Hepatol，2004，2(3):252-261.
[23]	LaFemina J，Roberts PA，Hung YP，et al.Identification of a novel kindred with familial pancreatitis and pancreatic cancer[J]．Pancreatology，2009，9(3):273-279.
[24]	LaRusch J，Barmada MM，Solomon S，et al.Whole exome sequencing identifies multiple，complex etiologies in an idiopathic hereditary pancreatitis kindred[J]．JOP，2012，13(3):258-262.
[25]	Schneider A，Larusch J，Sun XM，et al.Combined Bicarbonate Conductance-Impairing Variants in CFTR and SPINK1 Variants Are Associated With Chronic Pancreatitis in Patients Without Cystic Fibrosis[J]．Gastroenterology，2011，140(1):162-171.
[26]	Howes N，Greenhalf W，Stocken DD，et al.Cationic trypsinogen mutations and pancreatitis[J]．Gastroenterol Clin N，2004，33(4):767-787.
[27]	Teich N，Ockenga J，Hoffmeister A，et al.Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation[J]．Gastroenterology，2000，119(2):461-465.
[28]	Schnur A，Beer S，Witt H，et al.Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis[J]．Gut，2014，63(2):337-343.
[29]	Rygiel AM，Beer S，Simon P，et al.Gene Conversion Between Cationic Trypsinogen (PRSS1) and the Pseudogene Trypsinogen 6 (PRSS3P2) in Patients with Chronic Pancreatitis[J]．Hum Mutat，2015，36(3):350-356.
[30]	Dytz MG，Mendes de Melo J，de Castro Santos O，et al.Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study[J]．Medicine (Baltimore)，2015，94(37):e1508.
[31]	Kereszturi E，Szmola R，Kukor Z，et al.Hereditary Pancreatitis Caused by Mutation-Induced Misfolding of Human Cationic Trypsinogen: A Novel Disease Mechanism[J]．Hum Mutat，2009，30(4):575-582.
[32]	Patel MR，Eppolito AL，Willingham FF.Hereditary pancreatitis for the endoscopist[J]. Therap Adv Gastroenterol，2013，6(2):169-179.
[33]	Applebaum-Shapiro SE，Finch R，Pfutzer RH，et al.Hereditary pancreatitis in North America: the Pittsburgh-Midwest Multi-Center Pancreatic Study Group Study[J]．Pancreatology，2001，1(5):439-443.
[34]	Ulrich CD 2nd，Kopras E，Wu Y，et al.Hereditary pancreatitis: epidemiology, molecules, mutations, and models.[J]．J Lab Clin Med，2000，136(4):260-274.
[35]	Grocock CJ，Rebours V，Delhaye MN，et al.The variable phenotype of the p．A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families[J]．Gut，2010，59(3):357-363.
[36]	Sahin-Toth M．Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis[J]．J Biol Chem，2000，275(30):22750-22755.
[37]	Sahin-Toth M，Toth M．Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen[J]．Biochem Biophys Res Commun，2000，278(2):286-289.
[38]	Gorry MC，Gabbaizedeh D，Furey W，et al.Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis[J]．Gastroenterology，1997，113(4):1063-1068.
[39]	Teich N，Mossner J，Keim V．Mutations of the cationic trypsinogen in hereditary pancreatitis[J]．Hum Mutat，1998，12(1):39-43.
[40]	Nemoda Z，Sahin-Toth M．Chymotrypsin C (caldecrin) stimulates autoactivation of human cationic trypsinogen[J]．J Biol Chem，2006，281(17):11879-11886.
[41]	Witt H，Luck W，Hennies HC，et al.Mutations in the gene encoding the serine protease inhibitor，Kazal type 1 are associated with chronic pancreatitis[J]．Nat Genet，2000，25(2):213-216.
[42]	Aoun E，Chang CC，Greer JB，et al.Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using metA－analysis[J]．Plos One，2008，3(4):e2003.
[43]	Pfutzer RH，Barmada MM，Brunskill APJ，et al.SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis[J]．Gastroenterology，2000，119(3):615-623.
[44]	Reddy DN，Prasad SS.Genetic basis of chronic pancreatitis in Asia Pacific region[J]．J Gastroenterol Hepatol，2011，26(Suppl 2):2-5.
[45]	Shimosegawa T，Kume K，Masamune A．SPINK1 gene mutations and pancreatitis in Japan[J]．J Gastroenterol Hepatol，2006，21(Suppl 3):S47-S51.
[46]	DiMagno MJ，DiMagno EP.Chronic pancreatitis[J]．Curr Opin Gastroenterol，2005，21(5):544-554.
[47]	Kume K，Masamune A，Ariga H，et al.Do genetic variants in the SPINK1 gene affect the level of serum PSTI？[J]．J Gastroenterol，2012，47(11):1267-1274.
[48]	Shimosegawa T，Kume K，Masamune A．SPINK1，ADH2，and ALDH2 gene variantsand alcoholic chronic pancreatitis in Japan[J]．J Gastroenterol Hepatol，2008，23,(Suppl 1):S82-S86.
[49]	Schneider A，Barmada MM，Slivka A，et al.Clinical characterization of patients with idiopathic chronic pancreatitis and SPINK1 Mutations[J]．Scand J Gastroenterol，2004，39(9):903-904.
[50]	Hameed S，Jaffe A，Verge CF.Cystic Fibrosis Related Diabetes(CFRD)-The End Stage of Progressive Insulin Deficiency[J]．Pediatr Pulm，2011，46(8):747-760.
[51]	De Boeck K，Weren M，Proesmans M，et al.Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype[J]．Pediatrics，2005，115(4):e463-e469.
[52]	Ooi CY，Durie PR.Cystic fibrosis transmembrane conductance regulator(CFTR) gene mutations in pancreatitis[J]．J Cyst Fibros，2012，11(5):355-362.
[53]	Beer S，Zhou JY，Szabo A，et al.Comprehensive functional analysis of chymotrypsin C(CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk[J]．Gut，2013，62(11):1616-1624.
[54]	Masson E，Chen JM，Scotet V，et al.Association of rare chymotrypsinogen C(CTRC) gene variations in patients with idiopathic chronic pancreatitis[J]．Hum Genet，2008，123(1):83-91.
[55]	Chang MC，Chang YT，Wei SC，et al.Association of novel chymotrypsin C gene variations and haplotypes in patients with chronic pancreatitis in Chinese in Taiwan[J]．Pancreatology，2009，9(3):287-292.
[56]	Paliwal S，Bhaskar S，Mani KR，et al.Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants[J]．Gut，2013，62(11):1602-1606.
[57]	Rosendahl J，Landt O，Bernadova J，et al.CFTR，SPINK1，CTRC and PRSS1 variants in chronic pancreatitis：is the role of mutated CFTR overestimated？[J]．Gut，2013，62(4):582-592.
[58]	Ravi Kanth V，Nageshwar Reddy D．Genetics of acute and chronic pancreatitis: An up-date[J]．World J Gastrointest Pathophysiol，2014，5(4):427-437.
[59]	Mahurkar S，Idris MM，Reddy DN，et al.Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis[J]．Gut，2006，55(9):1270-1275.
[60]	Weiss FU，Behn CO，Simon P，et al.Cathepsin B gene polymorphism Val26 is not associated with idiopathic chronic pancreatitis in European patients[J]．Gut，2007，56(9):1322-1323.
[61]	Felderbauer P，Hoffmann P，Einwachter H，et al.A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations[J]．Bmc Gastroenterol，2003，3:34.
[62]	Murugaian EE，Premkumar RMR，Radhakrishnan L，et al.Novel mutations in the calcium sensing receptor gene in tropical chronic pancreatitis in India[J]．Scand J Gastroentero，2008，43(1):117-121.
[63]	Derikx MH，Kovacs P，Scholz M，et al.Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study[J]．Gut，2015，64(9):1426-1433.
[64]	Masamune A，Nakano E，Hamada S，et al.Common variants at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with chronic pancreatitis in Japan[J]．Gut，2015，64(8):1345-1346.
[65]	Witt H，Beer S，Rosendahl J，et al.Variants in CPA1 are strongly associated with early onset chronic pancreatitis[J]．Nat Genet，2013，45(10):1216-1220.
[66]	Rosendahl J，Kirsten H，Hegyi E，et al.Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.[J]．Gut，2017，Jul 28; ([Epub ahead of print])．
[67]	Tang XY，Zou WB，Masson E，et al.The CTRB1-CTRB2 risk allele for chronic pancreatitis discovered in European populations does not contribute to disease risk variation in the Chinese population due to near allele fixation.[J]．Gut，2018，67(7):1368-1369.
[68]	Chen JM，Masson E，Le Marechal C，et al.Copy number variations in chronic pancreatitis[J]．Cytogenet Genome Res，2008，123(1-4):102-107.
[69]	Lowenfels AB，Maisonneuve P，Whitcomb DC，et al.Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis[J]．J Am Med Assoc，2001，286(2):169-170.
[70]	Rosch T，Daniel S，Scholz M，et al.Endoscopic treatment of chronic pancreatitis: A multicenter study of 1000 patients with long-term follow-up[J]．Endoscopy，2002，34(10):765-771.
[71]	Okolo PI，Pasricha PJ，Kalloo AN.What are the long-term results of endoscopic pancreatic sphincterotomy？[J]．Gastrointest Endosc，2000，52(1):15-19.
[72]	Li ZS，Wang W，Liao Z，et al.A long-term follow-up study on endoscopic management of children and adolescents with chronic pancreatitis[J]．Am J Gastroenterol，2010，105(8):1884-1892.
[73]	Dever JB，Irani S，Brandabur J，et al.Outcomes of Interventional ERCP in Hereditary Pancreatitis[J]．J Clin Gastroenterol，2010，44(1):46-51.
[74]	Bellin MD，Freeman ML，Gelrud A，et al.Total pancreatectomy and islet autotrans-plantation in chronic pancreatitis：Recommendations from PancreasFest[J]．Pancreatology，2014，14(1):27-35.
[75]	Bellin MD，Gelrud A，ArreazA－Rubin G，et al.Total pancreatectomy with islet auto-transplantation: summary of a National Institute of Diabetes and Digestive and Kidney diseases workshop[J]．Pancreas，2014，43(8):1163-1171.

Please choose a citation manager

Content to export