Research status of hereditary pancreatitis_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

XIAO Fan , GUO Xiaoyu ,  WANG Gang , SUN Bei

Department of Pancreatic and Biliary Surgery, The First Affiliated Hospital, Harbin Medical University, Harbin 150001, P. R. China;

Corresponding author：

WANG Gang, Email: wgilu79@163.com

Keywords：

hereditary pancreatitis; cationic trypsinogen; gene mutation; chronic pancreatitis

DOI：

10.7507/1007-9424.201805008

Video：

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Objective To investigate clinicopathologic features, pathogenesis, and diagnosis and treatment of hereditary pancreatitis (HP). Method The relevant literatures on HP research in recent years were searched and reviewed. Results The HP was similar to the pancreatitis caused by the cholelithiasis, excessive alcohol consumption, hyperlipidemia, etc. in the histomorphology, function, and clinical manifestations and it was difficult to be distinguished. However, HP was different from the other types of chronic pancreatitis due to its early onset, familial, and high risk of pancreatic cancer. The HP was mainly caused by the PRSS1 mutations, and its mutation types mainly included the R122H, N29I, A16V, K23R, etc., among which the R122H and N29I were the two most common types of mutations. There was no specific treatment for the HP. The principles of treatment of HP were similar to the pancreatitist caused by other etiologies, including the nutritional support, blood sugar control, analgesia, etc.. In addition to the medical treatment, the surgical intervention was also the important means for the treatment of HP, including the pancreatic partial resection, total pancreatectomy or total pancreatectomy combined with islet cell autografting. Conclusions HP is an autosomal dominant hereditary disease characterized by recurrent attacks of pancreatitis. Relevant gene tests could be performed for patient with highly suspected HP. It faces great challenges in treatment of HP. Pathogenesis of HP needs to be constantly explored and experimental study of multicenter and large sample needs to be further studied in order to determine its best treatment strategy.

Citation： XIAO Fan, GUO Xiaoyu, WANG Gang, SUN Bei. Research status of hereditary pancreatitis. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2018, 25(11): 1380-1383. doi: 10.7507/1007-9424.201805008 Copy

1.	Comfort MW, Steinberg AG. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology, 1952, 21(1): 54-63.
2.	Whitcomb DC, Gorry MC, Preston RA, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet, 1996, 14(2): 141-145.
3.	Németh BC, Sahin-Tóth M. Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis. Am J Physiol Gastrointest Liver Physiol, 2014, 306(6): G466-G473.
4.	Patel J, Madan A, Gammon A, et al. Rare hereditary cause of chronic pancreatitis in a young male: SPINK1 mutation. Pan Afr Med J, 2017, 28: 110.
5.	Hegyi P, Wilschanski M, Muallem S, et al. CFTR: A new horizon in the pathomechanism and treatment of pancreatitis. Rev Physiol Biochem Pharmacol, 2016, 170: 37-66.
6.	Paliwal S, Bhaskar S, Mani KR, et al. Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants. Gut, 2013, 62(11): 1602-1606.
7.	Szabó A, Ludwig M, Hegyi E, et al. Mesotrypsin signature mutation in a chymotrypsin C (CTRC) variant associated with chronic pancreatitis. J Biol Chem, 2015, 290(28): 17282-17292.
8.	Witt H, Beer S, Rosendahl J, et al. Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nat Genet, 2013, 45(10): 1216-1220.
9.	Raphael KL, Willingham FF. Hereditary pancreatitis: current perspectives. Clin Exp Gastroenterol, 2016, 9: 197-207.
10.	Kujko AA, Berki DM, Oracz G, et al. A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis. Gut, 2017, 66(9): 1728-1730.
11.	Németh BC, Patai ÁV, Sahin-Tóth M, et al. Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis. Gut, 2017, 66(9): 1727-1728.
12.	Rebours V, Boutron-Ruault MC, Schnee M, et al. The natural history of hereditary pancreatitis: a national series. Gut, 2009, 58(1): 97-103.
13.	Yadav D, Lowenfels AB. The epidemiology of pancreatitis and pancreatic cancer. Gastroenterology, 2013, 144(6): 1252-1261.
14.	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. Dig Liver Dis, 2015, 47(8): 709-714.
15.	Hegyi E, Sahin-Tóth M. Genetic risk in chronic pancreatitis: the trypsin-dependent pathway. Dig Dis Sci, 2017, 62(7): 1692-1701.
16.	Jancsó Z, Sahin-Tóth M. Tighter control by chymotrypsin C (CTRC) explains lack of association between human anionic trypsinogen and hereditary pancreatitis. J Biol Chem, 2016, 291(25): 12897-12905.
17.	Raphael KL, Willingham FF. Hereditary pancreatitis: current perspectives. Clin Exp Gastroenterol, 2016, 9: 197-207.
18.	Grocock CJ, Rebours V, Delhaye MN, et al. The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families. Gut, 2010, 59(3): 357-363.
19.	Corleto VD, Gambardella S, Gullotta F, et al. New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an " Hereditary” form of pancreatitis ? BMC Gastroenterol, 2010, 10: 119.
20.	Rebours V, Boutron-Ruault MC, Schnee M, et al. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Am J Gastroenterol, 2008, 103(1): 111-119.
21.	Patel MR, Eppolito AL, Willingham FF. Hereditary pancreatitis for the endoscopist. Therap Adv Gastroenterol, 2013, 6(2): 169-179.
22.	Fink EN, Kant JA, Whitcomb DC. Genetic counseling for nonsyndromic pancreatitis. Gastroenterol Clin North Am, 2007, 36(2): 325-333.
23.	Ellis I, Lerch MM, Whitcomb DC. Genetic testing for hereditary pancreatitis: guidelines for indications, counselling, consent and privacy issues. Pancreatology, 2001, 1(5): 405-415.
24.	Teich N, Bauer N, Mössner J, et al. Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. Am J Gastroenterol, 2002, 97(2): 341-346.
25.	Konzen KM, Perrault J, Moir C, et al. Long-term follow-up of young patients with chronic hereditary or idiopathic pancreatitis. Mayo Clin Proc, 1993, 68(5): 449-453.
26.	Patel MR, Eppolito AL, Willingham FF. Hereditary pancreatitis for the endoscopist. Therap Adv Gastroenterol, 2013, 6(2): 169-179.
27.	Mekitarian Filho E, Carvalho WB, Silva FD. Acute pancreatitis in pediatrics: a systematic review of the literature. J Pediatr (Rio J), 2012, 88(2): 101-114.
28.	Uomo G, Talamini G, Rabitti PG. Antioxidant treatment in hereditary pancreatitis. A pilot study on three young patients. Dig Liver Dis, 2001, 33(1): 58-62.
29.	Oracz G, Pertkiewicz J, Kierkus J, et al. Efficiency of pancreatic duct stenting therapy in children with chronic pancreatitis. Gastrointest Endosc, 2014, 80(6): 1022-1029.
30.	Okolo PI 3rd, Pasricha PJ, Kalloo AN. What are the long-term results of endoscopic pancreatic sphincterotomy? Gastrointest Endosc, 2000, 52(1): 15-19.
31.	Rösch T, Daniel S, Scholz M, et al. Endoscopic treatment of chronic pancreatitis: a multicenter study of 1 000 patients with long-term follow-up. Endoscopy, 2002, 34(10): 765-771.
32.	Li ZS, Wang W, Liao Z, et al. A long-term follow-up study on endoscopic management of children and adolescents with chronic pancreatitis. Am J Gastroenterol, 2010, 105(8): 1884-1892.
33.	Parsi MA, Stevens T, Lopez R, et al. Extracorporeal shock wave lithotripsy for prevention of recurrent pancreatitis caused by obstructive pancreatic stones. Pancreas, 2010, 39(2): 153-155.
34.	Bellin MD, Gelrud A, Arreaza-Rubin G, et al. Total pancreatectomy with islet autotransplantation: summary of a National Institute of Diabetes and Digestive and Kidney diseases workshop. Pancreas, 2014, 43(8): 1163-1171.
35.	Bellin MD, Freeman ML, Gelrud A, et al. Total pancreatectomy and islet autotransplantation in chronic pancreatitis: recommendations from PancreasFest. Pancreatology, 2014, 14(1): 27-35.
36.	Kargl S, Kienbauer M, Duba HC, et al. Therapeutic step-up strategy for management of hereditary pancreatitis in children. J Pediatr Surg, 2015, 50(4): 511-514.
37.	Ceppa EP, Pitt HA, Hunter JL, et al. Hereditary pancreatitis: endoscopic and surgical management. J Gastrointest Surg, 2013, 17(5): 847-856.

1. Comfort MW, Steinberg AG. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology, 1952, 21(1): 54-63.
2. Whitcomb DC, Gorry MC, Preston RA, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet, 1996, 14(2): 141-145.
3. Németh BC, Sahin-Tóth M. Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis. Am J Physiol Gastrointest Liver Physiol, 2014, 306(6): G466-G473.
4. Patel J, Madan A, Gammon A, et al. Rare hereditary cause of chronic pancreatitis in a young male: SPINK1 mutation. Pan Afr Med J, 2017, 28: 110.
5. Hegyi P, Wilschanski M, Muallem S, et al. CFTR: A new horizon in the pathomechanism and treatment of pancreatitis. Rev Physiol Biochem Pharmacol, 2016, 170: 37-66.
6. Paliwal S, Bhaskar S, Mani KR, et al. Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants. Gut, 2013, 62(11): 1602-1606.
7. Szabó A, Ludwig M, Hegyi E, et al. Mesotrypsin signature mutation in a chymotrypsin C (CTRC) variant associated with chronic pancreatitis. J Biol Chem, 2015, 290(28): 17282-17292.
8. Witt H, Beer S, Rosendahl J, et al. Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nat Genet, 2013, 45(10): 1216-1220.
9. Raphael KL, Willingham FF. Hereditary pancreatitis: current perspectives. Clin Exp Gastroenterol, 2016, 9: 197-207.
10. Kujko AA, Berki DM, Oracz G, et al. A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis. Gut, 2017, 66(9): 1728-1730.
11. Németh BC, Patai ÁV, Sahin-Tóth M, et al. Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis. Gut, 2017, 66(9): 1727-1728.
12. Rebours V, Boutron-Ruault MC, Schnee M, et al. The natural history of hereditary pancreatitis: a national series. Gut, 2009, 58(1): 97-103.
13. Yadav D, Lowenfels AB. The epidemiology of pancreatitis and pancreatic cancer. Gastroenterology, 2013, 144(6): 1252-1261.
14. 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. Dig Liver Dis, 2015, 47(8): 709-714.
15. Hegyi E, Sahin-Tóth M. Genetic risk in chronic pancreatitis: the trypsin-dependent pathway. Dig Dis Sci, 2017, 62(7): 1692-1701.
16. Jancsó Z, Sahin-Tóth M. Tighter control by chymotrypsin C (CTRC) explains lack of association between human anionic trypsinogen and hereditary pancreatitis. J Biol Chem, 2016, 291(25): 12897-12905.
17. Raphael KL, Willingham FF. Hereditary pancreatitis: current perspectives. Clin Exp Gastroenterol, 2016, 9: 197-207.
18. Grocock CJ, Rebours V, Delhaye MN, et al. The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families. Gut, 2010, 59(3): 357-363.
19. Corleto VD, Gambardella S, Gullotta F, et al. New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an " Hereditary” form of pancreatitis ? BMC Gastroenterol, 2010, 10: 119.
20. Rebours V, Boutron-Ruault MC, Schnee M, et al. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Am J Gastroenterol, 2008, 103(1): 111-119.
21. Patel MR, Eppolito AL, Willingham FF. Hereditary pancreatitis for the endoscopist. Therap Adv Gastroenterol, 2013, 6(2): 169-179.
22. Fink EN, Kant JA, Whitcomb DC. Genetic counseling for nonsyndromic pancreatitis. Gastroenterol Clin North Am, 2007, 36(2): 325-333.
23. Ellis I, Lerch MM, Whitcomb DC. Genetic testing for hereditary pancreatitis: guidelines for indications, counselling, consent and privacy issues. Pancreatology, 2001, 1(5): 405-415.
24. Teich N, Bauer N, Mössner J, et al. Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. Am J Gastroenterol, 2002, 97(2): 341-346.
25. Konzen KM, Perrault J, Moir C, et al. Long-term follow-up of young patients with chronic hereditary or idiopathic pancreatitis. Mayo Clin Proc, 1993, 68(5): 449-453.
26. Patel MR, Eppolito AL, Willingham FF. Hereditary pancreatitis for the endoscopist. Therap Adv Gastroenterol, 2013, 6(2): 169-179.
27. Mekitarian Filho E, Carvalho WB, Silva FD. Acute pancreatitis in pediatrics: a systematic review of the literature. J Pediatr (Rio J), 2012, 88(2): 101-114.
28. Uomo G, Talamini G, Rabitti PG. Antioxidant treatment in hereditary pancreatitis. A pilot study on three young patients. Dig Liver Dis, 2001, 33(1): 58-62.
29. Oracz G, Pertkiewicz J, Kierkus J, et al. Efficiency of pancreatic duct stenting therapy in children with chronic pancreatitis. Gastrointest Endosc, 2014, 80(6): 1022-1029.
30. Okolo PI 3rd, Pasricha PJ, Kalloo AN. What are the long-term results of endoscopic pancreatic sphincterotomy? Gastrointest Endosc, 2000, 52(1): 15-19.
31. Rösch T, Daniel S, Scholz M, et al. Endoscopic treatment of chronic pancreatitis: a multicenter study of 1 000 patients with long-term follow-up. Endoscopy, 2002, 34(10): 765-771.
32. Li ZS, Wang W, Liao Z, et al. A long-term follow-up study on endoscopic management of children and adolescents with chronic pancreatitis. Am J Gastroenterol, 2010, 105(8): 1884-1892.
33. Parsi MA, Stevens T, Lopez R, et al. Extracorporeal shock wave lithotripsy for prevention of recurrent pancreatitis caused by obstructive pancreatic stones. Pancreas, 2010, 39(2): 153-155.
34. Bellin MD, Gelrud A, Arreaza-Rubin G, et al. Total pancreatectomy with islet autotransplantation: summary of a National Institute of Diabetes and Digestive and Kidney diseases workshop. Pancreas, 2014, 43(8): 1163-1171.
35. Bellin MD, Freeman ML, Gelrud A, et al. Total pancreatectomy and islet autotransplantation in chronic pancreatitis: recommendations from PancreasFest. Pancreatology, 2014, 14(1): 27-35.
36. Kargl S, Kienbauer M, Duba HC, et al. Therapeutic step-up strategy for management of hereditary pancreatitis in children. J Pediatr Surg, 2015, 50(4): 511-514.
37. Ceppa EP, Pitt HA, Hunter JL, et al. Hereditary pancreatitis: endoscopic and surgical management. J Gastrointest Surg, 2013, 17(5): 847-856.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Research status of hereditary pancreatitis

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