Hereditary pancreatitis causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Iqra Qamar M.D.[2]

Overview

Hereditary pancreatitis may be caused by mutation in any one of the following genes PRSS1, SPINK1, CFTR and CTRC gene.

Causes

References

  1. ↑ Whitcomb DC (2010). "Genetic aspects of pancreatitis". Annu. Rev. Med. 61: 413–24. doi:10.1146/annurev.med.041608.121416. PMID 20059346.
  2. ↑ 2.0 2.1 Witt H, Luck W, Becker M (1999). "A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis". Gastroenterology. 117 (1): 7–10. PMID 10381903.
  3. ↑ Creighton J, Lyall R, Wilson DI, Curtis A, Charnley R (1999). "Mutations of the cationic trypsinogen gene in patients with chronic pancreatitis". Lancet. 354 (9172): 42–3. doi:10.1016/S0140-6736(99)01814-0. PMID 10406366.
  4. ↑ Kereszturi E, Szmola R, Kukor Z, Simon P, Weiss FU, Lerch MM, Sahin-Tóth M (2009). "Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism". Hum. Mutat. 30 (4): 575–82. doi:10.1002/humu.20853. PMC 2663013. PMID 19191323.
  5. ↑ Sahin-Tóth M (1999). "Hereditary pancreatitis-associated mutation asn(21) --> ile stabilizes rat trypsinogen in vitro". J. Biol. Chem. 274 (42): 29699–704. PMID 10514442.
  6. ↑ Teich N, Ockenga J, Hoffmeister A, Manns M, Mössner J, Keim V (2000). "Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation". Gastroenterology. 119 (2): 461–5. PMID 10930381.
  7. ↑ 7.0 7.1 Teich N, Bauer N, Mössner J, Keim V (2002). "Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants". Am. J. Gastroenterol. 97 (2): 341–6. doi:10.1111/j.1572-0241.2002.05467.x. PMID 11866271.
  8. ↑ Grocock CJ, Rebours V, Delhaye MN, Andrén-Sandberg A, Weiss FU, Mountford R, Harcus MJ, Niemczyck E, Vitone LJ, Dodd S, Jørgensen MT, Ammann RW, Schaffalitzky de Muckadell O, Butler JV, Burgess P, Kerr B, Charnley R, Sutton R, Raraty MG, Devière J, Whitcomb DC, Neoptolemos JP, Lévy P, Lerch MM, Greenhalf W (2010). "The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families". Gut. 59 (3): 357–63. doi:10.1136/gut.2009.186817. PMID 19951905.
  9. ↑ Rebours V, Boutron-Ruault MC, Schnee M, Férec C, Le Maréchal C, Hentic O, Maire F, Hammel P, Ruszniewski P, Lévy P (2009). "The natural history of hereditary pancreatitis: a national series". Gut. 58 (1): 97–103. doi:10.1136/gut.2008.149179. PMID 18755888.
  10. ↑ 10.0 10.1 DiMagno MJ, DiMagno EP (2005). "Chronic pancreatitis". Curr. Opin. Gastroenterol. 21 (5): 544–54. PMID 16093768.
  11. ↑ Applebaum-Shapiro SE, Finch R, Pfützer RH, Hepp LA, Gates L, Amann S, Martin S, Ulrich CD, Whitcomb DC (2001). "Hereditary pancreatitis in North America: the Pittsburgh-Midwest Multi-Center Pancreatic Study Group Study". Pancreatology. 1 (5): 439–43. PMID 12120221.
  12. ↑ Howes N, Greenhalf W, Stocken DD, Neoptolemos JP (2004). "Cationic trypsinogen mutations and pancreatitis". Gastroenterol. Clin. North Am. 33 (4): 767–87. doi:10.1016/j.gtc.2004.07.003. PMID 15528017.
  13. ↑ Whitcomb DC (2004). "Value of genetic testing in the management of pancreatitis". Gut. 53 (11): 1710–7. doi:10.1136/gut.2003.015511. PMC 1774302. PMID 15479696.
  14. ↑ Schwarzenberg SJ, Bellin M, Husain SZ, Ahuja M, Barth B, Davis H, Durie PR, Fishman DS, Freedman SD, Gariepy CE, Giefer MJ, Gonska T, Heyman MB, Himes R, Kumar S, Morinville VD, Lowe ME, Nuehring NE, Ooi CY, Pohl JF, Troendle D, Werlin SL, Wilschanski M, Yen E, Uc A (2015). "Pediatric chronic pancreatitis is associated with genetic risk factors and substantial disease burden". J. Pediatr. 166 (4): 890–896.e1. doi:10.1016/j.jpeds.2014.11.019. PMC 4380827. PMID 25556020.
  15. ↑ Fink EN, Kant JA, Whitcomb DC (2007). "Genetic counseling for nonsyndromic pancreatitis". Gastroenterol. Clin. North Am. 36 (2): 325–33, ix. doi:10.1016/j.gtc.2007.03.007. PMID 17533082.
  16. ↑ Pfützer RH, Barmada MM, Brunskill AP, Finch R, Hart PS, Neoptolemos J, Furey WF, Whitcomb DC (2000). "SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis". Gastroenterology. 119 (3): 615–23. PMID 10982753.
  17. ↑ Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, Landt O, Becker M (2000). "Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis". Nat. Genet. 25 (2): 213–6. doi:10.1038/76088. PMID 10835640.
  18. ↑ Schneider A, Barmada MM, Slivka A, Martin JA, Whitcomb DC (2004). "Clinical characterization of patients with idiopathic chronic pancreatitis and SPINK1 Mutations". Scand. J. Gastroenterol. 39 (9): 903–4. doi:10.1080/00365520410006710. PMID 15513391.
  19. ↑ Rowntree RK, Harris A (2003). "The phenotypic consequences of CFTR mutations". Ann. Hum. Genet. 67 (Pt 5): 471–85. PMID 12940920.
  20. ↑ Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS (1998). "Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis". N. Engl. J. Med. 339 (10): 653–8. doi:10.1056/NEJM199809033391002. PMID 9725922.
  21. ↑ Ooi CY, Dorfman R, Cipolli M, Gonska T, Castellani C, Keenan K, Freedman SD, Zielenski J, Berthiaume Y, Corey M, Schibli S, Tullis E, Durie PR (2011). "Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis". Gastroenterology. 140 (1): 153–61. doi:10.1053/j.gastro.2010.09.046. PMID 20923678.
  22. ↑ Cohn JA, Mitchell RM, Jowell PS (2005). "The impact of cystic fibrosis and PSTI/SPINK1 gene mutations on susceptibility to chronic pancreatitis". Clin. Lab. Med. 25 (1): 79–100. doi:10.1016/j.cll.2004.12.007. PMID 15749233.
  23. ↑ Schneider A, Larusch J, Sun X, Aloe A, Lamb J, Hawes R, Cotton P, Brand RE, Anderson MA, Money ME, Banks PA, Lewis MD, Baillie J, Sherman S, Disario J, Burton FR, Gardner TB, Amann ST, Gelrud A, George R, Rockacy MJ, Kassabian S, Martinson J, Slivka A, Yadav D, Oruc N, Barmada MM, Frizzell R, Whitcomb DC (2011). "Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis". Gastroenterology. 140 (1): 162–71. doi:10.1053/j.gastro.2010.10.045. PMC 3171690. PMID 20977904.
  24. ↑ LaRusch J, Whitcomb DC (2011). "Genetics of pancreatitis". Curr. Opin. Gastroenterol. 27 (5): 467–74. doi:10.1097/MOG.0b013e328349e2f8. PMC 3704192. PMID 21844754.
  25. ↑ Weiss FU, Simon P, Bogdanova N, Mayerle J, Dworniczak B, Horst J, Lerch MM (2005). "Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls". Gut. 54 (10): 1456–60. doi:10.1136/gut.2005.064808. PMC 1774703. PMID 15987793.
  26. ↑ Cohn JA, Neoptolemos JP, Feng J, Yan J, Jiang Z, Greenhalf W, McFaul C, Mountford R, Sommer SS (2005). "Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers". Hum. Mutat. 26 (4): 303–7. doi:10.1002/humu.20232. PMID 16134171.
  27. ↑ Bertin C, Pelletier AL, Vullierme MP, Bienvenu T, Rebours V, Hentic O, Maire F, Hammel P, Vilgrain V, Ruszniewski P, Lévy P (2012). "Pancreas divisum is not a cause of pancreatitis by itself but acts as a partner of genetic mutations". Am. J. Gastroenterol. 107 (2): 311–7. doi:10.1038/ajg.2011.424. PMID 22158025.
  28. ↑ Gelrud A, Sheth S, Banerjee S, Weed D, Shea J, Chuttani R, Howell DA, Telford JJ, Carr-Locke DL, Regan MM, Ellis L, Durie PR, Freedman SD (2004). "Analysis of cystic fibrosis gener product (CFTR) function in patients with pancreas divisum and recurrent acute pancreatitis". Am. J. Gastroenterol. 99 (8): 1557–62. doi:10.1111/j.1572-0241.2004.30834.x. PMID 15307877.
  29. ↑ Rosendahl J, Landt O, Bernadova J, Kovacs P, Teich N, Bödeker H, Keim V, Ruffert C, Mössner J, Kage A, Stumvoll M, Groneberg D, Krüger R, Luck W, Treiber M, Becker M, Witt H (2013). "CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?". Gut. 62 (4): 582–92. doi:10.1136/gutjnl-2011-300645. PMID 22427236.
  30. ↑ Rosendahl J, Witt H, Szmola R, Bhatia E, Ozsvári B, Landt O, Schulz HU, Gress TM, Pfützer R, Löhr M, Kovacs P, Blüher M, Stumvoll M, Choudhuri G, Hegyi P, te Morsche RH, Drenth JP, Truninger K, Macek M, Puhl G, Witt U, Schmidt H, Büning C, Ockenga J, Kage A, Groneberg DA, Nickel R, Berg T, Wiedenmann B, Bödeker H, Keim V, Mössner J, Teich N, Sahin-Tóth M (2008). "Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis". Nat. Genet. 40 (1): 78–82. doi:10.1038/ng.2007.44. PMC 2650829. PMID 18059268.
  31. ↑ Masson E, Chen JM, Scotet V, Le Maréchal C, Férec C (2008). "Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis". Hum. Genet. 123 (1): 83–91. doi:10.1007/s00439-007-0459-3. PMID 18172691.
  32. ↑ LaRusch J, Lozano-Leon A, Stello K, Moore A, Muddana V, O'Connell M, Diergaarde B, Yadav D, Whitcomb DC (2015). "The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population". Clin Transl Gastroenterol. 6: e68. doi:10.1038/ctg.2014.13. PMC 4418406. PMID 25569187.
  33. ↑ Beer S, Zhou J, Szabó A, Keiles S, Chandak GR, Witt H, Sahin-Tóth M (2013). "Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk". Gut. 62 (11): 1616–24. doi:10.1136/gutjnl-2012-303090. PMC 3660471. PMID 22942235.

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