Gene Mutations in Children with Chronic Pancreatitis

Pancreatology

Volumn 1, Issue 5, 2001, Pages 432-438

  Witt, Heiko ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

Author keywords

Children; Chronic pancreatitis; Cystic fibrosis transmembrane conductance regulator; Genetic testing; PRSS1; Serine protease inhibitor, Kazal type 1; 1 Antitrypsin

Indexed keywords

ALPHA 1 ANTITRYPSIN; CFTR PROTEIN, HUMAN; PRSS1 PROTEIN, HUMAN; SERINE PROTEINASE INHIBITOR; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSIN; TRYPSINOGEN;

CHILD; CHRONIC DISEASE; GENETICS; HUMAN; MUTATION; PANCREATITIS; REVIEW;

ALPHA 1-ANTITRYPSIN; CHILD; CHRONIC DISEASE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; MUTATION; PANCREATITIS; SERINE PROTEINASE INHIBITORS; TRYPSIN; TRYPSINOGEN;

EID: 0035553706     PISSN: 14243903     EISSN: 14243911     Source Type: Journal    
DOI: 10.1159/000055843     Document Type: Article

References (32)

1. Comfort MW, Steinberg AG: Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology 1952;21:54-63.
2. Andersen BN, Pedersen NT, Scheel J, Worning H: Incidence of alcoholic chronic pancreatitis in Copenhagen. Scand J Gastroenterol 1982;17:247-252.
3. Ammann RW, Bühler H, Münch R, Freiburghaus AW, Siegenthaler W: Differences in the natural history of idiopathic (nonalcoholic) and alcoholic chronic pancreatitis. A comparative long-term study of 287 patients. Pancreas 1987;2:368-377.
4. Lerner A, Branski D, Lebenthal E: Pancreatic diseases in children. Pediatr Clin North Am 1996;43:125-156.
5. Chiari H: Über Selbstverdauung des menschlichen Pankreas. Z Heilkd 1896;17:69-96.
6. Steer ML, Meldolesi J: The cell biology of experimental pancreatitis. N Engl J Med 1987;316:144-150.
7. Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, Martin SP, Gates LJ, Amann ST, Toskes PP, Liddle R, McGrath K, Uomo G, Post JC, Ehrlich GD: Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996;14:141-145.
8. Gorry MC, Gabbaizedeh D, Furey W, Gates LK, Preston RA, Aston CE, Zhang Y, Ulrich C, Ehrlich GD, Whitcomb DC: Mutations in the cationic trypsinogcn gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 1997;113:1063-1068.
9. Teich N, Mössner J, Keim V: Mutations of the cationic trypsinogen in hereditary pancreatitis. Hum Mutat 1998;12:39-43.
10. Férec C, Raguénès O, Salomon R, Roche C, Bernard JP, Guillot M, Quéré I, Faure C, Mercier B, Audrézet MP, Guillausseau PJ, Dupont C, Munnich A, Bignon JD, Le Bodic L: Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. J Med Genet 1999;36:228-232.
11. Witt H, Luck W, Becker M: A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. Gastroenterology 1999;117:7-10.
12. Teich N, Ockenga J, Hoffmeister A, Manns M, Mössner J, Keim V: Chronic pancreatitis associated with an activation pcptidc mutation that facilitates tiypsin activation. Gastroenterology 2000;119:461-465.
13. Sahin-Tóth M, Tóth M: Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen. Biochem Biophys Res Commun 2000;278:286-289.
14. Kazal LA, Spicer DS, Brahinsky RA: Isolation of a crystalline trypsin inhibitor-anticoagulant protein from the pancreas. J Am Chem Soc 1948;70:304-340.
15. Laskowski M, Wu FC: Temporary inhibition of trypsin. J Biol Chem 1953;204:797-805.
16. Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, Landt O, Becker M: Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000;25:213-216.
17. Pfützer RH, Barmada NM, Brunskill APJ, Finch R, Hart PS, Neoptolemos J, Furey WF, Whitcomb DC: SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000;119:615-623.
18. Owyang C, Levitt M: Chronic pancreatitis; in Yamada T (ed): Textbook of Gastroenterology, ed 2. Philadelphia, Lippincott, 1991, pp 1874-1893.
19. Witt H, Hennies HC, Becker M: SPINK1 mutations in chronic pancreatitis. Gastroenterology 2001;120:1060-1061.
20. Shwachman H, Lebenthal E, Khaw KT: Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes. Pediatrics 1975;55:86-94.
21. Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS: Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998;339:653-658.
22. Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Braganza J: Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339:645-652.
23. 1-Antitrypsin deficiency in Europe: Geographical distribution of Pi types S and Z. Respir Med 1998;92:367-377.
24. Novis BH, Young GO, Bank S, Marks IN: Chronic pancreatitis and alpha-1-antitrypsin. Lancet 1975;ii:748-749.
25. 1-antitrypsin and chronic pancreatitis. Lancet 1976;ii:1032-1033.
26. 1-antitrypsin in pancreatitis. Digestion 1982;23:93-96.
27. 1-Antitrypsin in pancreatic diseases. Digestion 1978;18:138-140.
28. 1 Antitrypsin phenotypes and alcoholic pancreatitis. Gut 1991;32:945-948.
29. Laskowski M Jr, Kato I: Protein inhibitors of proteinases. Annu Rev Biochem 1980;49:593-626.
30. Rinderknecht H: Activation of pancreatic zymogens. Normal activation, premature intrapancreatic activation, protective mechanisms against inappropriate activation. Dig Dis Sci 1986;31:314-321.
31. Freedman SD, Blanco P, Shea JC, Alvarez JG: Mechanisms to explain pancreatic dysfunction in cystic fibrosis. Gastroenterol Clin North Am 2000;84:657-664.
32. Lerch MM, Gorelick FS: Early trypsinogen activation in acute pancreatitis. Gastroenterol Clin North Am 2000;84:549-563.