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Vol. 27. Núm. 1.
Páginas 27-34 (enero 2004)
Vol. 27. Núm. 1.
Páginas 27-34 (enero 2004)
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Pancreatitis hereditaria
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14500
J. Martínez Sempere
, M. Pérez-Mateo
Autor para correspondencia
martinez_juasem@gva.es
Correspondencia: J. Martínez Sempere. Servicio de Medicina Interna. Sección de Digestivo. Hospital General Universitario de Alicante. Pintor Baeza, s/n. 03010 Alicante. España.
Correspondencia: J. Martínez Sempere. Servicio de Medicina Interna. Sección de Digestivo. Hospital General Universitario de Alicante. Pintor Baeza, s/n. 03010 Alicante. España.
Sección de Aparato Digestivo. Hospital General Universitario de Alicante. Alicante. España
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Biblografía
[1.]
J. Perrault.
Hereditary pancreatitis: historical perspectives.
Med Clin North Am, 84 (2000), pp. 519-529
[2.]
M.W. Comfort, A.G. Steiberg.
Pedigree of a family with hereditary chronic relapsing pancreatitis.
Gastroenterology, 21 (1952), pp. 54-63
[3.]
L. Le Bodic, M. Schnee, T. Georgelin, et al.
An exceptional genealogy for hereditary chronic pancreatitis.
Dig Dis Sci, 41 (1996), pp. 1504-1510
[4.]
M.J. Sossenheimer, C.E. Aston, R.A. Preston, et al.
Clinical characteristics of hereditary pancreatitis in a large family, based on high risk haplotype.
Am J Gastroenterol, 93 (1997), pp. 1113-1116
[5.]
I. Le Bodie, J.D. Bignon, O. Raguenes, et al.
The hereditary pancreatitis gene maps to long arm of chromosome 7.
Hum Mol Genet, 5 (1996), pp. 549-554
[6.]
D.C. Whitcomb, R.A. Preston, C.E. Aston, et al.
A gene for hereditary pancreatitis maps to chromosome 7q35.
Gastroenterology, 110 (1996), pp. 1975-1980
[7.]
A. Pandya, S.H. Blanton, B. Landa, et al.
Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cm region on 7q.
Genomics, 38 (1996), pp. 227-230
[8.]
D.C. Withcomb, M.C. Gorry, R.A. Preston, et al.
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
Nature Genet, 14 (1996), pp. 141-145
[9.]
M.C. Gorry, D. Gabbaizedeh, W. Furey, et al.
Mutations in the cationic trypsinogen gene are associated with chronic pancreatitis.
Gastroenterology, 113 (1997), pp. 1063-1068
[10.]
H. Witt, W. Luck, M. Becker.
A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.
Gastroenterology, 117 (1999), pp. 7-10
[11.]
N. Teich, J. Ockenga, A. Hoffmeister, et al.
Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation.
Gastroenterology, 119 (2000), pp. 461-465
[12.]
C. Ferec, O. Raguenes, R. Salomon, et al.
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.
Med Genet, 36 (1999), pp. 228-232
[13.]
N. Teich, N. Bauer, J. Mossner, V. Keim.
Mutational screening of patients with nonalcoholic chronic pancreatitis: identifications of further trypsinogen variants.
Am J Gastroenterol, 97 (2002), pp. 341-346
[14.]
R. Pfutzer, E. Myers, S. Applebaum-Shapiro, et al.
Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.
Gut, 50 (2002), pp. 271-272
[15.]
C. Le Marechal, J.F. Bretagne, O. Raguenes, et al.
Identification of a novel pancreatitis-missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1).
Mol Genet Metab, 74 (2001), pp. 342-344
[16.]
C. Le Marechal, J.M. Chen, I. Quere, et al.
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen gene (PRSS1) by denaturing high performance liquid chromatography.
BMC Genet, 2 (2001), pp. 19
[17.]
F. Ochi, M. Fujii, T. Sakai, et al.
A case of acute pancreatitis associated with cationic trypsinogen N29T mutation.
Pancreas, 27 (2003), pp. 199-200
[18.]
P. Simon, F.U. Weiss, M. Sahin-Toht, et al.
Hereditary pancreatitis cause by a novel PRSS1 mutation (Arg122→Cys) that alters autoactivation and autodegradation of cationic trypsinogen.
J Biol Chem, 277 (2002), pp. 5404-5410
[19.]
N. Howes, W. Greenhalf, M.M. Lerch, et al.
Clinical and genetic characteristics of patients with hereditary pancreatitis (HP) in Europe. 33rd European Pancreatic Club Meeting June 2001.
Pancreatology, 1 (2001), pp. 189
[20.]
S.E. Applebaum-Shapiro, R. Finch, R.H. Pfutzer, et al.
Hereditary pancreatitis in North America: The Pittsburgh-Midwest multicenter pancreatic group study.
Pancreatology, 1 (2001), pp. 439-443
[21.]
M. Bartness, C.E. Aston, M. Barmada, et al.
Potential linkage of a pancreatitis associated gene to chromosome 12.
Pancreas, 17 (1998), pp. 426
[22.]
M. Dasouki, J. Cogan, M. Summar, et al.
Heterogeneity in hereditary pancreatitis.
Am J Med Genet, 77 (1998), pp. 47-53
[23.]
H. Witt.
Gene mutations in children with chronic pancreatitis.
Pancreatology, 1 (2001), pp. 432-438
[24.]
P. Simon, F.U. Weiss.
Spontaneous and sporadic trypsinogen mutations in idiopathic pancreatitis.
JAMA, 288 (2002), pp. 2122
[25.]
S. Hubbard, F. Eisenmerger, J. Thornton.
Modeling studies of the change in conformation required for cleavage of limited proteolytic sites.
Protein Sci, 3 (1994), pp. 757-768
[26.]
D.C. Whitcomb.
The spectrum of complications of hereditary pancreatitis Is this a model for future gene therapy?.
Gastroenterol Clin North Am, 28 (1999), pp. 525-541
[27.]
H. Rinderknecht, et al.
Pancreatic secretory enzymes.
The Pancreas: Biology, Pathobiology, and Disease 2nd e.d, pp. 219-251
[28.]
J.M. Chen, M.P. Audrezet, B. Mercier, I. Quere, C. Ferec.
Exclusion of anionic trypsinogen and mesotrypsinogen involvement in hereditary pancreatitis without cationic trypsinogen gene mutations.
Scand J Gastroenterol, 34 (1999), pp. 831-832
[29.]
P. Mithofer, C. Fernandez-del-Castillo, D.W. Rattner, et al.
Subcellular kinetics of early trypsinogen activation in acute rodent pancreatitis.
Am J Physiol, 274 (1998), pp. G71-G79
[30.]
D.C. Whitcomb.
Acute pancreatitis: mechanisms of cell injurygenetics.
Pancreatic Disease - State of the Art and Future Aspects of Research, pp. 3-13
[31.]
N. Howes, W. Greenhalf, M.M. Lerch, et al.
Clinical and genetic characteristics of patients with hereditary pancreatitis in Europe.
Pancreatology, 1 (2001), pp. 189
[32.]
J.E. Creighton, R. Lyall, D.I. Wilson, A. Curtis, R.M. Charnley.
Mutations of the trypsinogen gene in patients with hereditary pancreatitis.
Br J Surg, 87 (2000), pp. 170-175
[33.]
V. Keim, N. Bauer, N. Teich, P. Simon, M.M. Lerch, J. Mössner.
Clinical characterization of patients with hereditary pancreatitis and mutations in the cationic trypsinogen gene.
Am J Med, 111 (2001), pp. 622-626
[34.]
L. Guarner.
Pancreatitis hereditaria.
Tratado de páncreas exocrino, pp. 485-490
[35.]
B. Etemad, D.C. Whitcomb.
Chronic pancreatitis: diagnosis, classification, and new genetic developments.
Gastroenterology, 120 (2001), pp. 682-707
[36.]
O. Paolini, P. Hastier, M. Buckley, et al.
The natural history of hereditary chronic pancreatitis: a study of 12 cases compared to chronic alcoholic pancreatitis.
Pancreas, 17 (1998), pp. 266-271
[37.]
J. Perrault.
Hereditary pancreatitis.
Gastroenterol Clin Noth Am, 23 (1994), pp. 743-752
[38.]
D.C. Whitcomb.
Hereditary pancreatitis: new insights into acute and chronic pancreatitis.
Gut, 45 (1999), pp. 317-322
[39.]
D.C. Whitcomb.
How to think about SPINK in pancreatitis.
Am J Gastroenterol, 97 (2002), pp. 1085-1088
[40.]
S. Chari, E.P. Di Magno.
Chronic pancreatitis.
Curr Opin Gastroenterol, 15 (1999), pp. 398-403
[41.]
A.B. Lowenfels, P. Masonneuve, E.P. Di Magno, et al.
Hereditary pancreatitis and the risk of pancreatic cancer.
J Natl Cancer Inst, 89 (1997), pp. 442-446
[42.]
A.B. Lowenfels, P. Maisonneuve, G. Cavallini, et al.
Pancreatitis and the risk of pancreatic cancer. International Pancreatitis Study Group.
N Engl J Med, 328 (1993), pp. 1433-1437
[43.]
A.B. Lowenfels, P. Maisonneuve, D.C. Whitcomb, M.M. Lerch, E.P. Di-Magno.
Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis.
JAMA, 286 (2001), pp. 169-170
[44.]
S. Kern.
Molecular genetic alterations in ductal pancreatic adenocarcinomas.
Med Clin North Am, 84 (2000), pp. 691-695
[45.]
Ulrich ChD.
Growth factors, receptors, and molecular alterations in pancreatic cancer: Putting it all together.
Med Clin North Am, 84 (2000), pp. 697-705
[46.]
X. Shi, H. Friess, J. Kleeff, F. Ozawa, M.W. Büchler.
Pancreatic cancer: factors regulating tumor development, maintenance and metastasis.
Pancreatology, 1 (2001), pp. 517-524
[47.]
Ulrich ChD.
Pancreatic cancer in hereditary pancreatitis: consensus guidelines for prevention, screening and treatment.
Pancreatology, 1 (2001), pp. 416-422
[49.]
B. Davis, A.M. Lowy.
Surgical management of hereditary pancreatic cancer.
Med Clin North Am, 84 (2000), pp. 749-759
[50.]
I. Ellis, M. Lerch, D.C. Whitcomb.
Genetic testing for hereditary pancreatitis: guidelines for indications, counselling, consent and privacy.
Pancreatology, 1 (2001), pp. 405-415
[51.]
S.E. Applebaum, J.A. Kant, D.C. Whitcomb, I.H. Ellis.
Genetic testing, counselling, laboratory and regulatory issues and the EUROPAC protocol for ethical research in multicenter studies of inherited pancreatic diseases.
Med Clin North Am, 84 (2000), pp. 575-588
[52.]
J. Creighton, R. Lyall, D.I. Wilson, A. Curtis, R. Charnley.
Mutations of the cationic trypsinogen gene in patients with chronic pancreatitis.
Lancet, 354 (1999), pp. 42-43
[53.]
K. Truninger, J. Köck, H.P. Wirth, et al.
Trypsinogen gene mutations in patients with chronic or recurrent acute pancreatitis.
Pancreas, 22 (2001), pp. 18-23
[54.]
C.h.P. Choudari, N.J. Nicki, E. Fogel, G.A. Lehman, S. Sherman.
Hereditary pancreatitis: clinical presentation, ERCP findings, and outcome of endoscopic therapy.
Gastrointest Endosc, 56 (2002), pp. 66-71
[55.]
R. McCloy.
Chronic Pancreatitis at Manchester, UK. Focus on antioxidant therapy.
Digestion, 59 (1998), pp. 36-48
[56.]
G. Uomo, G. Talamini, P.G. Rabitti.
Antioxidant treatment in hereditary pancreatitis. A pilot study on three young patients.
Dig Liver Dis, 33 (2001), pp. 58-62
[57.]
P. Mathew, R. Wyllie, F. Van Lente, et al.
Antioxidants in hereditary pancreatitis.
Am J Gastroenterol, 91 (1996), pp. 1558-1562
[58.]
H. Rinderknecht, N.F. Adham, I.G. Renner, et al.
A possible zymogen self-destruct mechanism preventing pancreatic autodigestion.
Int J Pancreatol, 3 (1988), pp. 33-44
[59.]
J.M. Chen, B. Mercier, M.P. Audrezet, et al.
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.
J Med Genet, 37 (2000), pp. 67-69
[60.]
R.H. Pfützer, M.M. Barmada, A.P.J. Brunskill, et al.
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.
Gastroenterology, 119 (2000), pp. 615-623
[61.]
H. Witt, W. Luck, H.C. Hennies, et al.
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
Nature Genet, 25 (2000), pp. 213-216
[62.]
J.P.H. Drenth, R. Te Morsche, J.B.M.J. Jansen.
Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.
Gut, 50 (2002), pp. 687-692
[63.]
K. Truninger, H. Witt, J. Köck, et al.
Mutations of the serine protease inhibitor, Kazal type 1 gene, in patients with idiopathic chronic pancreatitis.
Am J Gastroenterol, 97 (2002), pp. 1133-1137
[64.]
J. Threadgold, W. Greenhalf, I. Ellis, et al.
The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease.
Gut, 50 (2002), pp. 675-681
[65.]
E. Gaia, P. Salacone, M. Gallo, et al.
Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.
Dig Dis Sci, 47 (2002), pp. 2416-2421
[66.]
J.M. Chen, B. Mercier, M.P. Audrezet, O. Raguenes, I. Quere, C. Ferec.
Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis.
Gastroenterology, 120 (2001), pp. 1061-1064
[67.]
H. Witt, W. Luck, M. Becker.
Mutation in the SPINK1 trypsin inhibitor gene, alcohol use, and chronic pancreatitis.
JAMA, 285 (2001), pp. 2716-2717
[68.]
L. Rossi, R.L. Pfützer, S. Parrin, et al.
SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh. A preliminary report.
Pancreatology, 1 (2001), pp. 242-245
[69.]
A. Schneider, A. Suman, L. Rossi, et al.
SPINK1/PSTI mutations are associated with tropical pancreatitis and type II diabetes mellitus in Bangladesh.
Gastroenterology, 123 (2002), pp. 1026-1030
[70.]
R.H. Pfützer, E. Myers, R. Finch, S. Applebaum-Shapiro, L. Chensny, D.C. Whitcomb.
SPINK1 mutations modify phenotypic expression in hereditary pancreatitis caused by cationic trypsinogen (PRSS1) mutations R122H and N29I.
Gastroenterology, 120 (2001), pp. A33
[71.]
R.H. Pfützer, D.C. Withcomb.
SPINK1 mutations are associated with multiple phenotypes.
Pancreatology, 1 (2001), pp. 457-460
[72.]
J.C. Penalva, J. Martínez, E. Pascual, et al.
Chronic pancreatitis associated with systemic lupus erithematous in a young girl.
Pancreas, 27 (2003), pp. 275-277
[73.]
B. Kerm, J.M. Rommens, J.A. Buchanan, et al.
Identification of the cystic fibrosis gene: genetic analysis.
Science, 245 (1989), pp. 1073-1080
[74.]
The Cystic Fibrosis Genotype-Phenotype Consortium.
Correlation between genotype and phenotype in patients with cystic fibrosis.
N Engl J Med, 329 (1993), pp. 1308-1313
[75.]
C.P. Choudari, G.A. Lehman, S. Sherman.
Pancreatitis and cystic fibrosis gene mutations.
Gastroenterol Clin North Am, 28 (1999), pp. 543-549
[76.]
C. Durno, M. Corey, J. Zielenski, E. Tullis, T. Lap-Chee.
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.
Gastroenterology, 123 (2002), pp. 1857-1864
[77.]
C.P. Choudari, A.C. Yu, T.F. Imperiale, et al.
Significance of heterozygous cystic fibrosis gene (cystic fibrosis transmembrane conductance regulator mutations) in idiopathic pancreatitis.
Gastroenterology, 114 (1998), pp. A1818
[78.]
J.A. Cohn, K.J. Friedman, P.G. Noone, et al.
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.
N Engl J Med, 339 (1998), pp. 653-658
[79.]
N. Sharer, M. Schwarz, G. Malone, et al.
Mutation of the cystic fibrosis gene in patients with chronic pancreatitis.
N Engl J Med, 339 (1998), pp. 645-652
[80.]
M. Gómez Lira, C. Patuzzo, C. Castellani, P. Bovo, G. Cavallini, G. Mastella, et al.
CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia.
Pancreatology, 1 (2001), pp. 538-542
[81.]
J. Ockenga, M. Stuhrmann, M. Ballmann, et al.
Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurret or chronic idiopathic pancreatitis.
Am J Gastroenterol, 95 (2000), pp. 2061-2067
[82.]
K. Truninger, N. Malik, R.W. Ammann, et al.
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.
Am J Gastroenterol, 96 (2001), pp. 2657-2661
[83.]
P.G. Noone, Z. Zhou, L.M. Silverman, P.S. Jowell, M.R. Knowles, J.A. Cohn.
Cystic fibrosis gene mutations and pancreatic risk: relation to epithelial ion transport and trypsin inhibitor gene mutations.
Gastroenterology, 121 (2001), pp. 1310-1319
[84.]
N. Malats, T. Casals, M. Porta, et al.
Cystic fibrosis transmembrane regulator (CFTR) ΔF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer.
Gut, 48 (2001), pp. 70-74
[85.]
T. Casals, L. Aparisi, J. Martinez, et al.
Elevada frecuencia de mutaciones CFTR en pacientes con pancreatitis cronica.
Gastroenterol Hepatol, 26 (2003), pp. 183-184
[86.]
I. Modolell, A. Alvarez, L. Guarner, J. De Gracia, J.R. Malagelada.
Gastrointestinal, liver, and pancreatic involvement in adult patients with cystic fibrosis.
Pancreas, 22 (2001), pp. 395-399
[87.]
J.H. Grendell.
Genetic factors in pancreatitis.
Curr Gastroenterol Rep, 5 (2003), pp. 105-109
[88.]
M.P. Audrezet, J.M. Chen, L.e. Marechal, et al.
Determination of the relative contribution of three genes - the cystic fibrosis transmembrane regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene - to the etiology of idiopathic chronic pancreatitis.
Eur J Hum Genet, 10 (2002), pp. 100-106
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