Cystic fibrosis and related diseases of the pancreas

Bailliere's Best Practice and Research in Clinical Gastroenterology

Volumn 16, Issue 3, 2002, Pages 511-526

  Naruse, Satoru ^a   Kitagawa, Motoji ^a   Ishiguro, Hiroshi ^a   Fujiki, Kotoyo ^a   Hayakawa, Tetsuo ^a  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Alcoholic pancreatitis; cAMP regulated Cl channel; CFTR dysfunction; CFTR mutations; CFTR related disease; Chronic pancreatitis; Cystic fibrosis (CF); Cystic fibrosis transmembrane conductance regulator (CFTR); HCO3 transport; Idiopathic pancreatitis; Pancreatic duct cells; Sweat chloride concentration; The exocrine pancreas

Indexed keywords

BICARBONATE; CHLORIDE CHANNEL; CHLORIDE ION; CYCLIC AMP; TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

CHLORIDE TRANSPORT; CHRONIC PANCREATITIS; CYSTIC FIBROSIS; EPITHELIUM CELL; GENE MUTATION; HUMAN; PANCREAS DISEASE; PANCREAS DUCT; PATHOGENESIS; PHENOTYPE; PROTEIN FUNCTION; PROTEIN POLYMORPHISM; REVIEW; WATER TRANSPORT; CHRONIC DISEASE; GENETICS; PANCREATITIS; CELL FUNCTION; DNA POLYMORPHISM; GENE STRUCTURE; GENETIC ANALYSIS; HISTOPATHOLOGY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PANCREAS FUNCTION; PROTEIN TRANSPORT; RECURRENT DISEASE; REGULATORY MECHANISM;

CHRONIC DISEASE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; PANCREATITIS;

EID: 0036598631     PISSN: 15216918     EISSN: None     Source Type: Journal    
DOI: 10.1053/bega.2002.0319     Document Type: Article

References (66)

1. Quinton P M Physiological basis of cystic fibrosis: a historical perspective Physiological Reviews 79 1999 (supplement 1) S3-S22
2. Rommens J M lannuzzi M C Kerem B-S et al. Identification of the cystic fibrosis gene: chromosome walking and jumping Science 245 1989 1059-1065
3. Riordan J R Rommens J M Kerem B-S et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA Science 245 1989 1066-1073
4. Kerem B-S Rommens J M Bucanan J A et al.Identification of the cystic fibrosis gene: genetic analysis Science 245 1989 1074-1080
5. Zielenski J Tsui L C Cystic fibrosis: genotypic and phenotypic variations Annual Review of Genetics 29 1995 777-807
6. Sheppard D N Welsh M J Structure and function of the CFTR chloride channel Physiological Reviews 79 1999 (supplement 1) S23-S45
7. Gadsby D C Nairn A C Control of CFTR channel gating by phosphorylation and nucleotide hydrolysis Physiological Reviews 79 1999 (supplement 1) S77-S107
8. Schwiebert E M Benos D J Egan M E et al CFTR is a conductance regulator as well as a chloride channel Physiological Reviews 79 1999 (supplement 1) S145-S166
9. Cystic Fibrosis Genetic Analysis Consortium 1994. Population variations of common cystic fibrosis transmembrane Human Mutation 4 1994 167-177
10. Cheng S H Gregory R J Marshall J et al. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis Cell 63 1990 827-834
11. Chu C S Trapnell B C Curristin S et al. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA Nature Genetics 3 1993 151-156
12. Cupppens H Lin W Jaspers M et al. Polyvariant mutant cystic fibrosis trasnsmembrane conductance regulator genes. The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation Journal of Clinical Investigation 101 1998 487-496
13. Stern R C The diagnosis of cystic fibrosis New England Journal of Medicine 336 1997 487-491
14. Rosenstein B J Cutting G R The diagnosis of cystic fibrosis: a consensus statement Journal of Pediatrics 132 1998 589-595
15. Cohn J A Melhus O Page L J et al. CFTR: development of high-affinity antibodies and localization in sweat gland Biochemical and Biophysical Research Communications 181 1991 36-43
16. Quinton P M Chloride impermeability in cystic fibrosis Nature 301 1983 421-422
17. Farrel P M Koscik R E Sweat chloride concentrations in infants homozygous or heterozygous for F508 cystic fibrosis Pediatrics 97 1996 524-528
18. Mickle J E Macek M Jr Fulmer-Smentek S B et al. A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis Human Molecular Genetics 7 1998 729-735
19. Highsmith E w Burch L H Ahou Z et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations New England Journal of Medicine 331 1994 974-980
20. Kristidis P Bozon D Corey M et al. Genetic determination of exocrine pancreatic function in cystic fibrosis American Journal of Human Genetics 50 1992 1178-1184
21. Oppenheimer E H Esterly J R Pathology of cystic fibrosis: review of the literature and comparison with 146 autopsied cases Perspectives in Pediatric Pathology 2 1975 241-278
22. Lebenthal E Lerner A Rolston D K The pancreas in cystic fibrosis In Go V LW et al. (Ed.), The Pancreas: Biology, Pathobiology, and Disease 1993 1041-1081 Raven Press New York
23. Strong T V Boehm K Collins F S Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization Journal of Clinical Investigation 93 1994 347-354
24. Marino C R Matovcik L M Gorelick F S Cohn J A Localization of cystic fibrosis transmembrane conductance regulator in pancreas Journal of Clinical Investigation 88 1991 712-716
25. Case R M Argent B E Pancreatic duct cell secretion: control and mechanisms of transport In Go V LW et al. (Ed) The Pancreas: Biology, Pathobiology, and Disease 1993 1041-1081 Raven Press New York
26. Ishiguro H Steward M C Wilson R W Case R M Bicarbonate secretion in interlobular ducts from guinea-pig pancreas Journal of Physiology 495 1996 179-191
27. Ishiguro H Naruse S Steward M C et al. Fluid secretion in interlobular ducts isolated from guinea-pig pancreas Journal of Physiology 511 1998 407-422
28. Naruse S Kitagawa M Ishiguro H Molecular understanding of chronic pancreatitis Molecular Medicine Today 5 1999 493-499
29. 2 permeability and bicarbonate transport in microperfused interlobular ducts isolated from guinea-pig pancreas Journal of Physiology 528 2000 305-315
30. Ishiguro, H, Naruse, S, Kitagawa, M, et al. Chloride transport in microperfused interlobular ducts isolated from guinea-pig pancreas, Journal of Physiology (London) 2000; 528: 305-315
31. Marino C R Jeanes V Boron W F Schmitt B M Expression and distribution of the Na+-HCO3- cotransporter in human pancreas American Journal of Physiology 277 1999 G487-G494
32. Novak I Greger R Properties of luminal membrane of isolated rat pancreatic ducts: effect of cyclic AMP and blockers of chloride transport Pflügers Archiv 411 1988 546-553
33. Lee M G Choi J Y Luo X et al. Cystic fibrosis transmembrane conductance regulator regulates Cl-/HCO3- exchange in mouse submandibular and pancreatic ducts Journal of Biological Chemistry 274 1999 14670-14677
34. 3- transport in a mathematical model of the pancreatic duct epithelium Journal of Membrane Biology 176 2000 77-100
35. Gray M A Pollard C E Harris A et al. Anion selectivity and block of the small-conductance chloride channel on pancreatic duct cells American Journal of Physiology 259 1990 C752-761
36. O'Reilly C M Winpenny J P Argent B E Gray A et al. Cystic fibrosis tansmembrane conductance regulator currents in guinea pig pancreatic duct cells: inhibition by bicarbonate ions Gastroenterology 118 2000 1187-1196
37. 3- transport in mutations associated with cystic fibrosis Nature 410 2001 94-97
38. Freedman S D Blanco P Shea J C Alverez J G Mechanisms to explain pancreatic dysfunction in cystic fibrosis Medical Clinics of North America 84 2000 657-664
39. Kopelmen H Corey M Gaskin K et al. Impaired chloride secretion, as well as bicarbonate secretion, underlies the fluid secretory defect in the cystic fibrosis pancreas Gastroenterology 95 1988 349-355
40. Grubb B R Boucher R C Pathophysiology of gene-targeted mouse model for cystic fibrosis Physiological Reviews 79 1999 (supplement 1) S193-214
41. Clarke L L Grubb B R Yankaskas J R et al. Relationship of a non-cystic fibrosis transmembrane conductance regulator-mediated chloride conductance to organ-level disease in Cftr(-/-) mice Proceedings of the National Academy of Sciences of the USA 91 1994 479-483
42. Zeiher B G Eichwald E Zabner J et al. A mouse model for the F508 allele of cystic fibrosis Journal of Clinical Investigation 96 1995 2051-2064
43. De Lisle R C Increased expression of sulfated gp300 and acinar tissue pathology in pancreas of CFTR(-/-) mice American Journal of Physiology 268 1995 G717-723
44. Freedman S D Kern H F Scheele G A Pancreatic acinar cell dysfunction in CFTR(-/-) mice is associated with impairments in luminal pH and endocytosis Gastroenterology 121 2001 950-957
45. Gray M A Winpenny J P Porteous D J et al. CFTR and calcium-activated chloride currents in pancreatic duct cells of a transgenic CF mouse American Journal of Physiology 226 1995 C213-221
46. Winpenny J P Harris A Hollingsworth M A et al. Calcium-activated chloride conductance in a pancreatic adenoma cell line of ductal origin (HPAF) and in freshly isolated human pancreatic duct cells Pflügers Archiv 435 1998 796-803
47. Anguiano A Oates R D Amos J A et al. Congenital bilateral absence of vas deferens. A primary genital form of cystic fibrosis Journal of American Medical Association 267 1992 1794-1797
48. Sharer N Schwarz M Malone G et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis New England Journal of Medicine 339 1998 645-652
49. Cohn J A Friedman K J Noone P G et al. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis New England Journal of Medicine 339 1998 653-658
50. Etemad B Whitcomb D C Chronic pancreatitis: diagnosis, classification, and new genetic developments Gastroenterology 120 2001 682-707
51. Pignatti P F Bombieri C Marigo C et al. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis Human Molecular Genetics 4 1995 635-639
52. Miller P W Hamosh A Macek J et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis American Journal of Human Genetics 59 1996 45-51
53. Shwachman H Lebenthal E Khaw K T Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes Pediatrics 55 1975 86-95
54. Hanawa M Takebe T Takahashi S et al. The significance of the sweat test in chronic pancreatitis Tohoku Journal of Experimental Medicine 125 1978 59-69
55. Bank S Marks I N Novis B Sweat electrolytes in chronic pancreatitis American Journal of Digestive Diseases 23 1978 178-181
56. Norton I D Apte M V Dixson H et al. Cystic fibrosis genotypes and alcoholic pancreatitis Journal of Gastroenterology & Hepatology 13 1998 496-499
57. Haber P S Norris M D Apte M V et al. Alcoholic pancreatitis and polymorphisms of the variable length polythymidine tract in the cystic fibrosis gene Alcoholism: Clinical and Experimental Research 23 1999 509-512
58. Monaghan K G Jackson C E Kukurga D L Feldman G L Mutation analysis of the cystic fibrosis and cationic trypsinogen gene in patients with alcohol-related pancreatitis American Journal of Medical Genetics 94 2000 120-124
59. Arduino C Gallo A Brusco A et al. Polyvariant mutant CFTR genes in patients with chronic pancreatitis Clinical Genetics 56 1999 401-404
60. Kimura S Okabayashi Y Inushima K et al. Polymorphism of cystic fibrosis gene in Japanese patients with chronic pancreatitis Digestive Diseases & Sciences 45 1999 2007-2012
61. Ockenga J Stuhrmann M Ballmann M et al. Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent of chronic idiopathic pancreatitis American Journal of Gastroenterology 95 1999 2061-2067
62. Malats N Casals T Porta M et al. Cystic fibrosis transmembrane regulator (CFTR) deltaF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer Gut 48 2001 70-74
63. Cohn J A Bornstein J D Jowell P S Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis Medical Clinics of North America 84 2000 621-631
64. Noone P G Zhou Z Silverman L M et al. Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations Gastroenterology 121 2001 1310-1319
65. Yamashiro Y Shimizu T Oguchi S et al. The estimated incidence of cystic fibrosis in Japan Journal of Pediatric Gastroenterology & Nutrition 24 1997 544-547
66. Kulczycki L L Schauf V Cystic fibrosis in blacks in Washington, DC: incidence and characteristics American Journal of Diseases of Children 127 1974 64-67