Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis

Gastroenterology

Volumn 123, Issue 6, 2002, Pages 1857-1864

  Durno, Carol ^b   Corey, Mary ^a,b   Zielenski, Julian ^a   Tullis, Elizabeth ^a,b,c   Tsui, Lap Chee ^a,c   Durie, Peter ^a,b,d  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CYSTIC FIBROSIS; DATA BASE; FEMALE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PANCREAS INSUFFICIENCY; PANCREATITIS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL;

EID: 0036892322     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/gast.2002.37042     Document Type: Article

References (31)

1. Gaskin K, Gurwitz D, Durie PR, Levison H, Forstner G. Improved respiratory prognosis in patients with cystic fibrosis with normal fat absorption. J Pediatr 1982;100:857-862.
2. Corey M, Durie P, Moore D, Forstner G, Levision H. Familial concordance of pancreatic function in cystic fibrosis. J Pediatr 1989;115:274-277.
3. Kopleman H, Corey M, Gaskin K, Durie P, Weizman Z, Forstner G. Impaired chloride secretion as well as bicarbonate secretion, underlies the fluid secretory defect in the cystic fibrosis pancreas. Gastroenterology 1988;95:349-355.
4. Kopleman H, Durie P, Gaskin K, Weizman Z, Forstner G. Pancreatic fluid secretion and protein hyperconcentration in cystic fibrosis. N Engl J Med 1985;312:329-334.
5. Rommens JM, lannuzzi MC, Kerem B-S, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui L-C, Collins FS. Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 1989;245:1059-1065.
6. Riordan JR, Rommens JM, Kerem B-S, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou J-L, Drumm ML, lannuzzi MC, Collins FS, Tsuis L-C. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 1989;245:1066-1073.
7. Kerem B-S, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui L-C. Identification of the cystic fibrosis gene: Genetic analysis. Science 1989;245:1073-1080.
8. Kerem E, Corey M, Kerem B-S, Rommens J, Markiewicz D, Levison H, Tsui L-C, Durie PR. The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (AF508). N Engl J Med 1990;323:1517-1522.
9. Cystic Fibrosis Genetic Analysis Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993;329:1308-1313.
10. Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui L-C, Durie P. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 1992;50:1178-1184.
11. Shwachman H, Lebenthal E, Khaw K-T. Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes. Pediatrics 1975;55:86-94.
12. Masaeyk TJ, Achkar E. Pancreatitis as initial presentation of cystic fibrosis in young adults. Dig Dis Sci 1983;28:874-878.
13. Weizman Z, Durie PR. Acute pancreatitis in children. J Pediatr 1988;113:24-29.
14. Gross V, Schoelmerich J, Denzel K, Gerok W. Relapsing pancreatitis as initial manifestation of cystic fibrosis in a young man without pulmonary disease. Int J Pancreatol 1989;4:221-228.
15. Couper RTL, Corey M, Moore DJ, Fisher U, Forstner GG, Durie PR. Decline of exocrine pancreatic function in cystic fibrosis patients with pancreatic sufficiency. Pediatr Res 1992;32:179-182.
16. Rosenstein BJ, Cutting GR for the Consensus Committee. The diagnosis of cystic fibrosis: A consensus statement. J Pediatr 1998;132:589-595.
17. Van de Kamer HH, Huinick H, Weyers HA. Rapid method for determination of fat in feces. J Biol Chem 1949;177:347-351.
18. Jeejeebhoy KN, Ahmed S, Kozak G. Determination of faecal fats containing both medium- and long-chain triglycerides and fatty acids. Clin Biochem 1970;3:157-163.
19. Geokas MC, Largman D, Brodick JW, Johnson JH. Determination of human pancreatic cationic trypsinogen in serum by radioimmunoassay. Am J Physiol 1979;236:E77-E83.
20. Zielenski J, Bozon G, Kerem B, Markiewicz D, Durie P, Rommens JM, Tsui LC. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991;10:229-235.
21. Bozon D, Zielenski J, Rininsland F, Tsui LC. Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: 148T, L1077P, Y1092X, 2183AA→G. Hum Mutat 1994;3:330-332.
22. Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC. Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Hum Mutat 1995;5:43-47.
23. Scheele GA, Fukuoka S-I, Kern HE, Freedman SD. Pancreatic dysfunction in cystic fibrosis occurs as a result of impairments in luminal pH, apical trafficking of zymogen granule membranes, and solubilization of secretory enzymes. Pancreas 1996;12:1-9.
24. FitzSimmons SC. Cystic Fibrosis Foundation Patient Registry 1995: Annual Data Report. Bethesda, MD: Cystic Fibrosis Foundation, August 1996.
25. Wiatrak BJ, Meyer CM, Cotton RT. Cystic fibrosis presenting with sinus disease in children. Am J Dis Child 1993;147:258-260.
26. Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A. Congenital bilateral absence of the vas deferens. JAMA 1992;267:1794-1797.
27. 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.
28. Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Braganza J. Mutations in the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339:645-642.
29. Marino CR, Matovik LM, Gorelick FS, Cohn JA. Localization of the cystic fibrosis transmembrane conductance regulator in the pancreas. J Clin Invest 1991;88:712-716.
30. Zeng W, Lee MG, Yan M, Diaz J, Benjamin J, Marino CR, Kopito R, Freedman S, Cotton C. Immuno and functional expression of CFTR in submandibular and pancreatic acinar and duct cells. Am J Physiol 1997;273:C442-C455.
31. Noone PG, Zhou Z, Silverman LM, Jowell PS, Knowles MR, Cohn JA. Cystic fibrosis gene mutations and pancreatitis risk: Relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology 2001;121:1310-1319.