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Volume 339:645-652 September 3, 1998 Number 10 Next

	Full Text PDF Editorial by Durie, P. R. Letters Letters Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited Related Article by Malats, N. PubMed Citation

ABSTRACT

Background The pancreatic lesions of cystic fibrosis develop in utero and closely resemble those of chronic pancreatitis. Therefore, we hypothesized that mutations of the cystic fibrosis transmembrane conductance regulator (CF TR ) gene may be more common than expected among patients with chronic pancreatitis.

Methods We studied 134 consecutive patients with chronic pancreatitis (alcohol-related disease in 71, hyperparathyroidism in 2, hypertriglyceridemia in 1, and idiopathic disease in 60). We examined DNA for 22 mutations of the CF TR gene that together account for 95 percent of all mutations in patients with cystic fibrosis in the northwest of England. We also determined the length of the noncoding sequence of thymidines in intron 8, since the shorter the sequence, the lower the proportion of normal CFTR messenger RNA.

Results The 94 male and 40 female patients ranged in age from 16 to 86 years. None had a mutation on both copies of the CF TR gene. Eighteen patients (13.4 percent), including 12 without alcoholism, had a CF TR mutation on one chromosome, as compared with a frequency of 5.3 percent among 600 local unrelated partners of persons with a family history of cystic fibrosis (P<0.001). A total of 10.4 percent of the patients had the 5T allele in intron 8 (14 of 134), which is twice the expected frequency (P=0.008). Four patients were heterozygous for both a CF TR mutation and the 5T allele. Patients with a CF TR mutation were younger than those with no mutations (P=0.03). None had the combination of sinopulmonary disease, high sweat electrolyte concentrations, and low nasal potential-difference values that are diagnostic of cystic fibrosis.

Conclusions Mutations of the CF TR gene and the 5T genotype are associated with chronic pancreatitis.

Source Information

From the Pancreato-Biliary Unit (N.S., J.P.) and University Department of Medicine (J.B.), Manchester Royal Infirmary; and the Regional Genetic Service, Royal Manchester Children's Hospital (M. Schwarz, G.M., A.H., M. Super) — both in Manchester, United Kingdom.

Address reprint requests to Dr. Braganza at Manchester Royal Infirmary, Oxford Rd., Manchester M13 9WL, United Kingdom.

Full Text of this Article

Related Letters:

Correction: Mutations of the Cystic Fibrosis Gene in Patients with Chronic Pancreatitis
Malats N., Real F. X., Sharer N. M., Schwartz M. J.
Extract | Full Text  
N Engl J Med 1999; 340:1592-1593, May 20, 1999. Correspondence

Mutations of the Cystic Fibrosis Gene and Pancreatitis
Ren C. L., Sharer N., Schwartz M., Cohn J. A., Silverman L. M., Knowles M. R.
Extract | Full Text  
N Engl J Med 1999; 340:238-239, Jan 21, 1999. Correspondence

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