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- W2051623202 abstract "CF causing mutations in CFTR have been linked to elevated risk of pancreatitis without cystic fibrosis. Our recent findings indicate that a CFTR variant that does not cause classic CF (R75Q) is yet a risk factor for idiopathic pancreatitis. Our study assesses the impact of both CF and atypical CFTR mutations on severity and onset of idiopathic pancreatitis. 45 CFTR variants were tested among 956 chronic and recurrent acute pancreatitis patients and 467 unrelated controls. Detailed questionnaires were completed by subjects and physicians on pancreatic and CF-like symptoms. Twelve CF causing CFTR mutations and seven CFTR variants of uncertain clinical significance were identified more frequently in patients than controls. While the common CF causing mutation F508del composed 30% of all CFTR variants identified among patients, the seven atypical CFTR variants composed 60%. The ages of onset for both acute and chronic pancreatitis were significantly lower among CFTR variant carriers than patients with no identified variants. There was no significant difference in the ages of onset between patients carrying a classic CF mutation or a variant of uncertain clinical significance. Male infertility was significantly more common among patients with a compound atypical genotype, as compared to those with no identified variants (p = 0.00003), but not among either CF or atypical mutation carriers. In addition to classic CF causing mutations, this new class of atypical CFTR variants may play a major role in the etiopathology of pancreatitis. Compound heterozygosity with atypical CFTR variants is a significant risk factor for both pancreatitis and male infertility." @default.
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- W2051623202 date "2011-06-01" @default.
- W2051623202 modified "2023-10-17" @default.
- W2051623202 title "10 Cystic fibrosis genotype in northern Portugal" @default.
- W2051623202 doi "https://doi.org/10.1016/s1569-1993(11)60032-5" @default.
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