Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis

被引:136
作者
Durno, C
Corey, M
Zielenski, J
Tullis, E
Tsui, LC
Durie, P
机构
[1] Hosp Sick Children, Div Respirol, St Michaels Hosp, Res Inst,Programmes Integrat Biol, Toronto, ON M5G 1X8, Canada
[2] Hosp Sick Children, Div Respirol, St Michaels Hosp, Res Inst,Programmes Genet, Toronto, ON M5G 1X8, Canada
[3] Hosp Sick Children, Div Respirol, St Michaels Hosp, Res Inst,Programmes Genom Biol, Toronto, ON M5G 1X8, Canada
[4] Hosp Sick Children, Div Respirol, St Michaels Hosp, Res Inst,Programmes Populat Hlth Sci, Toronto, ON M5G 1X8, Canada
[5] Univ Toronto, Dept Pediat, Toronto, ON, Canada
[6] Univ Toronto, Dept Med, Toronto, ON, Canada
[7] Univ Toronto, Dept Mol & Med Genet, Toronto, ON, Canada
[8] Univ Toronto, Dept Publ Hlth Sci, Toronto, ON, Canada
关键词
D O I
10.1053/gast.2002.37042
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Background & Aims: Pancreatitis is known to occur in some patients with cystic fibrosis (CF), but the prevalence, natural history, and genotypic basis are unclear. We examined a well-defined cohort of patients with CF to answer these questions. Methods: Patients with CF were identified from a computerized database (19661996). Chart audit identified all patients with CF and pancreatitis. Results: Among 1075 patients with CF, 937 (87%) were pancreatic insufficient at diagnosis, 28 (3%) were pancreatic sufficient but. developed pancreatic insufficiency after diagnosis, and 110 (10%) have remained pancreatic sufficient. No patients with pancreatic insufficiency developed pancreatitis. Nineteen patients (17.3%) with pancreatic sufficiency experienced one or more attacks of pancreatitis. The mean age at diagnosis of pancreatitis was 22.7 +/- 10.3 years (range, 10-35 years), and pancreatitis was recognized before the diagnosis of CF in 6 patients (32%). The diagnosis of CF in pancreatic-sufficient patients, with and without pancreatitis, was established at a significantly older age than in those with pancreatic insufficiency (P < 0.0001). Genotyped patients with pancreatic insufficiency carried 2 severe mutant alleles. All genotyped patients with pancreatic sufficiency and pancreatitis carried at least one mild mutation. No specific genotype was predictive of pancreatitis. Conclusions: Patients with CF with pancreatic sufficiency carry at least one mild mutant allele and are at a significant risk of developing pancreatitis. Symptoms of pancreatitis may precede the diagnosis of CF. Pancreatitis is associated with an otherwise mild CF phenotype.
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页码:1857 / 1864
页数:8
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