Genotype and phenotype correlations

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Genotype and phenotype correlations in patients with

cystic fibrosis and pancreatitis

Carol Durno* [MEDLINE LOOKUP]

Corey*,‡,§ [MEDLINE LOOKUP]

n Zielenski|| [MEDLINE LOOKUP]

Tullis*,,# [MEDLINE LOOKUP]

Lap-Chee Tsui,** [MEDLINE LOOKUP]

Durie*,‡‡ [MEDLINE LOOKUP]

   Abstract

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 (1966–1996). 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.

   Publishing and Reprint Information

•       Programmes in ‡‡Integrative Biology, ||Genetics and

Genomic Biology, and ‡Population Health Sciences, The

Research Institute, The Hospital for Sick Children;

Division of Respirology, St. 's Hospital; and

Departments of *Pediatrics, #Medicine, **Molecular and

Medical Genetics and §Public Health Sciences,

University of Toronto, Toronto, Ontario, Canada

•       Received January 15, 2000.

•       Accepted September 12, 2002.

•       GASTROENTEROLOGY 2002;123:1857-1864

•       Address requests for reprints to: R. Durie,

M.D., F.R.C.P.©, Division of Gastroenterology and

Nutrition, The Hospital for Sick Children, 555

University Avenue, Toronto, Ontario, Canada, M5G 1X8.

e-mail: peter.durie@... ; fax: .

•       Supported by grants in aid from the Canadian Cystic

Fibrosis Foundation and National Institutes of Health

(NIDDK-DK49096). C.D. was awarded a research

fellowship from the Hospital for Sick Children

Research Institute and Janssen Ortho (Canada) Inc.

•       © 2002 by the American Gastroenterological

Association

•       0016-5085/02/$35.00

•       doi:10.1053/gast.2002.37042

Becki

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