The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are associated with cystic fibrosis (CF)-related monosymptomatic conditions, including idiopathic pancreatitis. We evaluated prospectively enrolled patients who had idiopathic recurrent acute pancreatitis or idiopathic chronic...

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Bibliographic Details
Published in:Human genetics 2005-12, Vol.118 (3-4), p.372-381
Main Authors: BISHOP, Michele D, FREEDMAN, Steven D, KORTAN, Paul, HABER, Gregory, ROSS, Christine, TZOUNTZOURIS, John, STEELE, Leslie, RAY, Peter N, TSUI, Lap-Chee, DURIE, Peter R, ZIELENSKI, Julian, AHMED, Najma, DUPUIS, Annie, MARTIN, Sheelagh, ELLIS, Lynda, SHEA, Julie, HOPPER, Isobel, COREY, Mary
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Blood donors
Care and treatment
Case-Control Studies
Cell membranes. Ionic channels. Membrane pores
Cell structures and functions
Chronic Disease
Classical genetics, quantitative genetics, hybrids
Cystic fibrosis
Cystic Fibrosis - complications
Cystic Fibrosis - diagnosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - physiology
DNA Mutational Analysis
Female
Fundamental and applied biological sciences. Psychology
Gastroenterology
Gastroenterology. Liver. Pancreas. Abdomen
Gene mutations
Genetic aspects
Genetic testing
Genetics of eukaryotes. Biological and molecular evolution
Genotype
Hospitals
Human
Humans
Ion Channels - genetics
Ion Channels - physiology
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical sciences
Medicine
Molecular and cellular biology
Mutation
Other diseases. Semiology
Pancreatitis
Pancreatitis - etiology
Pancreatitis - genetics
Pancreatitis - pathology
Prospective Studies
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Description
Summary:Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are associated with cystic fibrosis (CF)-related monosymptomatic conditions, including idiopathic pancreatitis. We evaluated prospectively enrolled patients who had idiopathic recurrent acute pancreatitis or idiopathic chronic pancreatitis, healthy controls, CF heterozygotes, and CF patients (pancreatic insufficient or sufficient) for evidence of CFTR gene mutations and abnormalities of ion transport by sweat chloride and nasal potential difference testing. DNA samples from anonymous blood donors were controls for genotyping. At least one CFTR mutation or variant was carried in 18 of 40 patients (45%) with idiopathic chronic pancreatitis and in 6 of 16 patients (38%) with idiopathic recurrent acute pancreatitis but in only 11 of the 50 controls (22%, P=0.005). Most identified mutations were rare and would not be identified in routine genetic screening. CFTR mutations were identified on both alleles in six patient (11%). Ion transport measurements in patients with pancreatitis showed a wide range of results, from the values in patients with classically diagnosed CF to those in the obligate heterozygotes and healthy controls. In general, ion channel measurements correlated with the number and severity of CFTR mutations. Twelve of 56 patients with pancreatitis (21%) fulfilled current clinical criteria for the diagnosis of CF, but CFTR genotyping alone confirmed the diagnosis in only two of these patients. We concluded that extensive genotyping and ion channel testing are useful to confirm or exclude the diagnosis of CF in the majority of patients with idiopathic pancreatitis.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-005-0059-z