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Natural history of pancreatitis associated with cystic fibrosis gene mutations. 2003

L Frulloni, and C Castellani, and P Bovo, and B Vaona, and B Calore, and C Liani, and G Mastella, and G Cavallini
Department of Surgical and Gastroenterological Sciences, University of Verona, Verona, Italy. luca.frulloni@univr.it

BACKGROUND An increased incidence of CFTR mutations has recently been reported in chronic and idiopathic pancreatitis. OBJECTIVE The aim of the study was to verify these data and describe the clinical, morphological and histological findings in 99 patients (59 males, 40 females, mean age 40+/-16 years), 45 suffering from idiopathic chronic pancreatitis and 54 from acute recurrent pancreatitis. METHODS Each subject was screened for the 18 CFTR mutations: DF508, DI507, R1162X, 2183AA>G, 21303K, 3849+10KbC>T, G542X, 1717-1G>A, R553X, Q552X, G85E, 711+5G>A, 3132delTG, 2789+5G>A, W1282X, R117H, R347P, R352Q), which cover 72% of cystic fibrosis chromosomes in the Italian population, plus the 5-thymidine allele in intron 8 of the CFTR gene (IVS85T). RESULTS Among the 99 patients, we found 14 patients with CFTR mutation (14.1%). Three idiopathic chronic pancreatitis patients had cystic fibrosis (compound mutations in two and a single mutation with a pathological sweat test in one) and 11 (11.1%) presented a single mutation (carriers) (seven idiopathic chronic pancreatitis and four acute recurrent pancreatitis). The incidence of patients with cystic fibrosis was 167.5 times higher than that observed in the general population, whereas the carrier frequency was 4.43 times higher for chronic pancreatitis and 2.11 times for acute recurrent pancreatitis than that observed in 428 unrelated partners of cystic fibrosis patients. The prevalence of IVS8-5T was similar (7.1%) to that of the general population (10%). All idiopathic chronic pancreatitis patients with one or more CFTR gene mutations had a long history of recurrent attacks of pancreatitis. The length of recurrences of pancreatitis before diagnosis of chronic pancreatitis was shorter in chronic pancreatitis patients with one or more CFTR gene mutations than in the other idiopathic chronic pancreatitis patients (7.4+/-5.8 vs. 2.1+/-2 years). In idiopathic chronic pancreatitis patients with one or more CFTR gene mutations, exocrine and endocrine insufficiency (diabetes and steatorrhoea) were rare or delayed events. CONCLUSIONS The natural history of pancreatitis associated with CFTR gene mutations seems to be characterised by recurrences of pancreatitis which develops into chronic pancreatitis.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010195 Pancreatitis INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. Acute Edematous Pancreatitis,Acute Pancreatitis,Pancreatic Parenchyma with Edema,Pancreatic Parenchymal Edema,Pancreatitis, Acute,Pancreatitis, Acute Edematous,Peripancreatic Fat Necrosis,Acute Edematous Pancreatitides,Acute Pancreatitides,Edema, Pancreatic Parenchymal,Edematous Pancreatitides, Acute,Edematous Pancreatitis, Acute,Fat Necrosis, Peripancreatic,Necrosis, Peripancreatic Fat,Pancreatic Parenchymal Edemas,Pancreatitides, Acute,Pancreatitides, Acute Edematous,Parenchymal Edema, Pancreatic,Peripancreatic Fat Necroses
D011446 Prospective Studies Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group. Prospective Study,Studies, Prospective,Study, Prospective
D012008 Recurrence The return of a sign, symptom, or disease after a remission. Recrudescence,Relapse,Recrudescences,Recurrences,Relapses
D002908 Chronic Disease Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care (Dictionary of Health Services Management, 2d ed). For epidemiological studies chronic disease often includes HEART DISEASES; STROKE; CANCER; and diabetes (DIABETES MELLITUS, TYPE 2). Chronic Condition,Chronic Illness,Chronically Ill,Chronic Conditions,Chronic Diseases,Chronic Illnesses,Condition, Chronic,Disease, Chronic,Illness, Chronic
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D005260 Female Females
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies

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