Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149521 (chronic pancreatitis)
 7,199 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystic fibrosis (CF) is a genetic disease with multisystem involvement in which defective chloride transport across membranes causes dehydrated secretions. The protein encoded by the CF gene--the cystic fibrosis transmembrane conductance regulator (CFTR)--functions as a cyclic adenosine monophosphate-regulated chloride channel. The ability to detect CFTR mutations has led to the recognition of its association with a variety of conditions, including chronic bronchitis, sinusitis with nasal polyps, pancreatitis, and, in men, infertility. This article reviews the impact of CF on the pancreas, the role of the CFTR protein in pancreatic secretion, and some of the exciting research identifying mutations in the CFTR gene as a risk factor for idiopathic acute and chronic pancreatitis.
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PMID:Pancreatitis and cystic fibrosis gene mutations. 1050 35

Cystic fibrosis transmembrane conductance regulator (CFTR) gene studies are now one of the most frequent activities in clinical molecular genetics laboratories. The number of requests is growing, owing to the increasingly wide range of recognized CFTR gene diseases (cystic fibrosis, congenital bilateral absence of the vas deferens, disseminated bronchiectasis, allergic bronchopulmonary aspergillosis and chronic pancreatitis), and the availability of efficient molecular tools for detecting mutations. A growing number of tests capable of simultaneously detecting several frequent CF mutations are being developed, and commercial kits are now available. The most recent kits detect nearly 90% of defective alleles in Caucasians, a rate high enough for carrier screening and for the majority of diagnostic requests. However, because of the wide variety of molecular defects documented in the CFTR gene, only a limited number of laboratories have mastered the entire panoply of necessary techniques, while other laboratories have to refer certain cases to specialized centers with complementary and/or scanning tools at their disposal. A good knowledge of CFTR diseases and their molecular mechanisms, together with expertise in the various techniques, is crucial for interpreting the results. Diagnostic strategies must take into account the indication, the patient's ethnic origin, and the time available in the framework of genetic counseling. This review presents the methods most frequently used for detecting CFTR gene mutations, and discusses the strategies most suited to the different clinical settings.
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PMID:Screening practices for mutations in the CFTR gene ABCC7. 1064 90

Hereditary pancreatitis (HP) is an autosomal dominant disorder characterized by recurrent acute attacks of severe abdominal pain with an onset in early childhood. Many HP patients progress to complicated chronic pancreatitis and/or pancreatic cancer. Initially, a single mutation R117H in the cationic trypsinogen gene was detected in all affected members of five unrelated HP families. Further studies identified a second mutation (N21L) in two HP families without the R117H mutation. Before the association between cationic trypsinogen and HP was found, we detected a cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation (L327R) in all affected individuals of a family with HP. We therefore performed a mutational analysis for R117H and N21L in cationic trypsinogen in this and three additional unrelated families with HP. The R117H mutation was detected in all 9 affected members of three HP families and in 3 asymptomatic but at-risk relatives. However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP family with the L327R alteration in CFTR. The L327R allele segregates with the disease within this HP family and was not detected on 360 unrelated Caucasian non-CF chromosomes. Although close to 800 different mutations have been detected in the CF gene of cystic fibrosis patients, L327R is a new alteration, not yet reported in connection with CF. The results of this study indicate that the CFTR gene may play a role in the etiology of minority of cases with HP and suggest that hereditary pancreatitis is genetically heterogeneous disease.
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PMID:Evidence that hereditary pancreatitis is genetically heterogeneous disorder. 1065 40

Idiopathic chronic pancreatitis is a leading cause of chronic pancreatitis. Work from this and other groups has shown that idiopathic chronic pancreatitis is associated with mutations of the cystic fibrosis gene (CFTR). Many idiopathic pancreatitis patients have compound heterozygote genotypes in which both copies of the CFTR gene are abnormal. In these patients, the pancreatic disease can be viewed as a mild variant of cystic fibrosis, in which there is sufficient residual CFTR function to prevent lung disease. This article summarizes the evidence associating these abnormal CFTR genotypes with idiopathic chronic pancreatitis and reviews the implications of this association for the pathogenesis, classification, and prevention of pancreatitis.
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PMID:Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis. 1087 19

Idiopathic chronic pancreatitis accounts for up to one third of chronic pancreatitis cases. The most common inherited disease of the exocrine pancreas is cystic fibrosis, which is caused by mutations of a gene encoding an ion transport protein. It was discovered during the past year that many patients with idiopathic chronic pancreatitis have mutations of the gene that causes cystic fibrosis. This article reviews the evidence associating mutations of this gene with chronic pancreatitis and discusses the implications of this association for the evaluation, pathogenesis, classification, and possible prevention of pancreatitis.
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PMID:Cystic fibrosis in the pancreas: recent advances provide new insights. 1098 Sep 31

Nutrition has an important role in the management of chronic pancreatitis (CP), with two main goals for treatment of patients. The first goal is to provide optimal nutrition support and the second is to decrease pain by minimizing stimulation of the exocrine pancreas. Because cholecystokinin (CCK) stimulates secretion from the exocrine pancreas, one approach is to decrease CCK levels through modulation of diet. If postprandial pain is a limiting factor, alternative enteral therapies that minimally stimulate the pancreas may be beneficial. Nutritional counseling, antioxidants, and pancreatic enzymes may play a role in effective management of CP as well. In addition, because idiopathic CP is associated with cystic fibrosis gene mutations, therapies directed toward cystic fibrosis may also benefit these patients.
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PMID:Advances in nutritional management of chronic pancreatitis. 1098 Oct 31

Cystic fibrosis is a genetic recessive disorder caused by mutations in the gene that encodes the CFTR protein. The diagnosis of cystic fibrosis is usually established in early childhood but it is now being made in an increasing number of adults. Many of them present with mild or atypical cystic fibrosis clinical features, mostly lung disease. In addition, some adults with congenital bilateral absence of vas deferens or idiopathic chronic pancreatitis may be assigned a diagnosis of cystic fibrosis. The diagnosis of cystic fibrosis in adults should be based on the presence of one or more characteristic clinical features, a history of cystic fibrosis in a sibling, plus evidence of defective CFTR function as documented by elevated sweat chloride concentrations or abnormal ion transport across the nasal epithelium, or identification of mutations on both CFTR genes.
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PMID:[Diagnosis of cystic fibrosis in adults]. 1107 84

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and the 5T genotype of the polythymidine tract at the exon 9 splice branch/acceptor site are shown to be associated with chronic pancreatitis in Caucasian patients. In contrast to Western countries, cystic fibrosis is extremely rare in Japan. In this study, we investigated the association of mutations or polymorphisms of the CFTR gene with chronic pancreatitis in Japanese patients. Forty-seven patients with chronic pancreatitis (alcohol-related in 31, idiopathic in 14, and familial in 2) were examined for the deltaF508 and R117H mutations and polymorphisms of intron 8. DNA was extracted from leukocytes. Mutations and polymorphisms were examined by the allele-specific polymerase chain reactions and confirmed by direct sequencing. None of the patients had deltaF508 or R117H mutations in the CFTR gene. All of 47 healthy Japanese showed the homozygous 7T/7T genotype, whereas the frequencies of 5T, 7T, and 9T alleles were 0.043, 0.894, and 0.064 in the patients, respectively. The difference in allele frequency is statistically significant. Therefore, the present study indicates the association of polymorphism of the polythymidine tract in intron 8 of the CFTR gene with chronic pancreatitis in Japanese patients.
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PMID:Polymorphism of cystic fibrosis gene in Japanese patients with chronic pancreatitis. 1111 75

The incidence of acute and chronic pancreatitis in childhood is unknown. Both are associated with significant morbidity and mortality. The role of clinical suspicion is vital as these disorders can be misdiagnosed easily. Molecular basis of several disorders are being elicited and promising new diagnostic tests are being developed, including tests to assess fat malabsorption by non-invasive methods. Etiological spectrum of acute pancreatitis ranges from congenital, structural or inherited disorders to trauma, infections, drug toxicity and interventions such as endoscopic retrograde cholangiopancreatography and organ transplantation. Chronic tropical calculus pancreatitis is a progressive disorder that presents in childhood with recurrent abdominal pain, progressing to diabetes by puberty. Idiopathic recurrent pancreatitis has recently been associated with higher frequency of cystic fibrosis gene mutations. Therapeutic use of lexipafant opens the field to new powerful therapies designed to reduce the systemic inflammatory response syndrome and thus reduce the morbidity and mortality significantly.
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PMID:Acute and chronic pancreatitis in childhood. 1113 75

Adding either H(2)-receptor antagonists (cimetidine or ranitidine) or proton pump inhibitors to an adequate amount of lipolytic activity improves fat malabsorption in most cases and abolishes steatorrhoea in up to 40% of children and adults with cystic fibrosis and in adults with chronic pancreatitis. Acid suppression improves fat absorption because the resultant increase in pH within the upper gastrointestinal tract improves the survival of lipolytic activity, reduces duodenal volume flow and prevents the precipitation of bile acids. These effects increase the concentration of intraduodenal lipolytic activity and promote the aggregation of bile acids and the micellar solubilization of lipid. The amount of lipase that should be recommended is controversial, but we interpret our studies as indicating that at least 90 000 United States Pharmacopeia (USP) units should be ingested with meals. This amount of lipolytic activity taken with an agent that suppresses gastric acid secretion improves fat absorption in most patients and may even abolish steatorrhoea.
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PMID:Gastric acid suppression and treatment of severe exocrine pancreatic insufficiency. 1140 40


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