Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030305 (pancreatitis)
 16,014 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary pancreatitis, an autosomal dominant disease, is the second most common cause of pancreatitis in children. Here we report a child with recurrent pancreatitis attacks and N29I mutation. Due to the increased risk of pancreatic cancer, taking a detailed past and family history and early diagnosis are important.
 ...
PMID:Chronic hereditary pancreatitis with N29I mutation in a Turkish child. 1605 60

Hereditary pancreatitis is an autosomal dominant disease with incomplete penetrance (80%), accounting for approximately 1% of all cases of pancreatitis. It is characterized by the onset of recurrent attacks of acute pancreatitis in childhood and frequent progression to chronic pancreatitis. Whitcomb et al. identified the cationic trypsinogen gene (PRSS1) on chromosome 7q35 as the site of the mutation that causes hereditary pancreatitis. The European registry of hereditary pancreatitis and familial pancreatic cancer (EUROPAC) aims to identify and make provisions for those affected by hereditary pancreatitis and familial pancreatic cancer. The most common mutations in hereditary pancreatitis are R122H, N29I and A16V but many families have been described with clinically defined hereditary pancreatitis where there is no PRSS1 mutation. It is known that the cumulative lifetime risk (to age 70 years) of pancreatic cancer is 40% in individuals with hereditary pancreatitis. This subset of individuals form an ideal group for the development of a screening programme aimed at detecting pancreatic cancer at an early stage in an attempt to improve the presently poor long-term survival. Current screening strategies involve multimodality imaging (computed tomography, endoluminal ultrasound) and endoscopic retrograde cholangiopancreatography for pancreatic juice collection followed by molecular analysis of the DNA extracted from the juice. The potential benefit of screening (curative resection) must be balanced against the associated morbidity and mortality of surgery. Philosophically, the individual's best interest must be sought in light of the latest advances in medicine and science following discussions with a multidisciplinary team in specialist pancreatic centres.
 ...
PMID:Hereditary pancreatitis and secondary screening for early pancreatic cancer. 1635 43

Hereditary pancreatitis is an uncommon autosomal dominant disease secondary to a mutation normally located in the trypsinogen gene, preventing trypsin deactivation. This mutation translates clinically into recurrent attacks of acute pancreatitis and an increased risk of pancreatic cancer. We report a case of acute hereditary pancreatitis due to a trypsinogen mutation that has previously been described in only one family.
 ...
PMID:[Hereditary pancreatitis caused by a new mutation in the trypsinogen gene. Report of a family]. 1675 8

Hereditary pancreatitis has been reported to be caused by 'gain-of-function' missense mutations in the cationic trypsinogen gene (PRSS1). Here we report the triplication of a approximately 605-kb segment containing the PRSS1 gene on chromosome 7 in five families with hereditary pancreatitis. This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis.
 ...
PMID:Hereditary pancreatitis caused by triplication of the trypsinogen locus. 1707 18

Hereditary pancreatitis should be assumed if other risk factors for the disease can not been identified and if the patient has a family history for recurrent pancreatitis, chronic pancreatitis or pancreatic cancer. Since patients with chronic pancreatitis due to mutations in the cationic trypsinogen-gene have a much higher lifetime risk of developing pancreatic cancer, specifically if they are smokers, an adequate long-term follow up in specialized centers is recommended. The most frequent genetic changes in patients with hereditary pancreatitis are mutations in the cationic trypsinogen gene. Mutations in the CFTR-gene or SPINK1-gene have been reported in patients with idiopathic pancreatitis. The clinical relevance and the therapeutic consequences of these mutations is still controversial. Genetic testing is recommended when a patient with idiopathic pancreatitis is under 25 years at diagnosis or when one or more family members have either pancreatitis or pancreatic cancer. Genetic analysis of asymptomatic family members should only be offered after adequate genetic counselling. Prenatal diagnostic is not recommended.
 ...
PMID:[Hereditary pancreatitis]. 1711 46

The role of endoscopic retrograde cholangiopancreatography (ERCP) in the management of pancreatic disease is continuing to evolve. In view of increasingly noninvasive diagnostic imaging modalities for pancreatic disease, ERCP should be mainly restricted to therapeutic indications. This article reviews recent publications spanning a wide range of topics related to therapeutic pancreatic endoscopy: This review article will be focused on the technical and therapeutic aspects of the following topics: 1. Post-ERCP pancreatitis and preventive methods for this entity, 2. Recurrent severe pancreatitis, 3. Oddi sphincter dysfunction, 4. Pancreatic duct stenosis and lithiasis in chronic pancreatitis, 5. Hereditary pancreatitis, 6. Pseudocysts and pancreatic abscesses, and 7. Pancreatic duct fistulae. Pancreatic endotherapy is technically demanding and potentially hazardous; these interventions should be restricted to high-volume centers with options for an interdisciplinary team approach. Methods that have not yet been established should be evaluated in carefully designed prospective trials.
 ...
PMID:[Therapeutic endoscopy in pancreas]. 1746 15

Hereditary pancreatitis is a rare, autosomal dominant, inherited disease characterized by recurrent attacks of acute pancreatitis with the development of chronic pancreatitis and an increased risk of pancreatic cancer. R122H or N29I mutation in cationic trypsinogen (protease serine 1, PRSS1) gene causes hereditary pancreatitis. R122H mutation is the most common mutation that causes pancreatitis by preventing deactivation of trypsin within the pancreas and prolonging its action. Three members of the family, the patient, her elder son, and her niece experienced recurrent attacks of pancreatitis. We analyzed five exons of the PRSS1 gene in DNA samples of five family members including her husband and younger son who were asymptomatic. We found out that four members of the family, the patient, her two sons, and her niece, had R122H mutation in the exon 3 of PRSS1 gene. Finally, we diagnosed hereditary pancreatitis in two households in the same family.
 ...
PMID:[Three cases of hereditary pancreatitis in two households in the same family associated with R122H mutation in cationic trypsinogen gene]. 1764 59

Hereditary pancreatitis, an autosomal dominant disease with approximately 80% penetrance, can be caused by both 'gain-of-function' missense and copy number mutations in the cationic trypsinogen gene (PRSS1). Here we demonstrate a heterozygous hybrid PRSS2 (encoding anionic trypsinogen)/PRSS1 gene in a French white family with hereditary pancreatitis, by means of quantitative fluorescent multiplex PCR and RT-PCR analyses. The hybrid gene, in which exons 1 and 2 are derived from PRSS2 and exons 3-5 from PRSS1, apparently resulted from a non-allelic homologous recombination (NAHR) event between the chromosome 7 homologs or sister chromatids during meiosis. Interestingly, this hybrid gene causes the disease through a combination of its inherent 'double gain-of-function' effect, acting simultaneously as a 'quantitative' copy number mutation and a 'qualitative' missense mutation (i.e. the known disease-causing p.N29I mutation). Our finding reveals a previously unknown mechanism causing human inherited disease, enriches the lexicon of human genetic variation and goes beyond the known interaction between copy number variations (CNVs) and single nucleotide substitutions in health and disease. Our finding should also stimulate more interest in analyzing both types of genetic variation whenever one tries to determine the contribution of a specific locus to a given disease phenotype.
 ...
PMID:Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation. 1846 67

Hereditary pancreatitis is defined as a family history of two or more relatives with pancreatitis and clinical, biochemical, or radiologic evidence of pancreatitis. This is the fourth family described with hereditary pancreatitis related to mutation c.364C>T (p.R122C) of PRSS1 gene. The index case was a four year old child who had had his first episode of abdominal pain at age three. At that time he was admitted in hospital for two days and he improved with analgesic treatment only. One year later, in a second similar episode, he had been diagnosed with pancreatitis. His father was submitted to pancreato-duodenectomy (Whipple procedure) when he was 27 years old due to recurrent pancreatitis since age 19. Paternal grandfather and the parents of this grandfather had been diagnosed with diabetes mellitus. The mutation R122C was present in heterozigoty, in the exon 3 of PRSS1 gene, in the index case and also in his father. The importance of a long term follow-up is highlighted, taking into consideration the risk of ductal pancreatic adenocarcinoma.
 ...
PMID:[Hereditary pancreatitis in a child]. 1968 34

Hereditary pancreatitis is a rare cause of chronic pancreatitis. The prevalence was evaluated to 0.3/100000 in Western Countries. Genetic disorders are due to mutations of the PRSS1 gene on the long arm of the chromosome 7, encoding for the cationic trypsinogen. The inheritance pattern is autosomal dominant with an incomplete penetrance (80%). Since 1996, more than 30 mutations were found. The three more common mutations are R122H, N29I and A16V. First symptoms begin since childhood, mainly before 10 years old. Main symptoms are pancreatic pain and acute pancreatitis (>70%). CP morphological changes as pancreatic calcifications are diagnosed at a median age of 22-25 years. Exocrine and endocrine pancreatic insufficiency occurred in 34% and 26% at a median age of 29 and 38 years. No clinical differences exist according to the mutation type. No excess of mortality in hereditary pancreatitis population compared to general population was found, despite a real risk of cancer. The cumulative risks of pancreatic cancer at 50, 60 and, 75 years are 10%, 18.7% and, 53.5%, respectively. The relative risk of cancer increases in smokers and is evaluated to 8.55. Hereditary pancreatitis diagnosis permits to propose an adapted management in expert centres.
 ...
PMID:An overview of hereditary pancreatitis. 2190 51


<< Previous 1 2 3 4 5 6 7 Next >>