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Query: UMLS:C0030305 (pancreatitis)
 16,014 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Tropical pancreatitis is a special type of chronic pancreatitis that is seen mainly in tropical countries. The prevalence of tropical pancreatitis is about 126/100,000 population in southern India. It occurs usually in young people, involves the main pancreatic duct and results in large ductal calculi. The etiology is not known, but genetic mutations such as the SPINK1 gene mutation and environmental factors are likely causes. Clinically, >90% of patients present with abdominal pain. About 25% of patients develop diabetes which generally requires insulin for its control but is ketosis-resistant. Painless diabetes is another clinical presentation in some patients. Most patients develop malnutrition during the course of the disease. Steatorrhea is less common. Patients with tropical pancreatitis may develop pancreatic cancer as a long-term complication. The diagnosis can be established by plain radiography of the abdomen, ultrasonography, computerized tomography scan of the abdomen or endoscopic retrograde cholangiopancreatography. Management is directed towards relief from pain and control of diabetes and steatorrhea. Pain relief can be obtained by analgesics and enzyme supplementation with preparations rich in proteases. Endotherapy coupled with stone fragmentation by extracorporeal shock wave lithotripsy is an effective therapy for those who fail to respond to medical therapy. Surgical decompression of the main pancreatic duct by lateral pancreato-jejunostomy is reserved for patients with severe pain non-responsive to other forms of therapy.
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PMID:Tropical pancreatitis. 1575 8

A 43-year-old otherwise healthy female patient presented with mild pancreatitis. Her family history revealed that her only son had cystic fibrosis. Genotyping of the patient demonstrated CFTR compound heterozygosity CFTRdele2,3(21 kb) and R117H and wild type alleles of the poly-T-tract in intron 8 (7T/7T). No mutations were detected in the cationic pancreatic trypsinogen (PRSS1) and the pancreatic secretory trypsinogen inhibitor (SPINK1) genes. CFTRdele2,3(21 kb) has only been described in 2000 and is the second most frequent severe CFTR mutation after DeltaF508 in central and eastern Europe. This haplotype should be included in the genetic panel when evaluating patients of central or eastern European genetic background for possible CFTR related pancreatitis.
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PMID:Relapsing pancreatitis due to a novel compound heterozygosity in the CFTR gene involving the second most common mutation in central and eastern Europe [CFTRdele2,3(21 kb)]. 1577 4

The understanding of pathogenesis of acute and chronic pancreatitis has benefited from the progress made in genetic investigations. The discoveries of the gain of function mutations of cationic trypsinogen gene (PRSS1) and the loss of function mutations of pancreatic secretory trypsin inhibitor (SPINK 1) or other potential defects in genes that regulate pancreatic secretory function or modulate inflammatory response to pancreatic injury has changed our current concepts on the pathogenesis of pancreatitis. Genetic factors play an important role in the susceptibility to pancreatic injury, severity and evolution of inflammatory process, leading in some cases to chronic inflammation and/or fibrosis. Acute pancreatitis is viewed as an event and chronic pancreatitis as a process, sequentially linked, reflecting a complex interaction between genetic and environmental factors.
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PMID:Genetic factors in pancreatitis. 1580 Jun 94

Alcoholic pancreatitis is an old disease that continues to present controversial issues. One of the most hotly debated issues is whether alcoholic pancreatitis is a chronic disease from the beginning or if instead it becomes chronic after repeated episodes of acute pancreatitis. Histologic studies, including very large series of patients with alcoholic pancreatitis, have clearly shown that this disease is chronic from the beginning and that, if acute necrotic pancreatitis occurs, it is associated with chronic lesions. The possibility that acute alcoholic pancreatitis can occur in the absence of chronic lesions cannot be excluded, but, if this occurs, it is rare. In addition to alcohol, genetic factors certainly play a determining role. Until now many genetic studies have been made on chronic pancreatitis; the first dealt with hereditary pancreatitis. In this disease it has been shown that mutations of the cationic trypsinogen gene and of SPINK1 are implicated in its pathogenesis. Concerning alcoholic pancreatitis, several studies have been made, but the results so far are disappointing.
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PMID:Alcoholic pancreatitis: new insights into an old disease. 1580 96

Chronic pancreatitis: Only recently mutations in several genes were found in patients with chronic pancreatitis. In those with a familial chronic pancreatitis mutations of the cationic trypsinogen were identified and the variants N29I and R122H lead to an autosomal dominant disease. In this group of patients the mutation N34S of the trypsin inhibitor SPINK1 was detected. In so-called idiopathic pancreatitis both variants of the SPINK1 and of the CFTR (cystic fibrosis transmembrane conductance regular) were identified. Alterations in both genes were also found in patients with alcoholic chronic pancreatitis. The strongest risk factor for chronic pancreatitis were trypsinogen mutations N29I and R122H mutations. However, both SPINK1 and CFTR increased the risk for chronic pancreatitis to a higher level than alcohol consumption. A genetic investigation should be performed in familial disease and younger age, but also in patients without family history and higher age a mutation could be found. Pancreas cancer: In 10% of the patients with pancreas cancer other members of the family were affected from the disease. Some of them belong to well characterized familial syndroms like HNPCC or Peutz-Jeghers-syndrom. In a minority of the others a genetic factor may be found, too. In sporadic disease the development of the tumor is characterized by continued acquirement of genetic alterations described by the PanIN model (pancreatic intraepithelial neoplesia). This means that the evolution of the neoplasia progresses from normal tissue via epithelial hyperplasy (PanIN 1A), papillary hyperplasy without (PanIN 1B) and with dysplasy (PanIN 2) and carcinoma in situ (PanIN 3) to invasive pancreas cancer. The progression is associated with genetic alterations of the cells (mutations of ki-ras, p16, p53 etc.). This results in deterioration of control of the cell cycle and the apoptosis and explains the malignancy of the disease. These findings may be used in the future to develop newer therapeutic principles in order to improve the dismal prognosis of this disease.
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PMID:[Chronic pancreatitis--pancreas cancer: influence of genetic factors]. 1595 15

More than twenty years ago Rinderknecht et al. identified a minor trypsin isoform resistant to natural trypsin inhibitors in the human pancreatic juice. At the same time, Estell and Laskowski found that an inhibitor-resistant trypsin from the pyloric caeca of the starfish, Dermasterias imbricata rapidly hydrolyzed the reactive-site peptide bonds of trypsin inhibitors. A connection between these two seminal discoveries was made recently, when human mesotrypsin was shown to cleave the reactive-site peptide bond of the Kunitz-type soybean trypsin inhibitor, and degrade the Kazal-type pancreatic secretory trypsin inhibitor. These observations indicate that proteases specialized for the degradation of protease inhibitors are ubiquitous in metazoa, and prompt new investigations into their biological significance. Here we review the history and properties of human mesotrypsin, and discuss its function in the digestive degradation of dietary trypsin inhibitors and possible pathophysiological role in pancreatitis.
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PMID:Human mesotrypsin defies natural trypsin inhibitors: from passive resistance to active destruction. 1602 58

There was some recent progress in the understanding of genetic risk factors in chronic pancreatitis. Due to this progress some of the traditional views of the subject will change. Today, genetic risk factors are attributed a much more important role that in the past. The frequency and strength of mutations were higher than expected. Strong variants were the rare autosomal-dominant mutations N29I and R122H of PRSS1 (cationic trypsinogen) and homozygous N34S of SPINK1 (pancreatic secretory trypsin inhibitor). Other mutations (heterozygous N34S, CFTR) were of lower relevance but still mediate a higher risk than alcohol consumption. The course of genetically determined pancreatitis is rather mild. In the long term pancreas cancer was found in some patients but apart from non-smoking no adequate prophylactic strategy is available up to now.
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PMID:Genetics of pancreatitis. 1611 Oct 90

Acute pancreatitis is uncommon in children younger than 15 years. We present the first report on the association of acute pancreatitis with the Netherton syndrome. The Netherton syndrome is an inherited skin disease characterized by ichthyosiform erythroderma, a pathognomonic hair shaft defect ("bamboo hair"), and atopic features. A 14-year-old girl with symptoms and signs of severe acute pancreatitis was admitted to our department. A diagnostic workup could not reveal any common known cause of pancreatitis, and the cause of pancreatitis would most likely be considered idiopathic. However, based on recent reports regarding various pathophysiological mechanisms for both acute pancreatitis and the Netherton syndrome (eg, shearing the 5q locus for the respective gene-associated defects in SPINK1 and SPINK5), we speculate if a possible association may exist. Investigations on pancreatitis and the Netherton syndrome may disclose factors closely involved in the pathomechanisms of both. This notion may be of clinical importance as it adds to the number of potential life-threatening events to patients with the Netherton syndrome.
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PMID:Acute pancreatitis in a young girl with the Netherton syndrome. 1629 Nov 48

Trypsinogens and PSTI/TATI/SPINK1 are expressed, usually together, at high levels by the pancreas but also by many other normal and malignant tissues. The present review describes studies on the expression and putative functions of trypsinogens and PSTI/TATI/SPINK1 in the human body. The clinical aspects are discussed, including the correlations between expression of trypsinogens and PSTI/TATI/SPINK1 in tissues, serum, and urine of patients with pancreatitis or cancer and clinicopathological characteristics, i.e., the roles of trypsinogens and PSTI/TATI/SPINK1 in spontaneous and hereditary pancreatitis, tumor progression, and prognosis.
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PMID:Biochemistry and clinical role of trypsinogens and pancreatic secretory trypsin inhibitor. 1651 20

A wide range of mutations and polymorphisms in genes that relate to pancreatic function seem to be involved in the development of pancreatitis. Some of these genetic alterations lead to disease phenotypes with unequivocal mendelian inheritance patterns, whereas others seem to act as modifier genes in conjunction with environ-mental or, as yet unidentified, genetic cofactors. This article reviews germline changes in the genes for trypsin, pancreatic secretory trypsin inhibitor, the cystic fibrosis conductance regulator, lipid metabolism proteins, inflammatory mediators for cytokines, and cathepsin B.
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PMID:Germline mutations and gene polymorphism associated with human pancreatitis. 1663 93


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