Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chronic pancreatitis is a rare differential diagnosis of obstructive jaundice and/or recurrent abdominal pain in childhood and adolescence. The hereditary calcifying and the noncalcifying obstructive form are the two major forms of juvenile chronic pancreatitis. Other causes include cystic fibrosis, hyperparathyroidism, hyperlipoproteinemia and ascariasis. Even less common is the so called idiopathic or fibrosing pancreatitis. Since the first description by Comfort in 1946 only 41 further cases of juvenile idiopathic fibrosing pancreatitis have been published. An association with gene mutations (PRSS1, SPINK1, CTFR-5T genotype) is suspected. We report the cases of a 17-year-old male patient who presented with painless obstructive jaundice and a 16-year-old female patient who presented with abdominal pain and obstructive jaundice. Both patients underwent surgical treatment with duodenum-preserving pancreatic head resection. The relevant literature with special regard to modern pancreatic surgery is reviewed to give an overview about this rare but surgically treatable pediatric condition, which merits the attention of pediatricians and gastroenterologists in cases of children and adolescents suffering from unexplained abdominal pain.
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PMID:Juvenile idiopathic fibrosing pancreatitis. 1206 96

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

Fibrocalculous pancreatopathy (FCPP) is a secondary form of diabetes mellitus (DM) with obscure etiology. Recently various gene mutations have been reported in patients with FCPP from the Indian subcontinent. Initially termed tropical pancreatic diabetes, FCPP is uncommon and is characterized by pancreatic calcifications. The diagnosis is made in the third decade of life in most patients with the onset of abdominal pain and DM. We report a female child with DM diagnosed at the age of 3 years who had been managed with insulin but was ketosis resistant. The diagnosis of FCPP was made 3 years later. There were no mutations at N34S and P55S in the SPINK1 gene.
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PMID:Juvenile fibrocalculous pancreatopathy--a patient report. 1699 76

Tropical calcific pancreatitis (TCP) is a subtype of chronic pancreatitis which is unique to tropical regions. Patients present at young age with recurrent abdominal pain, nutritional deficiencies, and insulin-requiring diabetes. For a long time, the aetiology of this disorder was poorly understood. Several environmental factors, such as malnutrition or the consumption of toxic food components such as cyanogenic glycosides, were proposed as pathogenic factors. In the last decade, a major impact on the understanding of the aetiology of TCP has come from genetic studies on hereditary and idiopathic chronic pancreatitis. Genetic alterations in at least five genetic loci are clearly associated with chronic pancreatitis in the Western world. These include alterations in genes coding for trypsinogens, the most abundant digestive enzymes (PRSS1 and PRSS2), the trypsin inhibitor (SPINK1) and the trypsin-degrading enzyme, chymotrypsinogen C (CTRC). In addition, alterations in the cystic fibrosis (CFTR) gene are associated with idiopathic pancreatitis. TCP clinically resembles non-alcoholic chronic pancreatitis of Western countries, suggesting that similar genetic defects might also be of importance in this disease entity. Indeed, alterations in at least two genes, SPINK1 and CTRC, are strongly associated with TCP. The current review focuses on the recent developments in the understanding of the genetic basis of inherited pancreatitis, with special emphasis on TCP.
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PMID:Genetic aspects of tropical calcific pancreatitis. 1860 51

Background. The clinical pattern and genetic background of juvenile idiopathic chronic pancreatitis (ICP) are yet unclear. Methods. A retrospective study of 73 Chinese juvenile ICP patients was performed, and genetic tests were carried out to detect relevant mutations using direct sequencing technique and high-resolution melting technique. Subjects without pancreatitis served as controls. Results. The SPINK1 c.194+2T>C variant was present in 56.16% and 42.00% of juvenile and adult ICP patients, respectively (p = 0.020), but was not present in any of the control subjects. Thirty-four (46.58%) of the 73 juvenile ICP patients were male, and a significantly higher ratio of male patients in the adult group was identified (46.58% versus 64.00%, p = 0.022). Although most of the juvenile patients presented with abdominal pain (70/73, 95.89%), the patterns of pain attack are significantly different in patients with or without SPINK1 c.194+2T>C mutation. Patients carrying the mutation are more likely to present with recurrent acute pancreatitis (70.70%). Conclusions. The main symptom of pediatric ICP was abdominal pain. SPINK1 c.194+2T>C mutation had a higher occurrence in juvenile ICP patients than in adult group and typically presented with recurrent acute pancreatitis. There may be unidentified factors that lead to a greater incidence rate of ICP in adult male population.
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PMID:Genetic Background and Clinical Characters of Pediatric Chronic Pancreatitis: Data and Implications from the East. 2834 82

The SPINK1 protein is a potent antiprotease that can inactivate any intrapancreatic trypsin activity that would otherwise induce autodigestion of the pancreas. SPINK1 mutations have been recognized to be associated with chronic pancreatitis in patients without a family history of pancreatitis. We here describe the case of a 24-year-old woman referred to our service for recurrent abdominal pain and search for the cause of chronic calcifying pancreatitis, who was found to carry 2 SPINK1 mutations.
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PMID:Two SPINK1 Mutations Induce Early-Onset Severe Chronic Pancreatitis. 2861 58