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

Four family members covering three generations presented with chronic calcifying pancreatitis. A tumor at the pancreas head was detected intraoperatively in a fifth elderly member of the family. Two of the four cases of chronic pancreatitis were diagnosed in childhood and one in adolescence. The fourth patient had typical symptoms during adolescence but the disease was not recognized at that time. Hereditary chronic pancreatitis has an autosomal-dominant inheritance with incomplete penetrance. The pathogenesis is not known. The course of the disease differed between the family members. Duodenal stenosis with gastrointestinal bleeding was observed, but also a more mild development with recurrent pain and long complaint-free intervals. The occurrence of complications and pain appears to decrease with increasing age. The extent of calcification, widening of the duct, exocrine and endocrine pancreatic insufficiency varies. The question of conservative or operative therapy depends on the course of the disease. A Whipple operation was vitally necessary in one child at the age of six. A pancreo-jejunostomy had to be introduced in a further member of the family at the age of 20 years due to an occlusion of the duct. Two patients receive only conservative treatment.
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PMID:[Hereditary chronic calcifying pancreatitis]. 399 19

The patient was a 22 year-old male. Hereditary chronic pancreatitis was suspected as a diagnosis since his mother's uncle had been operated on for chronic pancreatitis 14 years previously at the age of 64 years and his mother had been operated on for chronic pancreatitis with calculi 5 years previously at the age of 40 years. Surgery was needed, since: 1) he had experienced abdominal pain for 8 years; 2) endoscopic retrograde cholangiopancreatography (ERCP) revealed a marked irregular dilatation in the main pancreatic duct and a marked irregular dilatation and protein plugs in the ductule of the tail of the pancreas; and, 3) pancreatic functional diagnostic (PFD) test examination showed a 75% decrease in exocrine function. If a surgical procedure had not been performed, the patient would likely have experienced calculi formation in the pancreas and a further decrease in exocrine function. Since the patient was very young and had many protein plugs in the dilated ductule of the tail of the pancreas, we decided to perform a spleen-preserving Puestow's procedure with removal of the tail of the pancreas. Clinical and pathological findings of hereditary pancreatitis are reviewed.
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PMID:Three generations of hereditary chronic pancreatitis. 1037 Jun 90

Alcohol consumption is the most important etiological factor of chronic pancreatitis (around 70%). Smoking, ethnic-racial predispositions, diets high and low in fat and high in protein may also contribute to the development of chronic pancreatitis. Non-alcoholic chronic pancreatitis of unknown cause makes up 10% to 30% of patients with chronic pancreatitis. Two subgroups have been reported: juvenile (about 25 years) and senile (up 65 years). Tropical pancreatitis has been observed in children and young men in many African and Asian countries. This disease develops because of fat and protein deficiency or nutritional deficiency in general, also due to cyanogenes present in cassava. Hereditary chronic pancreatitis is a rare disease connected with autosomal transmissions. Dr Whitcomb reported, that hereditary chronic pancreatitis developed because of trypsines mutation. Mutant "hypertrypsin" is not inactivated by enzymes; this way it leads to pancreas autodigestion. Obstructive chronic pancreatitis is caused by longterm pancreatic ducts obstruction. In many rare causes leading to chronic pancreatitis among other are: hypercalcaemia, hyperlipoproteinemia, some drugs and pancreatitis associated with autoimmune disorders. Newest information about etiology and pathogenesis of chronic pancreatitis is yielded by recent immunohistochemical research. This research shows increasing irregular improper antigens expression of class I and/or class II MHC in pancreas as well as the role of Transforming Growth Factor Alpha in chronic pancreatitis development. This illness is still a puzzling problem.
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PMID:[Contemporary opinions on the etiology of chronic pancreatitis]. 1050 45

Hereditary chronic pancreatitis associated with a mutation in the serine protease inhibitor, Kazal Type-1 (SPINK-1 gene) is extremely rare. The SPINK1 mutation results in trypsinogen activation which predisposes to chronic pancreatitis predominately when combined with CFTR gene mutations. It presents as either chronic or recurrent acute pancreatitis. Symptom control and management of complications is important. Active surveillance with cross-sectional imaging for pancreatic malignancy in individuals with hereditary pancreatitis is advocated due to individuals being high risk. We present an unusual case of a young male who initially presented with renal colic and was incidentally diagnosed with severe chronic pancreatitis on abdominal imaging, with genetic testing confirming a homozygous SPINK1 mutation.
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PMID:Rare hereditary cause of chronic pancreatitis in a young male: SPINK1 mutation. 2951 28

Hereditary chronic pancreatitis (HCP) is a genetically determined condition characterized by intermittent acute episodes of pancreatitis and long-term impairment of the exocrine and endocrine pancreatic functions. Genetic test results can have substantial psychological and social consequences for the individuals tested and their families. Nevertheless, little is known so far about the subjective experience of individuals genetically tested for HCP. This qualitative study examines the viewpoints of HCP patients and their relatives in order to identify the psychosocial and ethical implications related to genetic testing within families. Semi-structured qualitative individual interviews and a focus group with HCP patients and their family members were conducted. Data were audio-recorded, transcribed verbatim and analysed using qualitative content analysis. A total of 28 individuals were enrolled in the study: 24 individuals (17 patients, 7 relatives) were interviewed in semi-structured one-on-one interviews and 4 individuals (2 patients, 2 life partners) participated in the focus group. Emerging topics covered (1) genetic testing in childhood, (2) genetic testing within the family and (3) family planning. The study reveals that genetic testing for HCP has a wide influence in familial contexts and is accompanied by normative issues, such as autonomy, reproductive decisions and sharing of information within the family. The results raise the awareness of the complexity of family contexts: familial relationships and dynamics can have great influence on the individual decisions related to genetic testing. Increased understanding of these relational contexts can help health professionals, for example, in counselling, to discuss genetic testing better with patients and families.
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PMID:Perceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation. 3278 61