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 characterized by periodic episodes of inflammation and loss of exocrine and endocrine function of the pancreas. Hereditary pancreatitis is an autosomal dominant disorder with an 80% penetrance, is associated with recurrent episodes of pancreatitis starting in early childhood and correlated to an increased risk of pancreatic cancer. The pathogenesis of chronic and hereditary pancreatitis is not yet fully understood. Patients suffering from chronic pancreatitis present with belt-like abdominal pain, weight loss, and often diabetes mellitus. The diagnosis is made by a combination of imaging procedures such as ultrasound and endoscopic retrograde cholangiopancreatography and exocrine and endocrine function tests. Therapy is restricted to symptom control. Approximately 30-60% of all patients develop disease-associated complications such as persistent pain, strictures of the common bile duct, or pancreatic duct stones which require either interventional or surgical treatment.
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PMID:[Chronic pancreatitis. Diagnosis and treatment]. 1520 51

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.
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PMID:[Hereditary pancreatitis in a child]. 1968 34

Hereditary pancreatitis is an autosomal dominant disorder with 80% penetrance and variable expressivity. The vast majority of cases have been linked to mutations within the cationic trypsinogen gene, also referred to as serine protease 1 (PRSS1). Other than inheritance, PRSS1 pancreatitis has been considered clinically and pathologically indistinguishable from other etiologies of chronic pancreatitis. However, to date, the histologic findings of PRSS1 pancreatitis have not been well described. We, therefore, collected pancreatic specimens from 10 PRSS1 patients of various ages and examined their clinicopathologic features. Patients at the time of resection ranged in age from 9 to 66 years (median, 29 y), with a slight female predominance (60%). All patients reported a history of intermittent abdominal pain, with an age of onset ranging from infancy to 21 years of age. Examination of the gross and microscopic findings suggested a sequential pattern of changes with increasing patient age. In pediatric patients (n=4), although in most cases the pancreas was grossly normal, there was microscopic variation in lobular size and shape. Although the central portions of the pancreas displayed parenchymal loss accompanied by loose perilobular and interlobular fibrosis, the periphery was remarkable for replacement by mature adipose tissue. These changes were more developed in younger adults (n=2), in whom fatty replacement seemed to extend from the periphery to the central portions of the pancreas. With older patients (n=4), the pancreas showed marked atrophy and extensive replacement by mature adipose tissue with scattered islets of Langerhans and rare acinar epithelium concentrated near the main pancreatic duct. In summary, PRSS1 hereditary pancreatitis is characterized by progressive lipomatous atrophy of the pancreas.
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PMID:The histopathology of PRSS1 hereditary pancreatitis. 2452 5

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. 2817 71


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