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Genetic condition characterized by recurrent episodes of painful pancreatic attacks, which can progress to chronic pancreatitis.

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Inherited disorder characterized by relapsing chronic pancreatitis. First described by Comfort and Steinberg in 1952.

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It is the most common form of chronic relapsing pancreatitis in childhood. May account for approximately 25% of adult cases with chronic idiopathic pancreatitis. Equal sex predilection. At least 1000 individuals in the United States are affected with hereditary pancreatitis.

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Autosomal dominant disorder with incomplete penetrance. Hereditary pancreatitis is mainly caused by a mutation of exon 3 of the cationic trypsinogen gene (protease-serine 1 gene, PRSS-1), resulting in an arginine to histidine substitution. Gene map locus is 7q35.

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Inherited condition characterized by typical symptomatology and laboratory features of pancreatitis. Pancreatitis results from inappropriate activation of pancreatic proenzymes. Active trypsin is normally inhibited by a limited supply of trypsin inhibitor. If trypsin activity exceeds the inhibitory capacity of pancreatic secretory trypsin inhibitor, then proenzymes, including mesotrypsin and enzyme Y, are activated. The activation of these enzymes is postulated to be part of a feedback mechanism for inactivating wild-type trypsinogen, trypsin, and other zymogens. When the Arg117 cleavage site for mesotrypsin, enzyme Y, and trypsin is replaced by histidine, trypsin continues to activate trypsinogen and other zymogens unabated, leading to autodigestion of the pancreas and pancreatitis. Congenital anomalies of the pancreatic duct or biliary duct system may play a role. The histopathologic findings of pancreatitis are related to the release of activated proteolytic and lipolytic enzyme. Interstitial edema and blood vessel disruption (thrombosis in the portal or splenic vein occurs with an inflammatory response) may appear early. As pancreatitis progresses, necrosis may appear, leading to hemorrhage hereditary pancreatitis with hyperparathyroidism in the multiple endocrine adenomatosis syndrome.

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Based on a positive family history of pancreatitis and early onset of symptoms. Characterized by the presence of calculi in pancreatic ducts. Serum amylase (measured up to 4 days) is elevated and lipase activity may be elevated for 8 to 14 days. A puzzling feature is the urinary excretion of lysine and cystine by about half the members of affected kindred (with or without pancreatitis). Endoscopic retrograde cholangiopancreatography is diagnostic for chronic pancreatitis and shows a distorted duct with multiple strictures and dilatations similar to a “chain of lakes” pattern. Children may have complications seen in pancreatitis—pseudocysts, diabetes mellitus, thrombosis of portal or splenic veins, coagulopathy, pleural effusions, and pulmonary edema.

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May present with symptoms of pancreatitis late in the first decade. Typical recurrent abdominal pain starting in childhood. Diagnosis confirmed by laboratory studies. Children may be well during attacks. The attacks were characterized by severe abdominal pains, fever, and marked elevation of serum amylase. Pancreatic insufficiency (5.5%), diabetes mellitus (12.5%), pseudocysts (5.5%), and hemorrhagic pleural effusion were observed in a review of 72 patients. Portal vein thrombosis occurred in two patients and was suspected in three other patients. Patients seemed to improve later ...

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