Genetic condition characterized by recurrent episodes
of painful pancreatic attacks, which can progress to chronic pancreatitis.
Inherited disorder characterized by relapsing chronic
pancreatitis. First described by Comfort and Steinberg in 1952.
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
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.
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
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.
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 ...