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Hereditary pancreatitis (HP) is an inflammation of the pancreas due to genetic causes. It was first described in 1952 by Comfort and Steinberg [ 1 ] but it was not until 1996 that Whitcomb et al [ 2 ] isolated the first responsible mutation in the trypsinogen gene ( PRSS1 ) on the long arm of chromosome seven ( 7q35 ).
Mutations in SPINK1 has been associated with hereditary pancreatitis and tropical pancreatitis. Trypsinogen is normally created and stored an inactive zymogen of trypsin in the pancreas, but occasionally will autoactivate itself. PSTI serves to cleave prematurely activated trypsin to prevent the enzyme from causing cellular damage to the organ.
The European Registry of Hereditary Pancreatitis and Pancreatic Cancer (EUROPAC) was started by John Neoptolemos and colleagues [1] in 1997 and has become the world’s most extensive study on hereditary pancreatic diseases. It enabled discovery of several genetic characteristics causative for hereditary pancreatitis and familial pancreatic cancer.
Pancreatitis is inflammation of the pancreas. There are two forms of pancreatitis, which are different in causes and symptoms, and require different treatment: Acute pancreatitis is a rapid-onset inflammation of the pancreas, most frequently caused by alcoholism or gallstones. Less frequent but important causes are hypertriglyceridemia, drugs ...
John P. Neoptolemos is a British surgeon and professor who specialised in pancreas research. [1] [2] His specific areas of research are diagnosis, [3] biological predictors of treatment response [4] [5] and therapies of pancreatic cancer [6] [7] [8] as well as acute, chronic, and hereditary pancreatitis.
Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack or reduction of digestive enzymes made by the pancreas.EPI can occur in humans and is prevalent in many conditions [1] such as cystic fibrosis, [2] Shwachman–Diamond syndrome, [3] different types of pancreatitis, [4] multiple types of diabetes mellitus (Type 1 and Type 2 diabetes), [5] advanced ...
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Acute pancreatitis (AP) is a sudden inflammation of the pancreas.Causes include a gallstone impacted in the common bile duct or the pancreatic duct, heavy alcohol use, systemic disease, trauma, elevated calcium levels, hypertriglyceridemia (with triglycerides usually being very elevated, over 1000 mg/dL), certain medications, hereditary causes and, in children, mumps.
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