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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 ).
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 ...
In chronic pancreatitis, these tests may be normal. [1] Medical imaging such as ultrasound and CT scan may also be useful. [1] Acute pancreatitis is usually treated with intravenous fluids, pain medication, and sometimes antibiotics. [1] Typically eating and drinking are disallowed, and a nasogastric tube is placed in the stomach. [1]
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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.
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