KINESIOL 1Y03 Chapter 11: genetics of Chronic pancreatitis

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Chronic pancreatitis
= continuing morphological disease of the pancreas causing irreversible morphological
changes and pain/loss of function
- affects 4-10/100 000 people
- causes pain, maldigestion, DM, increased risk of pancreatic ca (generally a cause of
morbidity over mortality)
- diagnosis often at an advanced stage hence need better diagnostic tests; best test right
now is endoscopic USS (EUS)
Aetiology
Genetic
Idiopathic
Recurrent acute pancreatitis
Obstructive
Autoimmune
Toxic-metabolite
Alcoholic: only 10% of alcoholics get it so alcohol is probably a co-factor, with an
elusive underlying genetic mechanism, dependant on individuals (no general
threshold of toxicity)
2 hypotheses for pathogenesis
1) protein plug
2) necrosis-fibrosis
Evaluation of idiopathic pancreatitis:
Sphincter of Oddi dysfunction (papillary stenosis / spasm) may be implicated in 30-55% cases
of idiopathic recurrent acute pancreatitis, Sphincter of Oddi Manometry (SOM) is now part
of the investigative pathway in specialized centres
Embryological defects e.g. pancreatic divisum (failure of dorsal parts of pancreas to fuse
hence failure of drainage) also implicated
Biliary calculi also implicated in some cases
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Document Summary

= continuing morphological disease of the pancreas causing irreversible morphological changes and pain/loss of function. Causes pain, maldigestion, dm, increased risk of pancreatic ca (generally a cause of morbidity over mortality) Diagnosis often at an advanced stage hence need better diagnostic tests; best test right now is endoscopic uss (eus) Alcoholic: only 10% of alcoholics get it so alcohol is probably a co-factor, with an elusive underlying genetic mechanism, dependant on individuals (no general threshold of toxicity: protein plug, necrosis-fibrosis. Sphincter of oddi dysfunction (papillary stenosis / spasm) may be implicated in 30-55% cases of idiopathic recurrent acute pancreatitis, sphincter of oddi manometry (som) is now part of the investigative pathway in specialized centres. Embryological defects e. g. pancreatic divisum (failure of dorsal parts of pancreas to fuse hence failure of drainage) also implicated. Increased trypsin autolysis of pancreas injury acute imflammatory response pancreatitis. Inherited chronic pancreatitis generally caused by single or multiple mutations.

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