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Hereditary pancreatitis: Wikis

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Hereditary pancreatitis
Classification and external resources
OMIM 167800
DiseasesDB 30026

Hereditary Pancreatitis is a genetic disease affecting enzyme production in the pancreas.[1] In the pancreas, a genetic mutation causes the enzyme cationin trypsinogen to be made in a way which renders it resistant to inactivation through autolysis. Normally this autolysis mechanism prevents trypsinogen from being activated within the pancreas. However, when the abnormal trypsinogen is activated, it causes a chain reaction where all the trypsinogen in the pancreas is activated, effectively digesting the pancreas from the inside.

It can be associated with PRSS1 and SPINK1.[2]

Symptoms and Treatment

Symptoms are generally the same as acute pancreatitis, including severe abdominal pain, vomiting, and constipation. There is no treatment for the disease, although complications such as malnutrition can be treated with supplementary pancreatic enzymes.

Most estimates place the number of individuals with hereditary pancreatitis in the United States at 1000.

References

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