Pancreatitis hereditary

Hereditary hemochromatosis is an autosomal recessive disease of increased intestinal iron absorption and deposition in hepatic, cardiac, and pancreatic tissue. Hepatic iron overload results in the development of fibrosis, hepatic scarring, cirrhosis, and hepatocellular carcinoma. Hemochromatosis can also be caused by repeated blood transfusions, but this mechanism rarely leads to cirrhosis. 

BRCAl and BRCA2 are frequently mutated in a variety of human cancers. Breast cancer is the most common malignancy in women. A total of more than a million women will be diagnosed with breast cancer worldwide with more than 400,000 deaths annually. The germ line mutations of BRCAl/2 are associated with hereditary breast cancer which account for 5-7% of all breast cancer cases (12, 13). Ovarian cancer is the leading cause of death from gynecological cancer with more than 140,000 deaths annually worldwide. The germ line and somatic BRCAl/2 mutations have been reported to occur in approximately 10% of ovarian cancer patients (14, 15). BRCAl/2 mutations have also been shown to occur frequently in Ashkenazi Jewish families with pancreatic cancer (16). 

C9. Cohen, D. H., Feiner, H., Jensson, O., and Frangione, B., Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, gamma trace. J. Exp. Med. 158(2), 623-628 (1983). 

Hereditary pancreatitis cationic trypsinogen gene mutations, trypsin inhibitor gene mutations Pancreatic insufficiency syndrome... 

The prevalence of pancreatitis varies widely with geographic area, etiologic factors (e.g., alcohol consumption), and environmental or hereditary factors. The overall prevalence of AP in males and females in the United States is estimated to be less than 1%, whereas the prevalence of CP is 0.05% in males and 0.01% in females. The reported prevalence of AP and CP most likely underestimates the true spectrum of these diseases. Alcoholic CP is more common in men and has a peak incidence between 35 and 45 years of age. Blacks are two to... 

Vitamin D and its metabolites play an important role in the maintenance of extracellular calcium concentrations and in normal skeletal structure and mineralization. Vitamin D is necessary for the optimal absorption of calcium and phosphorus. On a worldwide basis, the most common cause of hypocalcemia is nutritional vitamin D deficiency. In malnourished populations, manifestations include rickets and osteomalacia. Nutritional vitamin D deficiency is uncommon in Western societies because of the fortification of miUc with ergocalciferol. " The most common cause of vitamin D deficiency in Western societies is gastrointestinal disease. Gastric surgery, chronic pancreatitis, small-bowel disease, intestinal resection, and bypass surgery are associated with decreased concentrations of vitamin D and its metabolites. Vitamin D replacement therapy may need to be administered by the intravenous route if poor oral bioavailability is noted. Decreased production of 1,25-dihydroxyvitamin D3 may occur as a result of a hereditary defect resulting in vitamin D-dependent rickets. It also can occur secondary to chronic renal insufficiency if there is insufficient production of the 1 -a -hydroxylase enzyme for the... 

Fig. 4.20. Hereditary pancreatitis. CT image of shrunken pancreas with calcifications. The patient s father had a similar CT appearance...

Chronic pancreatitis is a rare entity in children. Amongst the principal causes of chronic pancreatitis are hereditary pancreatitis, autoimmune conditions (sclerosing cholangitis), and CF. CT features of chronic pancreatitis include a focal or diffuse increase in pancreatic size, dilatation of the main pancreatic duct (almost always present), intraductal calcifications, or pseudocyst formation. ERCP can be used in children with unknown pancreatitis to identify and treat cases of biliary obstruction and structural cases of chronic pancreatitis. 

Hereditary pancreatitis is an autosomal dominant disorder that presents as a dysfunction of the pan-... 

Alcoholism may, at its mature stage, be associated with the development of cirrhosis and pancreatic fibrosis. Under those conditions, approximately 50% of the patients have increased hemosiderin levels. Hemosiderosis is usually associated with increased stores of lead and calcium and reduced zinc and aluminum. When iron is stored, the symptoms and histological picture are similar to what is observed in familial hemochromatosis. Of course, a hereditary factor involving iron absorption or transport may be responsible for iron storage in the liver in a number of chronic alcoholics. 

Lowenfels AB, Maisonneuve P, DiMagno EP etal. (1997) Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. J Natl Cancer Inst 89 442-446... 

In accordance with our interpretation of the term lipidoses as hereditary disorders of lipid metabolism, a review of secondary hyperlipidemias has not been attempted here. Since they are considered as associated phenomena of disorders such as diabetic ketoacidosis, nephrosis or pancreatitis, their exclusion seems to be justifiable. 

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