Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper outlines the Danish aspects of HFE-hemochromatosis, which is the most frequent genetic predisposition to iron overload in the five million ethnic Danes; more than 20,000 people are homozygous for the C282Y mutation and more than 500,000 people are compound heterozygous or heterozygous for the HFE-mutations. The disorder has a long preclinical stage with gradually increasing body iron overload and eventually 30% of men will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease and diabetes. Subsequently the disease may progress into irreversible arthritis, liver cirrhosis, cardiomyopathy, pancreatic fibrosis and osteoporosis. The effective standard treatment is repeated phlebotomies, which in the preclinical and early clinical stages ensures a normal survival rate. Early detection of the genetic predisposition to the disorder is therefore important to reduce the overall burden of clinical disease. Population screening seems to be cost-effective and should be considered.
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PMID:Diagnosis and Treatment of Genetic HFE-Hemochromatosis: The Danish Aspect. 3163 72

Fat infiltration in the pancreas is called pancreatic steatosis and it has several synonyms such as pancreatic lipomatosis, non-alcoholic fatty pancreatic disease, lipomatous pseudohypertrophy, fatty replacement, fatty pancreas and fatty infiltration. Pancreatic steatosis describes a disease ranging from infiltration of fat in the pancreas to pancreatic inflammation, and development of pancreatic fibrosis. There are multiple aetiologies of this condition, such as metabolic syndrome, alcohol intake, viral infections, toxins, congenital syndromes, etc. Pancreatic steatosis is usually diagnosed by trans-abdominal ultrasound, computed tomography scan and magnetic resonance imaging. Fatty infiltration in pancreas may lead to pancreatitis, diabetes mellitus and may be a predisposing cause of pancreatic cancer. Now a day, pancreatic steatosis is a common incidental finding during abdominal ultrasonography for other reasons and is a new challenge in Gastroenterology. But there is no guideline for pancreatic steatosis till now. In this review article, we are trying to give an overall idea (aetiologies, diagnosis, management, clinical significances) on pancreatic steatosis.
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PMID:PANCREATIC STEATOSIS: A NEW DIAGNOSIS AND THERAPEUTIC CHALLENGE IN GASTROENTEROLOGY. 3249 Sep 3


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