juvenile hemochromatosis造句

• Any one of several mutations in hepcidin result in juvenile hemochromatosis.
• The majority of juvenile hemochromatosis cases are due to mutations in hemojuvelin.
• Some sources only specifically include hemojuvelin as a cause of juvenile hemochromatosis.
• Mutations in HJV are responsible for the vast majority of juvenile hemochromatosis patients.
• The patient is diagnosed with juvenile hemochromatosis.
• Mouse HJV knock-out models confirmed that HJV is the gene responsible for juvenile hemochromatosis.
• For instance, a severe form of iron overload, juvenile hemochromatosis, is a result of severe hepcidin deficiency.
• Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure.
• One insight into the pathogenesis of juvenile hemochromatosis is that patients have low to undetectable urinary hepcidin levels, suggesting that hemojuvelin is a positive regulator of hepcidin, the central iron regulatory hormone.
• Classic examples of genetic iron overload includes hereditary hemochromatosis ( HH ) and the more severe disease juvenile hemochromatosis ( JH ) caused by mutations in either the gene RGMc gene, a member of a three gene repulsive guidance molecule family, ( also called hemojuvelin ( HJV ), and HFE2 ), Hemojuvelin, or the HAMP gene that encodes ( an iron regulatory peptide ).