منابع مشابه
Pediatric Ferroportin Disease
From the Servicio d Guadalajara, Guadal lidades Médicas, U zServicio de Radiolo dalajara, and the §In Madrid, Spain. Address correspondence Jiménez, PhD, Cen Hospital 12 de Octub (e-mail: moranjimen The authors report no co Copyright # 2016 by E Hepatology, and Nu Gastroenterology, H article distributed un tion-Non Commerci where it is permissib properly cited. The commercially withou DOI: 10.1...
متن کاملFerroportin disease: pathogenesis, diagnosis and treatment
Ferroportin Disease (FD) is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 (FPN) gene. It represents one of the commonest causes of genetic hyperferritinemia, regardless of ethnicity. FPN1 transfers iron from the intestine, macrophages and placenta into the bloodstream. In FD, loss-of-function mutations of FPN1 limit but do not...
متن کاملThe flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin disease.
Ferroportin disease is caused by mutation of one allele of the iron exporter ferroportin (Fpn/IREG1/Slc40a1/MTP1). All reported human mutations are missense mutations and heterozygous null mutations in mouse Fpn do not recapitulate the human disease. Here we describe the flatiron (ffe) mouse with a missense mutation (H32R) in Fpn that affects its localization and iron export activity. Similar t...
متن کاملHuman macrophage ferroportin biology and the basis for the ferroportin disease
Ferroportin (FPN1) is the sole iron exporter in mammals, but its cell-specific function and regulation are still elusive. This study examined FPN1 expression in human macrophages, the cells that are primarily responsible on a daily basis for plasma iron turnover and are central in the pathogenesis of ferroportin disease (FD), the disease attributed to lack-of-function FPN1 mutations. We charact...
متن کاملGenetic disorders of iron overload and the novel "ferroportin disease".
A positive iron balance inevitably leads to iron overload. 1 Excluding red blood cell transfusion, iron loading usually reflects an altered mucosal regulation of iron absorption, observed both in genetic conditions not associated with anemia and in iron-loading anemias. 2,3 The best characterized form of genetic iron overload is a common recessive HLA-linked disorder, initially called idiopathi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Pediatric Gastroenterology & Nutrition
سال: 2016
ISSN: 0277-2116,1536-4801
DOI: 10.1097/mpg.0000000000000648