"Juvenile hemochromatosis"

Juvenile haemochromatosis. Juvenile haemochromatosis is a severe inherited iron-loading disorder that can present in children and adolescents. Typical manifestations include heart failure, endocrine failure (including diabetes and hypogonadism), cirrhosis, and arthropathy. Compared with HFE haemochromatosis, juvenile haemochromatosis affects female and male individuals similarly, presents at a younger age, and causes multiple organ dysfunction; the principle of iron loading into tissues from the gut is shared by both forms, but the process is far more rapid in juvenile haemochromatosis. Juvenile haemochromatosis is initially recognised by extreme increases of serum ferritin and transferrin saturation, which is supported by an MRI showing iron deposition in the heart and liver. MRI software

Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyopathy without a clear cause. A young Serbian male presenting with end-stage heart such that a successful biventricular assist device explant occurred 131 days after initial implant. Targeted gene sequencing revealed a loss-of-function mutation within the HJV gene, which is consistent with juvenile hemochromatosis. This rare case of a patient with juvenile hemochromatosis associated with a HJV mutation provides histologic evidence documenting the reversal of associated end-stage heart failure

Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox Juvenile hemochromatosis (JH) is a rare condition classified as an autosomal recessive disorder that leads to severe iron absorption. JH usually affects people under the age of 30 and presents symptoms such as chronic liver damage, hypogonadotropic hypogonadism, cardiac diseases

Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis. Hemochromatosis, an iron-overload disease, occurs as adult and juvenile types. Mutations in hemojuvelin (HJV), an iron-regulatory protein and a bone morphogenetic protein (BMP) coreceptor, underlie most of the juvenile type. Hjv(-/-) mice accumulate excess iron in retina

Juvenile Hemochromatosis in Iran: A Case Report with 5-Year Follow-up after Treatment Juvenile hemochromatosis is a rare autosomal recessive disorder that typically occurs in the first to third decades of life. Its symptoms are more acute and severe than classic hemochromatosis. We describe a 27-year-old man who was referred to the gastrointestinal clinic with a probable diagnosis of fatty liver and was finally diagnosed as having juvenile hemochromatosis. A review of the scientific literature reveals that recently only three siblings suffering from the disease have been reported in Iran.

), can fine-tune signaling by regulating the interaction of the BMP ligands with the BMPRs. The functional annotation of the BMPR encoding genes has helped to understand underlying mechanisms of diseases in which these genes are mutated. Loss of function mutations in BMPRII, Endoglin or RGMc are causally linked to pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia and juvenile hemochromatosis, respectively. In contrast, gain of function mutations in ACVR1, encoding ALK2, are linked to Fibrodysplasia ossificans progressiva and diffuse intrinsic pontine glioma. Here, we discuss BMPR identification, structure and function in health and disease. Moreover, we highlight the therapeutic promise of small chemical compounds that act as selective BMPR kinase inhibitors to normalize overactive

) coreceptor that is disrupted in juvenile hemochromatosis, causing dramatic hepcidin deficiency and tissue iron overload. Hjv mice recapitulate phenotypic hallmarks of hemochromatosis but exhibit blunted hepcidin induction following lipopolysaccharide (LPS) administration. We show that Hjv mice fail to mount an appropriate hypoferremic response to acute inflammation caused by LPS, the lipopeptide FSL1

, symptoms do not appear until middle age (40-60) because it takes time for the iron to build up in the body. Males tend to be affected more often than women and experience symptoms at a younger age as well 3,2. Some carriers for the mutant gene may develop a more severe version of the disorder called juvenile hemochromatosis. With juvenile hemochromatosis, patients experience an excessive amount of iron

the nervous, skeletal, and immune systems. Furthermore, three RGMs (RGMa, RGMb/DRAGON, and RGMc/hemojuvelin) have been linked to the pathogenesis of various disorders ranging from multiple sclerosis (MS) to cancer and juvenile hemochromatosis (JHH). While the molecular details of these (patho)biological effects and signaling modes have long remained unknown, recent studies unveil several exciting and novel

Deletion of Hemojuvelin, an Iron-regulatory Protein, in Mice Results in Abnormal Angiogenesis and Vasculogenesis in Retina along with Reactive Gliosis. Loss-of-function mutations in hemojuvelin (HJV) cause juvenile hemochromatosis, an iron-overload disease. Deletion of Hjv in mice results in excessive iron accumulation and morphologic changes in the retina. Here, we studied the retinal

of hemochromatosis have been identified: juvenile hemochromatosis (JH) or type 2 (gene HFE2), which has been mapped to band 1q21, [19, 20] and an adult form defined as hemochromatosis type 3 (HFE3), which results from mutations of the transferrin receptor 2 gene (TfR2) located on band 7q22. The clinical appearance of different types of hemochromatosis could be similar. This speculation also relates to JH with late homozygous for the C282Y mutation in HFE. [44] However, only half the homozygotes had clinical features of hemochromatosis, and one quarter had serum ferritin levels that remained within the reference range over a 4-year period. The G320V mutation seems to be widely distributed among juvenile hemochromatosis patients from central Europe and Greece. [45] Therefore, detection of the G320V mutation could

chronically loaded with iron. [91] The 2 compounds were administered individually or in combination with vitamin C (vitamin C was used as the antioxidative compound aimed at preventing heart oxidative injury). Additional administration of vitamin C improved histopathologic changes and biochemical markers in the heart. [91] Juvenile hemochromatosisThe first patient affected by juvenile hemochromatosis . [QxMD MEDLINE Link]. 19. Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004 Jan. 36(1):77-82. [QxMD MEDLINE Link]. 20. Papanikolaou G, Politou M, Roetto A, et al. Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Mol Dis. 2001 Jul-Aug. 27(4

of hemochromatosis have been identified: juvenile hemochromatosis (JH) or type 2 (gene HFE2), which has been mapped to band 1q21, [19, 20] and an adult form defined as hemochromatosis type 3 (HFE3), which results from mutations of the transferrin receptor 2 gene (TfR2) located on band 7q22. The clinical appearance of different types of hemochromatosis could be similar. This speculation also relates to JH with late homozygous for the C282Y mutation in HFE. [44] However, only half the homozygotes had clinical features of hemochromatosis, and one quarter had serum ferritin levels that remained within the reference range over a 4-year period. The G320V mutation seems to be widely distributed among juvenile hemochromatosis patients from central Europe and Greece. [45] Therefore, detection of the G320V mutation could

chronically loaded with iron. [91] The 2 compounds were administered individually or in combination with vitamin C (vitamin C was used as the antioxidative compound aimed at preventing heart oxidative injury). Additional administration of vitamin C improved histopathologic changes and biochemical markers in the heart. [91] Juvenile hemochromatosisThe first patient affected by juvenile hemochromatosis . [QxMD MEDLINE Link]. 19. Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004 Jan. 36(1):77-82. [QxMD MEDLINE Link]. 20. Papanikolaou G, Politou M, Roetto A, et al. Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Mol Dis. 2001 Jul-Aug. 27(4

Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice. Here we investigate the regulation of hepcidin, a hormone that inhibits dietary iron absorption and macrophage iron recycling, by the serum iron-binding protein transferrin. Mice deficient in transferrin (Tf(hpx/hpx)) and hemojuvelin (Hjv(-/-)), a gene mutated in juvenile hemochromatosis

(human homeostatic iron regulator) gene * Type 2 (juvenile hemochromatosis): Mutations in the HJV (hemojuvelin BMP co-receptor) and HAMP (hepcidin antimicrobial peptide) genes * Type 3: Mutations in the TFR2 (transferrin receptor 2) gene * Type 4 (ferroportin disease): Mutations in the SLC40A1 (solute carrier family 40 member 1) gene Other much rarer genetic disorders can of the gene (ie, many homozygous people do not manifest the disorder). Type 2 hereditary hemochromatosis Type 2 hereditary hemochromatosis (juvenile hemochromatosis) is a rare autosomal recessive disorder caused by mutations in the HJV gene that affect the transcription protein hemojuvelin or mutations in the HAMP gene, which directly codes for hepcidin. It often manifests in adolescents. Type 3 hereditary

recessive or dominant). Then, two main entities can be differentiated: genetic (adult or juvenile) hemochromatosis characterized by elevated TfSat, and hereditary hyperferritinemias where TfSat is normal (or only slightly modified). Adult genetic hemochromatosis (GH) is related mainly to mutations of the HFE gene, and exceptionally to mutations of the TFR2 gene. Juvenile GH is a rare condition related

Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene. Hemochromatosis is a genetically heterogeneous condition. Mutations in the recently described hemojuvelin gene were found in patients with juvenile hemochromatosis, who usually manifest clinical signs of iron overload, including cardiomyopathy and hypogonadism, in their teens and early 20s

HJV gene mutations in European patients with juvenile hemochromatosis. A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients with the severe iron overload disorder juvenile hemochromatosis (JH). The aim of the present study was to evaluate the molecular background of JH in patients from central parts of Europe. Sequence