Arthropathy in juvenile hemochromatosis

Characteristics of the arthropathy described in hereditary hemochromatosis.

Hereditary hemochromatosis (HH) is a common inherited metabolic disorder characterized by systemic iron overload (1,2). HH affects approximately 1 in 200 people and is most common in persons of Northern European origin. Organ damage in the pancreas, liver, heart, endocrine glands, skin, and joints has been described in HH. There is evidence that the frequency and extent of organ damage may be c...

A mouse model of juvenile hemochromatosis.

Hereditary hemochromatosis is an iron-overload disorder resulting from mutations in proteins presumed to be involved in the maintenance of iron homeostasis. Mutations in hemojuvelin (HJV) cause severe, early-onset juvenile hemochromatosis. The normal function of HJV is unknown. Juvenile hemochromatosis patients have decreased urinary levels of hepcidin, a peptide hormone that binds to the cellu...

Reversible cardiomyopathy in a patient with juvenile hemochromatosis.

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

Juvenile or type 2 hemochromatosis (JH) is transmitted as a recessive trait that leads to severe iron overload and organ damage typically before age 30 years. Linkage to a locus on chromosome 1q has been found in most patients with JH. The recently identified causal gene encodes hemojuvelin, a protein with a proposed crucial role in iron metabolism. A second, rare type of JH, with clinical expr...

[Juvenile tabes arthropathy: a report of three cases].

The authors report three cases revealed by tabes arthropathy in patients younger than 45 years. The age of patients was respectively 42, 40, 42. The clinical symptoms consisted of a painless knee strain, isolated in one case, associated with radiculocordonal posterior syndrome in two cases. The radiological lesions showed bone destruction. The biological assessment was for a venereal disease. T...