Ацерорулоплазминемия: редкое генетическое заболевание с накоплением железа в мозге.

Aceruloplasminemia is a rare autosomal recessive disorder in which the liver can not synthesize the protein ceruloplasmin properly, which is needed to transport copper around the blood. Copper deficiency in the brain results in neurological problems that generally appear in adulthood and worsen over time. Aceruloplasminemia has been seen worldwide, but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 2 million adults in this population are affected. Aceruloplasminemia belongs to the group of genetic disorders called neurodegeneration with brain iron accumulation (NBIA).

Patients with aceruloplasminemia develop a variety of movement problems. They may experience dystonia of the head and neck, resulting in repetitive movements and contortions. Other involuntary movements may also occur, such as tremors, chorea, blepharospasms, and grimacing. Affected individuals may also experience ataxia, the lack of coordination of muscle movements. Some develop psychiatric problems and midlife dementia. In addition to neurological problems, affected individuals may have diabetes mellitus caused by iron damage to cells in the pancreas that make insulin. This impairs blood sugar regulation and leads to the signs and symptoms of diabetes. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene have the mutation. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagnosis of this disorder depends on blood tests demonstrating the absence of serum ceruloplasmin, combined with low serum copper concentration, low serum iron concentration, high serum ferritin concentration, or increased hepatic iron concentration. MRI scans can also confirm a diagnosis; abnormal low intensities can indicate iron accumulation in the brain.

Children of affected individuals are obligate carriers for aceruloplasminemia. If the CP mutations has been identified in a related individual, prenatal testing is recommended. Siblings of those affected by the disease are at a 25% of aceruloplasminemia. In asymptomatic siblings, serum concentrations of hemoglobin and hemoglobin A1c should be monitored. To prevent the progression of symptoms of the disease, annual glucose tolerance tests beginning in early teen years to evaluate the onset of diabetes mellitus. Those at risk should avoid taking iron supplements.

Treatment includes the use of iron chelating agents (such as desferrioxamine) to lower brain and liver iron stores, and to prevent progression of neurologic symptoms. This, combined with fresh frozen human plasma (FFP) works effectively in decreasing liver iron content. Repetitive use of FFP can even improve neurologic symptoms. Antioxidants such as vitamin E can be used simultaneously to prevent tissue damage to the liver and pancreas.