alexa Adrenoleukodystrophy | Russian Federation| PDF | PPT| Case Reports | Symptoms | Treatment

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Adrenoleukodystrophy

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  • Adrenoleukodystrophy

    Adrenoleukodystrophy (ALD) refers to several different inherited conditions that affect the nervous system and adrenal glands. Other names for it are adrenomyeloneuropathy, childhood cerebral ALD, and Schilder-Addison Complex. The gene that causes ALD was identified in 1993. It occurs in about 1 in 20,000 people and mainly affects men. Women can carry ALD without having any symptoms. The symptoms, treatments, and prognosis of ALD vary depending on which type is present. ALD is not curable, but the progression can be slowed in some cases.

  • Adrenoleukodystrophy

    The genetic bases for all different phenotypic variants of X-ALD are mutations in the gene encoding the peroxisomal ATP-binding cassette (ABC) transporter, ABCD1 (formerly adrenoleukodystrophy protein, ALDP). ABCD1 transports CoA-activated very long-chain fatty acids from the cytosol into the peroxisome for degradation. The phenotypic variability is remarkable ranging from cerebral inflammatory demyelination of childhood onset, leading to death within a few years, to adults remaining pre-symptomatic through more than five decades. There is no general genotype-phenotype correlation in X-ALD.

  • Adrenoleukodystrophy

    The first quarter of 2015 saw the mortality rate in Russia grow by a surprising 5.2 percent, with analysts particularly puzzled by a 22-percent rise in the death rate among those suffering from respiratory illnesses. Experts are so far reluctant to attribute these figures to a single specific cause.The overall number of people who died in the first quarter of 2015 was 507,000, up 23,500 compared with the first quarter of 2014. The highest increase in mortality (22 percent) occurred among people suffering from respiratory diseases, followed by diseases of the digestive system (10 percent), infectious diseases (6.5 percent), and blood circulation disorders (5 percent). At the same time, infant mortality and mortality from external causes, including murder and suicide, are falling. This trend has been observed for the whole of the country.

 

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