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Diagnosis and treatment of Fabry disease in young children


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The review is devoted to the diagnosis and the features of the treatment of Fabry disease (FD), which being a progressive lysosomal storage disease linked to the X chromosome, is caused by mutations in the GLA gene, which leads to a reduction or complete deficiency of the production of the enzyme a-galactosidase A (a-galA) and is characterized by multi-system pathological manifestations. FD occurs at a frequency of 1 per 1250-117 000 alive male newborns worldwide, according to a neonatal screening in the United States - 1 per 3000-7800 males. There are reported data on prenatal and neonatal studies of FD, there are described the clinical manifestations of the disease, including hearing and vision disorders, there are presented neurological, renal, cardiac and dermatological symptoms. Most often in the onset of the disease in infants there are formed acroparesthesia, gastrointestinal disturbances, intolerance to heat. Particular attention is paid to the organization of monitoring children with CF. There are discussed different approaches to the treatment of FD in children of different ages.

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