Fabry’s disease in children: analysis of personal observations, treatment possibilities
| Autor: | A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Zakharova, M. N. Kharabadze, Yu. I. Davydova, S. V. Bochenkov, R. G. Kuramagomedova |
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| Rok vydání: | 2018 |
| Předmět: |
agalsidase alfa
Pediatrics medicine.medical_specialty treatment diagnosis business.industry Genetic counseling gla gene Genetic Examination Disease medicine.disease Fabry's disease fabry’s disease RJ1-570 Angiokeratoma children Pediatrics Perinatology and Child Health medicine Lysosomal storage disease business genetic counselling Depression (differential diagnoses) Rare disease |
| Zdroj: | Rossijskij Vestnik Perinatologii i Pediatrii, Vol 63, Iss 1, Pp 71-77 (2018) |
| ISSN: | 2500-2228 1027-4065 |
| DOI: | 10.21508/1027-4065-2018-63-1-71-77 |
| Popis: | The article is devoted to the rare disease of the lysosomal storage disease group – Fabry’s disease. The disease is associated with the sphingolipids dysmetabolism, is caused by the accumulation of the globotriosylceramide (Gb 3 ) and othersphingolipidsin the organism tissues and cells; it is characterized by the progression and severity of the course. The diagnostic results of 6 patient children aged from 5 to 17 years are analyzed; 2 boys and 4 girls from 3 families. The hereditary burden with a large number of the disease cases, 16 patients in 3 families including 6 children, comes under notice. All 6 children were diagnosed with Fabry’s disease based on the genealogical analysis as well as biochemical and molecular genetic examination. The activity of α-galactosidase A enzyme in the blood leukocytes was significantly decreased in two boys, insignificantly decreased in two sisters, and was normal in two girls. When performing the molecular genetic analysis, 3 mutations in exon 5 of GLA gene were identified. It has been established that the damages of cardiovascularsystem and nervoussystem, kidneys and visual organ, depression of the perspiratory gland function shall be considered as the first clinical signs of the disease in the children; it seems likely that the angiokeratoma appearance is characteristic only for boys. The presence of the non-specific symptoms and signs of the connective tissue dysplasia is noteworthy. The emphasis is made towards the importance of the early Fabry’s disease diagnosis, as it is essential for the timely (prior to appearance of the clinical symptoms and signs) beginning of the pathogenic treatment with the enzyme replacement drug. |
| Databáze: | OpenAIRE |
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