Fabry Disease: Symptoms in Children and Teenagers
https://doi.org/10.15690/vsp.v14i3.1369
Abstract
Fabry disease is a serious degenerative hereditary disorder, which is referred to as a lysosomal storage disease and is a form of sphingolipidosis. Fabry disease often starts in childhood and adolescence, although the complete clinical manifestation occurs in adulthood. Early diagnostic is often difficult due to polymorphic clinical picture, untypical initial symptoms and doctors’ low level of awareness. Fabry disease patients should undergo a special kind of pathogenetic enzyme replacement therapy. Timely diagnosis and prompt treatment can prolong life expectancy and improve life quality.
About the Authors
L. М. Kuzenkova
Scientific Centre of Children Health, Moscow, Russian Federation
I.M. Sechenov First Moscow State Medical University, Russian Federation
Russian Federation
Russian Federation
L. S. Namazova-Baranova
Scientific Centre of Children Health, Moscow, Russian Federation
I.M. Sechenov First Moscow State Medical University, Russian Federation
Pirogov Russian National Research Medical University, Moscow, Russian Federation
Russian Federation
Russian Federation
Т. V. Podkletnova
Scientific Centre of Children Health, Moscow, Russian Federation
Russian Federation
Russian Federation
А. K. Gevorkyan
Scientific Centre of Children Health, Moscow, Russian Federation
Russian Federation
Russian Federation
N. D. Vashakmadze
Scientific Centre of Children Health, Moscow, Russian Federation
Russian Federation
Russian Federation
K. V. Savostyanov
Scientific Centre of Children Health, Moscow, Russian Federation
Russian Federation
Russian Federation
V. М. Studenikin
Scientific Centre of Children Health, Moscow, Russian Federation
I.M. Sechenov First Moscow State Medical University, Russian Federation
Russian Federation
Russian Federation
S. А. Pushkov
Scientific Centre of Children Health, Moscow, Russian Federation
Russian Federation
Russian Federation
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Review
For citations:
Kuzenkova L.М., Namazova-Baranova L.S., Podkletnova Т.V., Gevorkyan А.K., Vashakmadze N.D., Savostyanov K.V., Studenikin V.М., Pushkov S.А. Fabry Disease: Symptoms in Children and Teenagers. Current Pediatrics. 2015;14(3):341-348. (In Russ.) https://doi.org/10.15690/vsp.v14i3.1369
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