Lysosomal lipid storage diseases in children. Modern diagnostic and treatment methods
https://doi.org/10.21518/2079-701X-2016-1-128-135
Abstract
One of the causes of hepatomegaly in children are rare (orphan) diseases associated with congential metabolic disorders. Starting from 2008, the last day of February is Rare Disease Day. As a rule, knowing that the child has a congenital metabolism disorder does not inspire pediatrician's optimism because of poor prognosis and ineffective therapy. However today, new drugs are emerging that can improve the quality of life of patients with orphan diseases. The main target of the pediatrician is timely diagnosis which allows to prescribe replacement enzyme therapy.
About the Authors
I. N. Zakharova
Russian Medical Academy of Postgraduate Education
Russian Federation
Russian Federation
А. N. Goryaynova
Russian Medical Academy of Postgraduate Education
Russian Federation
Russian Federation
I. D. Maikova
Children's Clinical Hospital named after Z.A. Bashlyaeva
Russian Federation
Russian Federation
N. V. Koroid
Children's Clinical Hospital named after Z.A. Bashlyaeva
Russian Federation
Russian Federation
L. P. Katasonova
Children's Clinical Hospital named after Z.A. Bashlyaeva
Russian Federation
Russian Federation
O. I. Elfimova
Children's Clinical Hospital named after Z.A. Bashlyaeva
Russian Federation
Russian Federation
N. E. Kuzina
Children's Clinical Hospital named after Z.A. Bashlyaeva
Russian Federation
Russian Federation
E. A. Dikova
Children's Clinical Hospital named after Z.A. Bashlyaeva
Russian Federation
Russian Federation
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Review
For citations:
Zakharova IN, Goryaynova АN, Maikova ID, Koroid NV, Katasonova LP, Elfimova OI, Kuzina NE, Dikova EA. Lysosomal lipid storage diseases in children. Modern diagnostic and treatment methods. Meditsinskiy sovet = Medical Council. 2016;1(1):128-135. (In Russ.) https://doi.org/10.21518/2079-701X-2016-1-128-135
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