P234 Demographic, clinical and genetic characteristics of children with gaucher disease: the data of paediatric registry in russia

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Registers are an effective tool for tracing the dynamics of patients with rare pathologies.


Our aim was to examine the demographic, clinical and genetic features of children with Gaucher disease in Russia.


We held a retrospective survey of the paediatric register data with regard to children suffering from Gaucher disease. The period of data accounting was from 2006 to 2016. Results: 115 children with Gaucher disease aged from 3 months to 17 years (the median age of diagnosis is 5 years) were registered; 62 of them (53.9%) are girls. The prevalence of the disease was 0.32 cases for 1 00 000 children. 95 (82,6%) children had Gaucher disease type 1; 6 (5.2%) — type 2 and 14 (12.2%) — type 3. The highest morbidity was in Central (27; 23,5%) and Volga (27; 23,5%) Federal Districts; and the least — in the Far East (3; 2.6%). At the time of diagnosis all the patients had splengomegaly. The genotype and phenotype correlations in 90 children with Gaucher disease were as follows: in case of type 1 (n=77) there are 21 (27.3%) patients with N370S/L444P genotype and 12 (15.6%) — N370S/other mutation; among 13 children with neuropathic forms (type 2 and type 3) there are 9 (62.9%) children with L444P/L444P genotype and 3 (23,1%) had L444P/D409H. The rest of genotypes were presented by other mutations, 13 of which were revealed for the first time. The p.W223R (p.W184R) mutation is specific for Russian patients. Enzyme replacement therapy was carried out for 109 patients (94,8%): in 105 (96,3%) children (Gaucher disease type 1 and type 3) with imiglucerase and in 4 (3.7%) children with type 1 — with velaglucerase alfa. Pathogenetic therapy stops the main symptoms in most patients.


The paediatric Gaucher disease registry allows to systemize the data concerning the disease course in children and optimising the approaches to its monitoring in Russia.

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