title: [Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation].
abstract: OBJECTIVE
  To characterize the genotype and genotype-phenotype correlations in patients with Gaucher disease (GD) in the Russian Federation.
  
  
  METHODS
  One hundred adult patients with GD type 1 were examined. Their clinical study encompassed the evaluation of the severity of osteoarticular lesions from instrumental findings. An allele-specific real-time polymerase chain reaction assay was used to screen four most common acid beta-glucoside gene (GBA) mutations (N370S, 84GG, L444P, IVS2+1).
  
  
  RESULTS
  The N370S mutation and the N370S/? genotype where the second allele was presented with the mutation outside the 4 most common GBA gene mutations were found in the Russian patients with GD. Analysis of the clinical manifestations of the disease revealed no association between the genotype under examination and the severity of osteoarticular lesions and supported the unfavorable role of splenectomy (SE) in the development of severe bony disease.
  
  
  CONCLUSIONS
  SE should be carried out in patients with unclear cytopenia and splenomegaly after the diagnosis of GD is excluded. The GD patients undergoing SE should receive emergency enzyme replacement therapy to prevent severe osteoarticular lesions and an irreversible orthopedic defect.
authors.forename: K A
authors.initials: KA
authors.lastname: Lukina
authors.forename: I S
authors.initials: IS
authors.lastname: Fevraleva
authors.forename: E P
authors.initials: EP
authors.lastname: Sysoeva
authors.forename: B E
authors.initials: BE
authors.lastname: Mamonov
authors.forename: A B
authors.initials: AB
authors.lastname: Sudarikov
authors.forename: E A
authors.initials: EA
authors.lastname: Lukina
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics* / Q000378:metabolism / Q000627:therapeutic use; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012426:Russia; D055815:Young Adult
chemical_list: D005962:Glucosylceramidase