Abstract：
AIM:To characterize the genotype and genotype-phenotype correlations in patients with Gaucher disease (GD) in the Russian Federation. MATERIALS AND 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. CONCLUSION: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.
journal_name
Ter Arkhjournal_title
Terapevticheskii arkhivauthors
Lukina KA,Fevraleva IS,Sysoeva EP,Mamonov BE,Sudarikov AB,Lukina EAsubject
Has Abstractpub_date
2013-01-01 00:00:00pages
72-5issue
7eissn
0040-3660issn
2309-5342journal_volume
85pub_type
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