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3 results on '"K. A. Lukina"'

1. Tuberculous sacroiliitis in a patient with Gaucher disease

Author

E A Lukina, V E Mamonov, K A Lukina, V A Khomenko, M M Pisetskiĭ, and G A Iatsyk

Subjects
bony involvement, lcsh:R, lcsh:Medicine, gaucher's disease, tuberculous sacroiliitis
Abstract

Gaucher disease (GD) is an inherited enzymatic defect resulting from a deficiency of acid Β-glucosidase, a lysosomal enzyme involved in the degradation of cell metabolic products. The major clinical manifestations of GD are hepatosplenomegaly, cytopenia, and bony involvement varying from asymptomatic osteopenia to severest osteoporosis and ischemic necrosis to develop irreversible orthopedic defects. Timely enzyme replacement therapy with recombinant glucosidase makes it possible to arrest disease progression and to prevent damage to the vital organs. However, GD in adult patients is frequently diagnosed in the presence of occurring osteoarticular lesions (arthrosis deformans, abnormal fractures). In these instances, besides enzyme replacement therapy, high-quality orthopedic care is required. The description of the case history of a patient undergoing splenectomy in childhood is given as a clinical example of severe osteoarticular lesion in GD and complex differential diagnosis with the intercurrent disease extrapulmonary tuberculosis.

Published
2013

2. Differential radiological diagnosis of tuberculous sacroiliitis and bone involvement in Gaucher disease: a clinical case

Author

A A Soloveva, R V Ponomarev, K A Lukina, V E Mamonov, V A Khomenko, I E Kostina, G A Yatsyk, and E A Lukina

Subjects
gaucher disease, tuberculosis of bones and joints, differential diagnosis, comprehensive treatment, Medicine
Abstract

Differential diagnosis of bone involvement in patients with Gaucher disease can be challenging. Other diseases with similar radiological signs should be ruled out. Here we present a clinical case of tuberculous sacroiliitis in the patient with type I Gaucher disease. Advanced radiological methods of examination are described. Our case report proves the necessity of an individual approach to the management of such cohort of patients.

Published
2019
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3. Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation

Author

K A Lukina, I S Fevraleva, E P Sysoeva, V E Mamonov, A B Sudarikov, and E A Lukina

Subjects
gaucher disease, glucocerebrosidase gene mutation, osteoarticular lesions, genotype-phenotype correlations, Medicine
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 Β-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.

Published
2013

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