RESUMO
The analysis of efficiency of treatment of 17 patients with Gaucher disease (GD) in Ukraine who had received fermento-substitution therapy for 2 years and more was conducted on the basis of clinical and laboratory monitoring data. Regular infusions of recombinant glucocerebroside reduced signs of hepatosplenomegaly and pancytopenia, reduced a bone pain and a bone crisis at the majority of patients with GD I type that led to considerable improvement of health state and improvement of patients life quality. Efficiency of treatment depended on regularity of drug administration, dosage and severity level of the disease at the start of the therapy. Adult patients were not seen to have corrections of bones and neurologic disorders after the treatment that confirmed necessity of an early initiation of the treatment, before formation of irreversible changes in these organs and systems. Chitiotriodase activity in blood plasma is the most complex laboratory indicator which displays activity of pathological process in patients with GD, therefore it is necessary to use it for an estimation of treatment efficiency to correct a recombinant glucocerebroside dosage.
Assuntos
Biomarcadores/sangue , Terapia de Reposição de Enzimas/métodos , Doença de Gaucher , Glucosilceramidase , Glucosilceramidas/sangue , Pancitopenia/sangue , Adolescente , Adulto , Osso e Ossos , Criança , Esquema de Medicação , Feminino , Doença de Gaucher/sangue , Doença de Gaucher/tratamento farmacológico , Doença de Gaucher/fisiopatologia , Glucosilceramidase/administração & dosagem , Glucosilceramidase/deficiência , Glucosilceramidase/uso terapêutico , Hemoglobinas/análise , Hepatomegalia/sangue , Hepatomegalia/fisiopatologia , Humanos , Infusões Intravenosas , Injeções Intravenosas , Masculino , Dor , Qualidade de Vida , Índice de Gravidade de Doença , Esplenectomia , Esplenomegalia/sangue , Esplenomegalia/fisiopatologia , Resultado do Tratamento , UcrâniaRESUMO
The molecular diagnostics of 27 from 26 Ukrainian families has been performed. The common mutations in GBA gene (N370S, L444P and 84GG) accounted for up to 58% of all cases: mutation N370S was detected in 42.3% alleles, mutation L444P was observed in 15.4% alleles and mutation 84GG was not found at all. The other mutations were: P178S, W184R and Rec Nci I (in compounds with N370S) in the patients with nonneuronopathic form of Gaucher disease, and the genotypes G377S/c 999G --> A and D409H/R120W/G202R were detected in patients with chronic neuronopathic form of Gaucher disease. The data analysis of the genotype and disease progression in the patients allows confirming the known genotype-phenotype correlation.
Assuntos
Doença de Gaucher/enzimologia , Doença de Gaucher/genética , Frequência do Gene , Glucosilceramidase/genética , Mutação , Alelos , Doença Crônica , Testes Genéticos , Genótipo , Humanos , UcrâniaRESUMO
Estimation of chitotriosidase activity is proposed for final diagnostics of Gaucher disease. Using this method the diagnosis has not been confirmed in one patient of 25 ones with this preliminary diagnosis. The problems of complex diagnostics of Gaucher disease are discussed.
