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  • Zdravljenje lizosomskih bolezni - sedanjost in prihodnost = Treatment of lysosomal storage disease - present and future
    Žerjav-Tanšek, Mojca ...
    There are more than 40 different forms of inherited lysosomal storage diseases(LSD) known to occur in humans and the aggregate incidence has been estimated to approach 1 in 7.000 to 8.000 live ... births. Deficient activity of any one of numerous lysosomal enzymes results in a specific lysosomal storage disorder, due to the progressme storage ot tne substrate in affected organs and tissues. Sphingolipidoses, mucopolysaccharidoses and oligosaccharidoses are the main groups of lysosomal diseases and despite a great variability theyshare some clinical manifestations. Most LSDs are associated with high morbidity and mortality and represent a significant burden on patients, their families, and health care providers. Except for symptomatic therapies, many LSDs remain untreatable. Animal models of LSDs play a critical role in evaluating the efficacy and safety of therapy for many of these conditions. Therapies for some LSDs do exist, or are under evaluation, including allogenicbone marrow transplantation, enzyme replacement therapy (ERT), and enzyme enhancement therapy. These treatment options are associated with significant concerns, including high morbidity and mortality with limited positive outcomes in bone marrow or hematopoietic stem cell transplantation, incomplete response to therapy and life-long therapy in ERT and high costs of therapies. ERT in Gaucher and Fabry disease is successful if the therapy is introduced early and with sufficient dosage. ERT in LSD is reviewed regarding history, biochemical features, efficiency in clinical studies and side effects. The other therapies for some LSDs are reviewed shortly.
    Vir: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 13, [št.] 1, 2006, str. 6-19)
    Vrsta gradiva - članek, sestavni del
    Leto - 2006
    Jezik - slovenski
    COBISS.SI-ID - 21325785

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