Reismann Péter, Tulassay Zsolt
Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Belgyógyászati Klinika, Budapest MTA-SE Molekuláris Medicina Kutatócsoport, Budapest.
Orv Hetil. 2008 Jun 22;149(25):1171-9. doi: 10.1556/OH.2008.28382.
Lysosomal storage disorders are caused either by deficiencies or decreased activity of enzymes localised in lysosomal vesicles or transport failure of these enzymes or their substrates. Accumulation of macromolecules destroy cell function presenting in clinical symptoms. Up to date, there are about 40 different lysosomal storage disorders according to the accumulated macromolecules. Till the last decades supportive therapy was the only option by these disorders. Enhanced researches in the last decades have presented some breakthrough results in the field of storage disease therapy. The review briefly introduces the lysosomal storage disorders, summarizes the actual therapy possibilities, as enzyme replacement therapy, substrate deprivation therapy, bone marrow transplantation. Finally, the review outlines future therapeutic potentials, like stem-cell and gene therapy.
溶酶体贮积症是由位于溶酶体小泡中的酶缺乏或活性降低、这些酶或其底物的转运失败所引起的。大分子的积累会破坏细胞功能,从而出现临床症状。根据积累的大分子不同,目前大约有40种不同的溶酶体贮积症。直到过去几十年,支持性治疗一直是这些疾病的唯一选择。过去几十年的深入研究在贮积病治疗领域取得了一些突破性成果。这篇综述简要介绍了溶酶体贮积症,总结了目前的治疗方法,如酶替代疗法、底物剥夺疗法、骨髓移植。最后,该综述概述了未来的治疗潜力,如干细胞和基因治疗。