Krasnopolskaya X D, Mirenburg T V, Akhunov V S, Voskoboeva E Y
Research Center of Medical Genetics RAMS, Moscow, Russia.
Wien Klin Wochenschr. 1997 Feb 14;109(3):74-80.
Diagnosis and prevention of lysosomal storage diseases (LSD) in the former Soviet Union (FSU) is based on the interaction of various local counselling units with the Department of Inherited Metabolic Diseases (DIMD) at the Research Center of Medical Genetics (RAMS). Work began in 1982 using standard, as well as newly developed biochemical techniques. 25 different LSD were diagnosed in 445 patients from 404 families. 106 pregnancies in families at risk were monitored prenatally, and 25 affected fetuses were diagnosed and aborted. The clinical spectrum of diagnosed lysosomal storage diseases (LSD) was surprisingly heterogeneous. Besides classical forms of LSD numerous atypical forms were discovered. They included juvenile and adult forms of some sphingolipidoses manifesting as progressive dystonia, spinocerebellar degeneration and hebephrenic schizophrenia, as well as an atypical form of mucolipidosis III in which the clinical phenotype bore an obvious resemblance to that of mucopolysaccharidosis (MPS) VI. The incidence of MPS was much higher than that of other LSD. It was evaluated as 1:15000 for two regions of the FSU. This investigation revealed some peculiarities of the ethnic distribution of MPS in populations of the FSU and supported the high prevalence of the gene for Tay-Sachs disease gene in Ashkenazi Jews.
前苏联（FSU）溶酶体贮积症（LSD）的诊断与预防工作基于各地咨询单位与医学遗传研究中心（RAMS）的遗传性代谢疾病部（DIMD）之间的合作。这项工作始于1982年，采用了标准的以及新开发的生化技术。在来自404个家庭的445名患者中诊断出了25种不同的溶酶体贮积症。对有风险家庭中的106次妊娠进行了产前监测，诊断出25例患病胎儿并实施了流产。已诊断出的溶酶体贮积症（LSD）的临床谱惊人地异质。除了经典形式的LSD外，还发现了许多非典型形式。它们包括一些鞘脂贮积症的青少年和成人形式，表现为进行性肌张力障碍、脊髓小脑变性和青春期痴呆型精神分裂症，以及一种非典型的粘脂贮积症III型，其临床表型与粘多糖贮积症（MPS）VI型明显相似。MPS的发病率远高于其他LSD。在前苏联的两个地区，其发病率估计为1:15000。这项调查揭示了前苏联人群中MPS种族分布的一些特点，并支持了阿什肯纳兹犹太人中泰-萨克斯病基因的高流行率。
