Michelakakis H, Dimitriou E, Tsagaraki S, Giouroukos S, Schulpis K, Bartsocas C S
Dept. of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
Genet Couns. 1995;6(1):43-7.
Over the last 13 years 2745 patients from all over Greece suspected to have a lysosomal storage disorder were referred to the Institute of Child Health. 1581 of those were suspected of having a mucopolysaccharidosis (MPS). 94 cases (3.42% of the total referrals) were positive: 36 patients with MPS, 6 with mucolipidosis (1 type I, 1 type II and 4 type III) and 3 with mannosidosis. Sanfilippo B was not only the most frequent type III MPS but also the most frequent MPS identified in our study. Sphingolipidoses and other lysosomal disorders were diagnosed in 47 cases and non-lysosomal disorders in 19 cases. In our experience Gaucher disease, Sanfilippo B and Hunter syndrome are the most frequent lysosomal disorders in Greece accounting for 23.4%, 17.0% and 7.6% respectively of all diagnosed cases. 13% of the patients originated from Thessaly including 5/16 Sanfilippo B, 2/3 Morquio B, 2/3 Maroteaux-Lamy, 2/6 Metachromatic leukodystrophy and 2/12 Gaucher type 1.
在过去13年里，来自希腊各地怀疑患有溶酶体贮积症的2745名患者被转诊至儿童健康研究所。其中1581人怀疑患有黏多糖贮积症（MPS）。94例（占总转诊人数的3.42%）确诊：36例患有MPS，6例患有黏脂贮积症（1例I型、1例II型和4例III型），3例患有甘露糖苷贮积症。桑菲利波B型不仅是最常见的III型MPS，也是我们研究中确诊的最常见的MPS。47例被诊断为鞘脂贮积症和其他溶酶体疾病，19例被诊断为非溶酶体疾病。根据我们的经验，戈谢病、桑菲利波B型和亨特综合征是希腊最常见的溶酶体疾病，分别占所有确诊病例的23.4%、17.0%和7.6%。13%的患者来自色萨利，其中包括16例桑菲利波B型中的5例、3例莫尔基奥B型中的2例、3例马罗托-拉米型中的2例、6例异染性脑白质营养不良中的2例和12例戈谢1型中的2例。
