The frequency of lysosomal storage diseases in The Netherlands
The frequency of lysosomal storage diseases in The Netherlands
复制标题
DOI：
10.1007/s004390051078
复制
发表时间：
1999-07-01
期刊：
影响因子：
5.3
通讯作者：
van Diggelen, OP
中科院分区：
文献类型：
--
作者：
Poorthuis, BJHM;Wevers, RA;van Diggelen, OP
我们根据1970-1996年期间诊断的所有963例酶法确诊病例，计算了荷兰溶酶体贮积病（LSD）的相对频率和出生患病率。所有低收入群体的合并出生流行率为每100 000名活产14人。糖原病II型是最常见的LSD，出生患病率为每100，000例活产2.0例，占所有诊断病例的17%。异染性脑白质营养不良（MLD）是最常见的LSD。24%的脂肪摄入量被诊断出MLD，计算出的所有类型的出生患病率为每100，000人中1.42人。Krabbe病的诊断率为17%，也属于荷兰更常见的脂质沉积病，出生患病率为1.35/100，000。戈谢病通常被认为是最常见的脂质沉积病，其出生患病率为1.16/100，000。所有脂质沉积病的合并出生患病率为每100 000名活产6.2人。在粘多糖沉积症（MPS）组中，MPS I的计算出生患病率最高，为1.19/100，000（占所有确诊MPS病例的25%），略高于MPS IIIA，估计出生患病率为1.16/100，000。作为一个群体，MPS III占所有确诊MPS病例的47%，合并出生患病率为每10万活产1.89例。MPS II的出生流行率为每100 000人0.67（每100 000名男性活产1.30）。所有其他MPS都是罕见的。所有MPS的合并出生流行率为每100 000例活产4.5例。粘脂症和寡糖症非常罕见，个别疾病的出生患病率为0.04 - 0.20。1970年至1996年间仅诊断出49例病例。她们的合并出生率为每100 000名活产1.0人。
We have calculated the relative frequency and the birth prevalence of lysosomal storage diseases (LSDs) in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970-1996. The combined birth prevalence for all LSDs is 14 per 100,000 live births. Glycogenosis type II is the most frequent LSD with a birth prevalence of 2.0 per 100,000 live births, representing 17% of all diagnosed cases. Within the group of lipidoses, metachromatic leukodystrophy (MLD) is the most frequent LSD. MLD was diagnosed in 24% of lipidoses and the calculated birth prevalence was 1.42 per 100,000 for all types combined. Krabbe disease, diagnosed in 17% of cases, also belongs to the more frequent lipid storage diseases in The Netherlands with a birth prevalence of 1.35 per 100,000. The birth prevalence of Gaucher disease, commonly regarded as the most frequent lipid storage disease is 1.16 per 100,000 for all types combined. The combined birth prevalence for all lipid storage diseases is 6.2 per 100,000 live births. Within the group of mucopolysaccharidoses (MPSs), MPS I has the highest calculated birth prevalence of 1.19 per 100,000 (25% of all cases of MPS diagnosed), which is slightly more frequent than MPS IIIA with an estimated birth prevalence of 1.16 per 100,000. As a group, MPS III comprises 47% of all MPS cases diagnosed and the combined birth prevalence is 1.89 per 100,000 live births. The birth prevalence of MPS II is 0.67 per 100,000 (1.30 per 100,000 male live births). All other MPSs are rare. The combined birth prevalence for all MPSs is 4.5 per 100,000 live births. Mucolipidoses and oligosaccharidoses are very rare with birth prevalences between 0.04 and 0.20 for individual diseases. Only 49 cases were diagnosed between 1970 and 1996. Their combined birth prevalence is 1.0 per 100,000 live births.