Prenatal Diagnosis of Lysosomal Storage Diseases
Prenatal Diagnosis of Lysosomal Storage Diseases
复制标题
溶酶体贮积病的产前诊断
DOI：
10.1111/j.1750-3639.1998.tb00141.x
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发表时间：
1998
期刊：
影响因子：
6.4
通讯作者：
B. Winchester
中科院分区：
文献类型：
--
作者：
B. Lake;E. Young;B. Winchester
一旦在指示病例中确诊，可通过多种技术实现溶酶体贮积症的产前诊断，包括羊水分析、培养羊水细胞中的酶活性测定、培养绒毛细胞中的酶活性测定和绒毛样品中的酶活性直接测定。这些研究可以伴随着超微结构的观察，这给出了一个独立的诊断方法。在某些情况下，用于突变检测或连锁分析的分子遗传学研究适用于产前诊断。某些溶酶体酶的假性缺陷不会引起临床问题，但会使初步诊断复杂化，特别是在异染性白质营养不良中，假性缺陷比疾病本身更常见。突变分析以及酶测定是必要的，不仅在索引的情况下，而且在父母之前，同样的技术应用于产前诊断的样品。大量溶酶体贮积症可表现为胎儿水肿，在此晚期可通过胎儿血样采集和显微镜检查以及羊水中适当酶或代谢物的生化测定来确定诊断。所有的产前诊断，其中一个受影响的胎儿是指应尽快确认诊断，以安抚焦虑的父母，并作为审计实验室的能力，进行产前诊断。建议采用包括生物化学、分子遗传学和形态学研究的产前诊断综合方法。
The prenatal diagnosis of lysosomal storage disorders can be achieved, once the diagnosis is confirmed in the index case, by a variety of techniques including analysis of amniotic fluid, asay of enzymic activity in cultured amniotic fluid cells, cultured chorionic villus cells and by direct assay of activity in chorionic villus samples. These studies can be accompanied by ultrastructural observations which give an independent means of diagnosis. In some instances molecular genetic studies for mutation detection or linkage analysis are appropriate for prenatal diagnosis. Pseudodeficiencies of some of the lysosomal enzymes, which cause no clinical problems, can complicate the initial diagnosis particularly in metachromatic leucodystrophy where the pseudodeficiency is more common than the disease itself. Mutation analysis as well as enzyme assay is necessary not only in the index case but also in the parents before the same techniques are applied to a sample for prenatal diagnosis. A large number of lysosomal storage disorders may present as fetal hydrops and the diagnosis can be established at this late stage by fetal blood sampling and examination by microscopy as well as by biochemical assay of the appropriate enzyme or metabolite in amniotic fluid. All prenatal diagnoses in which an affected fetus is indicated should have confirmation of the diagnosis as soon as possible to reassure anxious parents, and to act as audit of the laboratory's competence to undertake prenatal diagnosis. A combined approach to prenatal diagnosis involving bio‐chemical, molecular genetic and morphological studies is recommended.
溶酶体水解酶的“假性缺陷”。
影响因子：
9.8
作者：
Thomas,GH
通讯作者：
Thomas,GH
影响因子：
56.9
作者：
Sleat, DE;Donnelly, RJ;Lobel, P
通讯作者：
Lobel, P