FETAL PRESENTATION OF MORQUIO-DISEASE TYPE-A
FETAL PRESENTATION OF MORQUIO-DISEASE TYPE-A
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DOI：
10.1002/pd.1970121207
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发表时间：
1992-12-01
影响因子：
3
通讯作者：
SEWELL, AC
中科院分区：
文献类型：
--
作者：
BECK, M;BRAUN, S;SEWELL, AC
胎儿粘多糖沉积症IV A型（Morquio A型）的描述。该家庭有一个受影响的孩子表现出典型的Morquio A病的症状，并在随后的怀孕后期要求产前诊断。在妊娠23周时，通过详细的超声扫描检测到中度腹水，并在羊水中发现硫酸角质素。通过前列腺素诱导终止妊娠，并通过证明培养的羊膜细胞和死后成纤维细胞培养物中N-乙酰胎盘糖胺-6-硫酸酯（GalNac-6-S）硫酸酯酶缺乏来证实IV A型粘多糖沉积症的诊断。β-半乳糖苷酶和芳基硫酸酯酶A的活性正常，排除了B型Morquio病和多发性硫酸酯酶缺乏症。这些结果表明，粘多糖沉积症IV A（一种主要影响骨骼系统的疾病）可能会在胎儿中产生腹水，其程度可以通过超声检测到。
A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylplactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of beta-galactosidase and arylsulphatase A were normal, ruling out Morquio disease type B and multiple sulphatase deficiency. These results indicate that mucopolysaccharidosis IV A (a disease that predominantly affects the skeletal system) may produce ascites in the fetus to such an extent that it can be detected by ultrasound.