Beck M, Braun S, Coerdt W, Merz E, Young E, Sewell A C
Kinderklinik, Universität Mainz, Germany.
Prenat Diagn. 1992 Dec;12(12):1019-29. doi: 10.1002/pd.1970121207.
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-acetylgalactosamine-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.
本文描述了一例患有IV A型黏多糖贮积症（莫尔基奥A型）的胎儿。该家庭有一个患病孩子，表现出典型的莫尔基奥A型疾病症状，在随后的妊娠晚期，家属要求进行产前诊断。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。通过前列腺素引产终止妊娠，通过检测培养的羊膜细胞和尸检成纤维细胞培养物中N - 乙酰半乳糖胺 - 6 - 硫酸酯（GalNac - 6 - S）硫酸酯酶缺乏，证实为IV A型黏多糖贮积症。β - 半乳糖苷酶和芳基硫酸酯酶A的活性正常，排除了B型莫尔基奥病和多种硫酸酯酶缺乏症。这些结果表明，IV A型黏多糖贮积症（一种主要影响骨骼系统的疾病）可能在胎儿中产生腹水，以至于可以通过超声检测到。
