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微粒体水解酶(3β-羟基类固醇硫酸酶)的缺乏在人类是一种先天性代谢病。此病最初的临床描述集中在出生前和围产期的表现,因胎盘的类固醇硫酸酶减低,使怀孕的母亲尿及血清雌三醇浓度极低,许多孕妇的正常分娩功能障碍,常常需要进行剖腹产。至目前报道,所有受影响的孕妇仅男婴受累,而生后临床看来正常。作者从受累的男婴用培养的成纤维细胞测定类固醇硫酸酶活力,以便证明此酶缺乏不仅影响胎盘,而且影响躯体组织。
The lack of microsomal hydrolase (3β-hydroxysteroid sulfatase) is a congenital metabolic disease in humans. The initial clinical description of the disease focused on prenatal and perinatal manifestations. The decrease in placental steroid sulphate levels resulted in very low urinary and serum estriol concentrations in pregnant mothers, and many of the normal delivery dysfunctions in pregnant women often required Caesarean section. To date, all affected pregnant women suffer from only male infants, and clinically normal after birth. The authors tested steroid sulphate activity in cultured infant fibroblasts from infants to demonstrate that this enzyme deficiency not only affects the placenta but also affects somatic tissue.