Study on Placental Sulfatase Deficiency ; Diagnosis, Treatment and Genetics

胎盘硫酸酯酶缺乏症（PSD）是一种罕见的由胎盘酶缺乏症引起的雌激素分泌低下的疾病，PSD是通过体外胎盘酶测定来诊断的。在日本，自1979年以来，我们已经确认了65例这种疾病。本文对65例鱼鳞病患者的分娩方式、家庭谱系、出生体重、胎盘重量、出生后1 ~ 3个月鱼鳞病的发病情况进行了分析。此外，还测定了正常女性和男性外周血白细胞中硫酸酯asse的活性，并将其与PSD母亲和婴儿的活性进行了比较。用^<14>C-DHA-Sulfate体外孵育证实胎盘缺乏硫酸酯酶，其活性以游离类固醇的量表示。在所有获得的胎盘中都注意到特征性的缺乏或极低水平的硫酸酯酶活性。在分娩方式方面，47%的孕妇通过剖宫产终止妊娠。自然分娩仅占27%。60名婴儿出现鱼鳞病，所有患病胎儿均为男性。雌性白细胞中类固醇硫酸酯酶活性明显强于正常雄性。从PSD婴儿和隐性x连锁鱼鳞病患者获得的白细胞中硫酸酯酶的敏感性较低。在患有PSD的母亲的情况下，其活性低于正常男性的一半，并且与正常女性的水平没有重叠，这表明白细胞硫酸酯酶活性的测量将是诊断PS携带者和谱系分析的临床有用工具。从正常人胎盘微粒体中纯化了大约170倍的类固醇硫酸酯酶，并对酶的性质进行了研究。纯化后的硫酸酯酶在高效液相色谱凝胶电泳上分子量为500 -，OKDA，而在十二烷基硫酸钠聚丙烯酰胺凝胶电泳上分子量为73KDa。氨基酸分析表明纯化的人胎盘硫酸酯酶不含半胱氨酸残留。添加磷脂酰胆碱并没有提高PSD患者经溶解和聚焦后胎盘微粒体的酶活性。这表明PSD是酶缺陷的结果，而不是膜酶结构缺陷的结果。少

Placental sulfatase deficiency(PSD)is a rare disorder with low estrogen production due to placental enzymatic deficiency- PSD is diagnosed by in vitro placental enzyme assay. In Japan, we have confirmed 65 cases of this disorder since 1979. In the present investigation, we have analysed the clinical data of 65 cases including the mode of delivery, family pedigree, birth weight of the infants, placental weight, developent of ichthyosis during the period of 1-3 months after birth. In addition, sulfatasse activity in peripheral blood leukocytes isolated from normal women and men, and the activity was compared to that from the PSD mothers and the infants. Deficiency of the sulfatase of the placenta obtained was confirmed by in vitro incubation with ^<14>C-DHA-Sulfate and the activity was expressed as the amounts of the free steroid. Characteristic absence and or an extremely low level of sulfatase activity was noticed in all the placenta obtained. In regard to the mode of delivery, pregnan … More cy was terminated by cesarean section in 47% of the cases. Spontaneous labor was observed only 27%. Sixty infants developed ichythyosis and all affected fetuses were males. The steroid sulfatase activity in female leukocytes was significantly stronger than that in normal males. Sulfatase in leukocytes obtained from the PSD babies and recessive X-linked ichthyosis patients had lower sensitivity. In the case of the mother affected with PSD, the activity was less than the half of that in normal men and the levels did not overlap with that in normal women suggesting that the measurement of leukocyte sulfatase activity would be a clinically useful tool for the diagnosis of PS @-arriers and pedigree analysis.Steroid sulfatase was purified approximately 170-fold from normal human placental microsome and properties of the enzyme were, Nnvestigated. The purified sulfatase showed a molecular weight of 500 -, OKDA on HPLC gel filtration, whereas the enzyme migrated as a molecular mass of 73KDa on sodium dodecyl sulfate polyacrylamide gel electro phoresis. Amino acid analysis revealed that the purified human placental sulfatase did not contain cystein residue. Addition of phosphatidylcholine did not enhance the enzyme activity in the placental microsomes obtained from the patients with PSD after solvilization and chromatofocusing. This result indicates that PSD is the result of defect of the enzyme rather than the defect in membrane-enzyme structure. Less