母体の先天異常による胎児・新生児異常 : 代謝・内分泌異常の妊婦を中心にして

抄録

Results of a survey and our study on fetal and neonatal abnormalities associated with maternal metabolic disorders and endocrine diseases are reported. DQs in two histidinemic cases of maternal histidinemia were within the normal range. It has been reported that 3 cases of maternal histidinemia with normal histidine metabolism and 10 histidinemic patients of maternal histidinemia including the above 2 cases showed normal DQs. DQs of 4 phenylketonuria (PKU) patients of maternal PKU and 5 cases of maternal PKU with normal phenylalanine metabolism have been reported in Japan. Two of the maternal PKUs had normal phenylalanine metabolism and DQs. One patient died from multiple congenital anomalies accompanied by hypoplastic left heart syndrome while the mother was on a low phenylalanine diet beginning at 6 weeks of gestation. It has been shown that the most common maternal endocrine diseases were maternal thyroid disorders. Nine to 14 per cent of maternal thyroid disorders showed neonatal abnormalities. Uncontrolled Cushing syndrome, pheochromocytoma, pituitary gigantism and acromegaly in the mother were responsible for occasional spontaneous abortions, premature labor, fetal death and neonatal anomalies. The high frequency of neonatal abnormalities were associated with uncontrolled hypoparathyroidism in the mother. Therefore, early treatment of metabolic disorders and endocrine diseases in pregnant women is important for the prevention of severe fetal and neonatal abnormalities.