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作者在日本首次报道了应用羊水细胞HLA型的鉴定进行21-羟化酶缺陷(21-OHD)产前诊断及治疗研究的成功经验。第一女孩出生时即发现阴蒂肥大及外阴部色素沉着,生后25天因血中128Na~+ mEq/L,K6.7mEq/L,疑为先天性肾上腺皮质增生,并开始投给醋酸考地松隆及食盐治疗。在治疗前,因17-羟孕酮特别高,为260ng/ml,故诊断为21-OHD。1岁3个月时施行阴蒂手术,虽有阴道口狭窄但未做阴道成形术。其母再次妊娠后于妊娠18周实行了羊水穿刺试验。
The authors first reported the successful experience of prenatal diagnosis and treatment of 21-OHD using identification of HLA type of amniotic fluid cells in Japan. The first girl was found to be clitoral hypertrophy and genital pigmentation, 25 days after birth due to blood 128Na ~ + mEq / L, K6.7mEq / L, suspected congenital adrenal hyperplasia, and began to cast acetate test Songlong and salt treatment. Before treatment, due to the particularly high 17-hydroxyprogesterone, 260ng / ml, it is diagnosed as 21-OHD. 1 year and 3 months when performing clitoris surgery, although vaginal stenosis but did not do vaginoplasty. Amniotic fluid puncture test was performed at 18 weeks of gestation after her mother was pregnant again.