Abstract
Purpose: A woman with phenylketonuria (PKU) was diagnosed through neonatal screening, her PAH mutation was p.V388M/p.I65T, for which she received treatment with phenylalanine restriction, and was administered oral sapropterin dihydrochloride (6R-BH4) from the age of thirty. The purpose of this article is to describe the treatment with BH4 during her pregnancy and to evaluate a plan for its use.
Methods: The patient had an unplanned pregnancy at 34 years of age, for which she received a phenylalanine-free supplement enriched with essential fatty acids, vitamins and trace elements.
Results: The dose of 6R-BH4 was reduced from 500 mg/day to 100 mg/day until its suspension in the 28th week of gestation, and was well tolerated. Blood phenylalanine control was easily accomplished during this pregnancy, and no nutritional deficiency was seen.
Conclusion: The pregnancy had a normal outcome, and so we consider that adaptation of the dose of 6R-BH4 to the prenatal periods aided a greater efficiency and a lower risk in the treatment of maternal PKU.
Chinese abstract
目的:一名女性在新生儿筛查时被诊断患有苯丙酮尿症(PKU),她的PAH突变为p.V388M/p.I65T,因此接受苯丙氨酸限制疗法,自30岁起开始口服沙丙蝶呤二盐酸盐(6R-BH4)。本文目的在于描述患者在妊娠过程中的BH4治疗方法,评估其使用方案。
方法:该患者在34岁时意外妊娠,故其添加了不含苯丙氨酸的物质,包含必需脂肪酸、维生素及微量元素。
结果:6R-BH4的剂量由500mg/天减至100mg/天,至妊娠28周中止,患者耐受性良好。妊娠期血中苯丙氨酸被顺利控制,且未出现营养素缺乏状况。
结论:该患者妊娠结局正常,所以我们认为在产前期调整6R-BH4的剂量有助于提高其有效性,且降低母体PKU的治疗风险。