Aldámiz-Echevarría Luis, Couce Maria L, Llarena Marta, Andrade Fernando
Division of Metabolism, Cruces University Hospital , Barakaldo, Bizkaia , Spain and.
Gynecol Endocrinol. 2014 Oct;30(10):691-3. doi: 10.3109/09513590.2014.928688. Epub 2014 Jun 13.
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-BH(4)) 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.
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.
The dose of 6R-BH(4) 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.
The pregnancy had a normal outcome, and so we consider that adaptation of the dose of 6R-BH(4) to the prenatal periods aided a greater efficiency and a lower risk in the treatment of maternal PKU.
一名苯丙酮尿症（PKU）女性通过新生儿筛查确诊，其苯丙氨酸羟化酶（PAH）突变类型为p.V388M/p.I65T，她接受了限制苯丙氨酸的治疗，并从30岁起开始口服盐酸沙丙蝶呤（6R - BH(4)）。本文旨在描述她孕期使用BH4的治疗情况并评估其使用方案。
该患者34岁时意外怀孕，为此她接受了富含必需脂肪酸、维生素和微量元素的无苯丙氨酸补充剂。
6R - BH(4)的剂量从500毫克/天减至100毫克/天，直至妊娠第28周停药，且耐受性良好。此次妊娠期间血液苯丙氨酸控制情况良好，未出现营养缺乏。
此次妊娠结局正常，因此我们认为根据孕期调整6R - BH(4)剂量有助于提高母体苯丙酮尿症治疗的效率并降低风险。
