Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride

Abstract

Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome. Sapropterin dihydrochloride (SD), an alternative or adjunct to dietary therapy in patients with tetrahydrobiopterin (BH₄)-responsive PKU, has recently been used in several cases to treat PKU during pregnancy with satisfactory results. Here, we report two pregnancies treated with SD and unrestricted diet in a patient with BH₄-responsive mild PKU. The first pregnancy resulted in a partial hydatidiform mole and was terminated, whereas a healthy infant was born from the second pregnancy. Phenylalanine control was optimal in both pregnancies. To the best of our knowledge, this is the first report on the development of partial hydatidiform mole associated with SD treatment and the second report on molar pregnancy in PKU. While the relation between SD and molar pregnancy is unknown, further studies may be needed to investigate the possible effects of SD on fertilization.

Chinese abstract

在患苯丙酮尿症 (PKU) 的孕妇中严格控制高苯丙氨酸血症是必需的, 以防止胎儿苯丙氨酸胚胎病, 该病以宫内生长受限, 面部畸形, 先天性心脏病、小头畸形、智力障碍为特征, 统称为母体PKU综合症。二盐酸沙丙蝶呤 (SD) , 用于四氢生物蝶呤 (BH₄) 反应性PKU患者的一种作为饮食疗法的替代或辅助治疗的方法, 已经用于多例妊娠期PKU患者的治疗且获得满意疗效。本文报告两例妊娠期SD和非严格饮食治疗的BH₄反应性轻度PKU患者。第一例因部分性葡萄胎而终止妊娠, 而第二例则是诞生了一个健康婴儿。两例妊娠苯丙氨酸控制均趋于最佳。据我们所知, 这是和SD治疗相关的部分性葡萄胎研究进展的第一次报告, 以及PKU患者葡萄胎的第二次报告。然而SD和葡萄胎之间的关系尚未知晓, 需要进一步的研究以探讨SD可能对受精的影响。

• Maternal phenylketonuria
• molar pregnancy
• partial hydatidiform mole
• sapropterin dihydrochloride
• tetrahydrobiopterin-responsive phenylketonuria

Declaration of interest

The authors report no conflicts of interest.

Ethics: This work has not necessitated approval from the university ethics review committee.