目的:酪氨酸血症1型,一种遗传性酪氨酸代谢紊乱,通常用酪氨酸定义的饮食治疗,自2000年以来用nitisinone治疗。到目前为止,关于nitisone在怀孕和母乳喂养期间的影响的数据很少。这是第一次报告1型酪氨酸血症患者在接受nitisinone治疗时两次怀孕。
方法:我们在这里介绍一名20岁女性患者,患有1型酪氨酸血症,因为她在18个月大的时候被诊断为1型酪氨酸血症,因此接受了尼的松酮和酪氨酸定义的饮食治疗。在两次怀孕期间,血液中的酪氨酸浓度,定期测定琥珀酰丙酮和尼替辛酮。两个婴儿都没有1型酪氨酸血症,并且都显示出酪氨酸浓度的初始增加,琥珀酰丙酮和奈替辛酮。所有三种代谢物在出生后两周内下降。两者都是纯母乳喂养约两周。两个孩子都表现出适合年龄的身体和心理发育。
结论:怀孕期间和短母乳喂养期间的Nitisinone治疗未导致患者或其子女的不良事件。定期评估酪氨酸,在母亲和婴儿的怀孕期间和母乳喂养期间,应制作琥珀酰丙酮和nitisinone。为了更好地理解,原则上,所有妊娠和母乳喂养的酪氨酸血症1型病例均应进行评估和随访,以进一步评估酪氨酸血症1型的意义及其在妊娠期间的治疗.此外,即使母乳喂养的经验有限,尼替辛酮是安全的,没有理由认为母乳喂养不安全或不推荐。
OBJECTIVE: Tyrosinaemia type 1, an inherited disorder of tyrosine metabolism, is usually treated with a tyrosine-defined diet and since 2000 with
nitisinone. So far, data about effects of nitisone during pregnancy and breastfeeding are rare. This is the first report of two pregnancies in a patient with tyrosinaemia type 1 while under treatment with nitisinone.
METHODS: We here present a 20-year-old female patient with tyrisonemia type 1 receiving treatment with nitisinone and a tyrosine-defined diet since she was diagnosed with tyrosinaemia type 1 at the age of 18 months. During two pregnancies blood concentrations of tyrosine, succinylacetone and
nitisinone were measured regularly. Neither infant has tyrosinaemia type 1 and both showed an initial increase in concentrations of tyrosine, succinylacetone and nitisinone. All three metabolites dropped within two weeks after birth. Both were exclusively breastfed for about two weeks. Both children show age-appropriate physical and mental development.
CONCLUSIONS: Nitisinone therapy during pregnancy and the short breastfeeding period did not result in adverse events in our patient or her children. Regular assessments of tyrosine, succinylacetone and
nitisinone should be made during pregnancy and the breastfeeding period in both the mother and the infant. For better understanding, in principle, all cases of pregnancy and breastfeeding with tyrosinemia type 1 should be assessed and followed to further evaluate the implications of tyrosinaemia type 1 and its treatment during pregnancy. Additionally, even though experience with breastfeeding is limited, medication with
nitisinone is safe and there is no reason to consider breastfeeding unsafe or to not recommend it.