Department of Clinical Biochemistry, King's College Hospital NHS Foundation Trust, London, UK.
J Inherit Metab Dis. 2010 Oct;33(5):591-6. doi: 10.1007/s10545-010-9142-2. Epub 2010 Jun 22.
A survey was posted to 27 women with acute porphyria about complications and outcome of pregnancy. Fifteen women returned the completed questionnaire and the pregnancies were characterised depending on the timing of diagnosis of porphyria. Four women were diagnosed with porphyria before the first pregnancy, five during a pregnancy and six after pregnancy. Five women were diagnosed with porphyria from family studies and the remaining ten were diagnosed when they presented with acute symptoms. There were a total of 33 pregnancies and 23 live births. Four women reported symptoms associated with porphyria during pregnancy. Two women received treatment with haem arginate during pregnancy with one of them having haem arginate therapy weekly with no adverse effect either to her or the baby. One woman had acute pain and skin symptoms during pregnancy but was not diagnosed until after delivery, and another reported acute symptoms during pregnancy. There were no differences, compared to the general population, between birth weight and miscarriage rate, and there were few obstetric complications with only one patient having pre-eclampsia at 37 weeks gestation. These results show that pregnancy is typically uncomplicated in acute porphyria, and that problems are more likely if the porphyria has not been diagnosed previously. We found that administration of haem arginate during pregnancy is safe and its continuous use during pregnancy has no detrimental effect on the outcome of pregnancy.
一项针对 27 名急性卟啉症女性的调查研究了妊娠并发症和结局。15 名女性回复了完整的问卷，根据卟啉症诊断时间对妊娠进行了特征描述。4 名女性在首次妊娠前被诊断为卟啉症，5 名女性在妊娠期间被诊断为卟啉症，6 名女性在妊娠后被诊断为卟啉症。5 名女性通过家族研究被诊断为卟啉症，其余 10 名女性是在出现急性症状时被诊断为卟啉症。共有 33 次妊娠和 23 次活产。4 名女性在妊娠期间报告了与卟啉症相关的症状。2 名女性在妊娠期间接受了血红素治疗，其中 1 名女性每周接受血红素治疗，未对她或婴儿造成任何不良反应。1 名女性在妊娠期间出现急性疼痛和皮肤症状，但直到分娩后才被诊断出来，另 1 名女性在妊娠期间报告了急性症状。与一般人群相比，出生体重和流产率没有差异，只有 1 名患者在 37 周妊娠时出现子痫前期，这表明妊娠在急性卟啉症中通常是无并发症的，如果以前没有诊断出卟啉症，则更有可能出现问题。我们发现，妊娠期间使用血红素是安全的，连续使用对妊娠结局没有不利影响。
