Mairovitz Valérie, Labrune Philippe, Fernandez Hervé, Audibert Francois, Frydman René
Service de Gynécologie-Obstétrique, Hôpital Antoine-Béclère, 157, rue de la Porte de Trivaux, 92141 Clamart Cedex, France.
Eur J Pediatr. 2002 Oct;161 Suppl 1:S97-101. doi: 10.1007/s00431-002-1013-x. Epub 2002 Sep 4.
During the last decades, better understanding of specific enzymatic deficiencies has led to improved dietary management of children suffering from glycogen storage disease (GSD). Normal growth and development of infants can be achieved by a diet of regular meals supplemented by glucose and cornstarch during the night, and by monitoring glucose blood levels. This has resulted in an increase in the number of patients reaching adulthood and reproduction age. Therefore, developing a strategy for an optimal management of contraception and pregnancy is crucial for young women affected by GSD. Contraception has to be adapted to the specific metabolic requirements of women with GSD. Hormonal contraception is classically based on the combination of various synthetic progestogens and ethinyloestradiol. Ethinyloestradiol should be avoided because of a link with hepatic adenomas and is contraindicated in patients with hypertriglyceridaemia and hypercholesterolaemia. Blockade of ovulation can be achieved using high doses of progestogen alone, administered from the 5th to the 25th day of the cycle. Another scheme of hormonal contraception is based on daily administration of low doses of progestogen, which usually acts on local parameters of fertility, and can also achieve blockade of ovulation for the most recent compound proposed. Mechanical contraception using intra-uterine device is controversial for nulliparous patients. Benefits and side-effects of these different proposals are discussed. During pregnancy, the maternal nutritional state is important and a healthy maternal response to feeding and fasting is modified to ensure a constant supply of glucose for the developing fetus. Women with GSD are at risk of frequent hypoglycaemia. Only a few cases of successful pregnancies have been reported for patients with GSD. The outcomes using different approaches of dietary and obstetric management are discussed.
in the future, multidisciplinary management is necessary to improve obstetric outcome of pregnancy in females affected with glycogen storage disease.
在过去几十年中，对特定酶缺陷的深入了解使得糖原贮积病（GSD）患儿的饮食管理得到改善。通过规律进餐饮食，并在夜间补充葡萄糖和玉米淀粉，以及监测血糖水平，婴儿能够实现正常生长发育。这使得达到成年期和生育年龄的患者数量有所增加。因此，为受GSD影响的年轻女性制定最佳避孕和妊娠管理策略至关重要。避孕措施必须适应GSD女性的特定代谢需求。激素避孕传统上基于各种合成孕激素与乙炔雌二醇的组合。由于与肝腺瘤有关联，应避免使用乙炔雌二醇，并且高甘油三酯血症和高胆固醇血症患者禁用。可在周期的第5天至第25天单独使用高剂量孕激素来实现排卵阻断。另一种激素避孕方案基于每日服用低剂量孕激素，其通常作用于生育的局部参数，对于最新提出的化合物也可实现排卵阻断。对于未生育患者，使用宫内节育器的机械避孕存在争议。讨论了这些不同方案的益处和副作用。在怀孕期间，母亲的营养状况很重要，并且母亲对进食和禁食的健康反应会发生改变，以确保为发育中的胎儿持续供应葡萄糖。患有GSD的女性有频繁低血糖的风险。仅报道了少数GSD患者成功妊娠的病例。讨论了使用不同饮食和产科管理方法的结果。
未来，多学科管理对于改善糖原贮积病女性患者的产科妊娠结局是必要的。
