Morning sickness is common in pregnancy, with up to 80% of pregnant women experiencing this symptom at some point, however, if the nausea and sickness is excessive and accompanied by an inability to keep food down, you might not be experiencing morning sickness.

Hyperemesis pravidarum（HG）是这种罕见情况的医疗名称，南加州大学研究员Marlena Fejzo，博士亲身经历了它，因此悲惨地流产。Fejzo是一个团队的一部分，该团队在一个名为“称为”的基因变体之间建立了第一个联系GDF15and HG, and is working to bring attention to the disease and improve available diagnostics and treatment options.

捷克葡萄牙直播很高兴与fejzo为了了解有关HG目前面临的妇女的更多信息，HG可能会有遗传原因以及这项研究的未来结果。

凯特·罗宾逊（KR）：您能告诉我们您对HG的经历吗？为什么这样的研究如此重要？

Marlena Fejzo(MF):我患有汞，接受了7种不同的药物治疗，但没有任何效果，而且我无法呕吐或保持10周的措施。每一个醒来的时刻，我都必须完全静止不动。这是酷刑，最终我得到了肠胃外营养，但是为时已晚，我在妊娠15周时失去了婴儿。

Ever since then I have been researching HG to try to find answers, so people don’t have to go through what I did. It’s been over 20 years and mothers and their babies are still suffering and even dying in the United States and around the world from HG. In addition, I and others have now shown that the saying “the baby gets everything it needs from mom” is false in the case of HG. A最近的研究发现汞与胎龄小的风险（5倍）有关 - 这高于暴露于大麻，慢性高血压，妊娠前糖尿病，先兆子痫，自身免疫性疾病，可卡因，使用，苯丙胺使用和苯丙胺使用和使用和苯丙胺的使用，烟草在怀孕中使用。HG还与早产，神经发育延迟和自闭症谱系障碍的风险增加有关。值得注意的是，最近已显示HG与大脑的结构异常有关。不利的结果不仅限于后代；母亲的自杀念头，创伤后压力以及一系列长期的身体和社会问题的风险增加可能是由于严重的长期疾病。对这种疾病和进步的关注是必要的。

KR: How is HG currently diagnosed and are there any treatment options available for the condition?

MF：汞通常被诊断为严重的恶心和/或呕吐，从16周胎龄开始，伴随着无法正常进食和/或饮酒，并且无法进行日常活动。它通常导致营养不良，脱水和体重减轻。治疗包括补液和处方抗神经药。但是目前的药物工作不够好 - 大多数患者在尝试后两周内不会增加任何体重。重要的是，应服用无法耐受维生素并且无法正确食用的患者应服用硫胺素，以避免hg的罕见但严重的并发症，Wernicke的脑病（硫胺素缺乏症造成的脑损伤）。患者和提供者还需要资源和支持，其中许多可以在她的基金会网站上找到www.hyperemesis.org。

KR：您能否与我们联系，您如何发现这种变体和突变GDF15gene are linked to HG?

MF：In ourstudypublished in 2018, we partnered with a personal genetics company and performed a genome-wide association study comparing common genetic variants between 1,306 cases with HG and 15,756 controls. The greatest differences were found in variants around a gene that codes for a nausea and vomiting hormone calledGDF15。

Recently, we performed a second genetic technique called whole-exome sequencing on a separate population of study participants, comparing common and rare variants within genes between 926 HG cases and 660 unaffected controls. In thisstudy，唯一在受影响和未受影响的个体之间显着不同的基因是GDF15。此外，唯一在受HG影响的10人或更多人中罕见突变的基因是GDF15。GDF15 is produced at high levels by the placenta in pregnancy and patients hospitalized with HG have significantly higher levels than pregnant patients with normal or no nausea and vomiting. This provides very strong evidence thatGDF15参与HG的病因。尽管其他因素可能会造成任何贡献，但我认为现在有更强有力的证据GDF15引起HG比目前任何其他理论。

KR: What implications do your findings have for individuals with HG?

MF：患者经常被解雇或被告知他们夸大了症状，导致治疗和怀孕妊娠的不足。这项研究的直接好处是，它为临床医生和患者提供了基于证据的HG的原因，该原因验证了该疾病，并希望迫使提供者和家人更加认真地对待它。从长远来看，它为科学家和制药公司提供了一种新颖的途径，以追求预测，诊断和治疗。重要的是，针对GDF15途径的药物在改善动物模型的食欲和体重增加方面非常有效，并且已经在癌症患者的临床试验中。如果安全，这些新药物可能会使HG患者受益，从而导致更健康的母亲和婴儿。

KR: How will the strengths and limitations of this study guide future HG research?

MF：Future research should focus on the GDF15 pathway, rather than continuing to waste resources on outdated theories such as the pregnancy hormone human chorionic gonadotropin (hCG) or psychological factors. In addition, our recent study included subsets of patients of African, admixed American and East Asian ancestries, and has provided preliminary evidence that the results may be generalizable, but larger studies in these populations are needed to prove this. There is still much to be done to understand how the GDF15 pathway works in pregnancy and what other factors may be involved. Hopefully the knowledge gained can be used to develop tools for prediction, diagnosis and more effective treatments.

Marlena Fejzo博士正在与技术网络编辑助理凯特·罗宾逊（Kate Robinson）交谈。捷克葡萄牙直播