杂合子莱登基因突变围产期高危妊娠临床病例

Q4 Medicine
M. N. Mochalova, A.G. Sidorkina, E. S. Akhmetova, Tatyana V. Khaven, L. A. Kuzmina, Olga A. Durova, Elena A. Tomina, A. V. Solpov, V. A. Mudrov
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引用次数: 0

摘要

本文介绍了一例与杂合子 FV(莱登)突变相关的遗传性血栓性疾病的临床病例。患者入住第三组医院,诊断为:"妊娠 27 周 6 天。产科病史繁重。子宫上有疤痕。遗传性血栓性疾病,伴有因子 V 的杂合突变。高血压 I 期,1 度,风险 1,已控制。1度消化系统肥胖症。地方性弥漫性甲状腺肿Ⅰ度,甲状腺功能亢进。慢性胃炎,缓解"。入院时,患者接受了索尔Enoxaparini natrii,剂量为 0.4 毫升,每天皮下注射 2 次,但根据血栓动力学结果,血栓形成准备仍然存在。住院的目的是选择抗凝疗法。从病历中可以发现,产妇第一次怀孕时,由于正常位置的胎盘进行性严重早剥,产中胎儿死亡,最终按时进行了手术分娩。与血液学专家一起为这名患者选择了最佳抗凝疗法:Sol.Enoxaparini natrii,早上皮下注射 0.8 毫升,然后再注射 Sol.晚上皮下注射 0.4 毫升,Tab.乙酰水杨酸 0.15。在这种疗法的背景下,血栓动力学研究中发现了积极的动态变化和正常的凝血功能。选择抗凝疗法后,产妇在产前门诊妇产科医生和临床医学中心血液科医生的监督下出院。产前住院计划为 37 周。由于产前羊水破裂,病人在 35 周 1 天时紧急剖腹产,因为病人的子宫疤痕症状加重。早产女婴出生时体重 2410 克,身高 44 厘米,Apgar 评分为 8 分和 8 分。产后期间,考虑到血栓栓塞并发症的高风险,医生给患者开了依诺肝素钠,每天皮下注射 1 次,每次 0.4 毫升,持续 6 周。本例妊娠和分娩临床病例显示了现代医学中个性化治疗的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical case of high perinatal risk pregnancy with heterozygous Leiden mutation
This article presents the clinical case of hereditary thrombophilia associated with the heterozygous FV (Leiden) mutation. The patient was admitted to the hospital of the 3rd group with diagnosis: «Pregnancy 27 weeks 6 days. Burdened obstetric history. Scar on the uterus. Hereditary thrombophilia associated with a heterozygous mutation of factor V. The state of thrombotic readiness. Hypertension I stage, 1 degree, risk 1, controlled. Alimentary-constitutional obesity of the 1st degree. Endemic diffuse goiter of the 1st degree, euthyroidism. Chronic gastritis, remission.» On admission, the patient received Sol. Enoxaparini natrii at dosage of 0.4 ml subcutaneously 2 times every day, but according to the results of thrombodynamics, thrombotic readiness remained. The purpose of hospitalization was to select anticoagulant therapy. From the anamnesis, it was found that the woman's first pregnancy ended in operative delivery on time due to progressive severe premature detachment of a normally located placenta, intrapartum fetal death. Together with hematologists, the optimal anticoagulant therapy for this patient was selected: Sol. Enoxaparini natrii at dosage of 0.8 ml subcutaneously in the morning, then Sol. Enoxaparini natrii 0.4 ml subcutaneously in the evening, Tab. Acidi acetylsalicylici 0.15. Against the background of this therapy, positive dynamics was noted, normocoagulation was noted during the study of thrombodynamics. After the selection of anticoagulant therapy, the woman was discharged from the hospital under the supervision of an obstetrician-gynecologist of the antenatal clinic and the hematologist of the Clinical Medical Center. Antenatal hospitalization was planned for the period of 37 weeks. The patient was delivered by urgent caesarean section due to prenatal rupture of amniotic fluid at 35 weeks 1 day, given the aggravated anamnesis in patient with the uterine scar. A live premature girl was born weighing 2410 g, 44 cm tall and with an Apgar score of 8 and 8 points. In the postpartum period, given the high risk of thromboembolic complications, the patient was prescribed Enoxaparinum natrium at dosage of 0.4 ml subcutaneously 1 time per day for 6 weeks after delivery. The presented clinical case of pregnancy and childbirth demonstrates the importance of personalization in modern medicine.
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来源期刊
Journal of obstetrics and women's diseases
Journal of obstetrics and women's diseases Medicine-Obstetrics and Gynecology
CiteScore
0.40
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