患有先兆子痫和高风险 APOL1 基因型的非洲裔哥伦比亚妇女:病例报告。

IF 1.3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Medicine Pub Date : 2024-11-01 DOI:10.1097/MD.0000000000040284
Carlos E Duran, Juan David Gutierrez-Medina, Jacobo Triviño Arias, Lina M Sandoval-Calle, Mario Barbosa, Elena Useche, Lorena Diaz-Ordoñez, Harry Pachajoa
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引用次数: 0

摘要

理由子痫前期是全球孕产妇发病和死亡的主要原因之一。尽管子痫前期是最常见的妊娠并发症,但与其他种族相比,它主要影响黑人妇女。APOL1 G1 和 G2 风险等位基因是高血压的遗传风险因素,最近又被认为与子痫前期的发病风险有关:一名来自哥伦比亚太平洋沿岸的 17 岁非洲裔哥伦比亚初产妇,患有先兆子痫、一级肥胖症、抽搐发作和精神运动性躁动:患者血压读数升高,同时伴有 4 次强直阵挛发作、心动过速、一级水肿、不规则子宫活动和反复抽搐发作。头部计算机断层扫描显示,患者患有后可逆性脑病综合征和细胞毒性水肿。基因检测显示,患者的基因型为高风险的 APOL1(G1/G2),并确认其母系非洲血统(单倍群 L3b):初步治疗包括输注拉贝洛尔和硝普钠,同时使用硫酸镁进行神经保护治疗。由于确诊为子痫,医生通过剖腹产手术终止了妊娠。在使用硝普钠、拉贝洛尔、卡维地洛和地尔硫卓的额外降压治疗方案后,最终控制住了高血压危机:出院时通过皮下埋植避孕药进行了计划生育,并进行了降压治疗:这是拉丁美洲首次报道一名未成年妊娠高血压危象患者,其基因型为 G1/G2 高危基因型,母系遗传祖先为 L3b 单倍群。该病例反映了在子痫前期考虑遗传易感性的重要性。在对子痫前期进行分层管理时,如果考虑到遗传因素,就有可能大大降低与这种疾病相关的孕产妇发病率和死亡率。
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African-Colombian woman with preeclampsia and high-risk APOL1 genotype: A case report.

Rationale: Preeclampsia is one of the main causes of maternal morbidity and mortality worldwide. Even though preeclampsia is the most prevalent medical complication of pregnancy, it predominantly affects Black women when compared with other ethnicities. APOL1 G1 and G2 risk alleles are genetic risk factors for hypertension and more recently have been associated to the risk of developing preeclampsia.

Patient concerns: A 17-year-old African Colombian primigravid patient from the Colombian Pacific Coast with preeclampsia, grade 1 obesity, convulsive episodes and psychomotor agitation.

Diagnoses: The patient exhibited elevated blood pressure readings concomitant with 4 tonic-clonic episodes, tachycardia, Grade I edema, irregular uterine activity and recurrent convulsive episodes. A head computed tomography revealed posterior reversible encephalopathy syndrome along with cytotoxic edema. Genetic testing unveiled a high risk APOL1 genotype (G1/G2) and a confirmed matrilineal African genetic ancestry (haplogroup L3b).

Interventions: Initial management involved administration of labetalol and sodium nitroprusside infusions alongside neuroprotective management utilizing magnesium sulfate. Due to the diagnosis of eclampsia, pregnancy termination was performed via cesarean section. The additional antihypertensive therapeutic protocol with nitroprusside, labetalol, carvedilol, and diltiazem finally controlled the hypertensive crisis.

Outcomes: Discharge was provided with family planning via subdermal implant contraception and established antihypertensive management.

Lessons: This is the first Latin American report of an underage patient with a hypertensive crisis of pregnancy associated with a G1/G2 high risk genotype and a verified matrilineal genetic ancestry represented by a haplogroup L3b. This case reflects the importance of considering genetic predisposition in the context of preeclampsia. A stratified approach to preeclampsia management that acknowledges genetic factors harbors the potential to significantly diminish the maternal morbidity and mortality entwined with this condition.

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来源期刊
Medicine
Medicine 医学-医学:内科
CiteScore
2.80
自引率
0.00%
发文量
4342
审稿时长
>12 weeks
期刊介绍: Medicine is now a fully open access journal, providing authors with a distinctive new service offering continuous publication of original research across a broad spectrum of medical scientific disciplines and sub-specialties. As an open access title, Medicine will continue to provide authors with an established, trusted platform for the publication of their work. To ensure the ongoing quality of Medicine’s content, the peer-review process will only accept content that is scientifically, technically and ethically sound, and in compliance with standard reporting guidelines.
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