Nephrology Unit, Fundación Valle del Lili, Cali, Colombia.
Departamento de Ciencias Basicas Medicas, Facultad de Salud, Universidad Icesi, Cali, Colombia.
Medicine (Baltimore). 2024 Nov 1;103(44):e40284. doi: 10.1097/MD.0000000000040284.
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.
A 17-year-old African Colombian primigravid patient from the Colombian Pacific Coast with preeclampsia, grade 1 obesity, convulsive episodes and psychomotor agitation.
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).
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.
Discharge was provided with family planning via subdermal implant contraception and established antihypertensive management.
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.
子痫前期是全球孕产妇发病率和死亡率的主要原因之一。尽管子痫前期是妊娠中最常见的并发症,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危险因素,最近也与子痫前期的发病风险相关。
一位 17 岁的非洲哥伦比亚太平洋沿岸的初产妇,患有子痫前期,1 级肥胖,惊厥发作和精神运动激越。
患者血压升高,同时伴有 4 次强直阵挛发作、心动过速、I 级水肿、不规则子宫活动和反复惊厥发作。头部计算机断层扫描显示后部可逆性脑病综合征伴细胞毒性水肿。基因检测显示高危 APOL1 基因型(G1/G2)和明确的母系非洲遗传血统(单倍群 L3b)。
初始治疗包括使用拉贝洛尔和硝普钠输注,并进行神经保护管理,使用硫酸镁。由于诊断为子痫,通过剖宫产终止妊娠。最后,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控制了高血压危象。
通过皮下植入避孕药提供计划生育,并建立了降压治疗方案。
这是拉丁美洲首例报告的未成年患者,患有与 G1/G2 高危基因型相关的妊娠高血压危象,并通过单倍群 L3b 证实了母系遗传血统。该病例反映了在子痫前期的背景下考虑遗传易感性的重要性。考虑到遗传因素的分层子痫前期管理方法有可能显著降低与该疾病相关的孕产妇发病率和死亡率。