Carlos E Duran, Juan David Gutierrez-Medina, Jacobo Triviño Arias, Lina M Sandoval-Calle, Mario Barbosa, Elena Useche, Lorena Diaz-Ordoñez, Harry Pachajoa
{"title":"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。","authors":"Carlos E Duran, Juan David Gutierrez-Medina, Jacobo Triviño Arias, Lina M Sandoval-Calle, Mario Barbosa, Elena Useche, Lorena Diaz-Ordoñez, Harry Pachajoa","doi":"10.1097/MD.0000000000040284","DOIUrl":null,"url":null,"abstract":"<p><strong>Rationale: </strong>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.</p><p><strong>Patient concerns: </strong>A 17-year-old African Colombian primigravid patient from the Colombian Pacific Coast with preeclampsia, grade 1 obesity, convulsive episodes and psychomotor agitation.</p><p><strong>Diagnoses: </strong>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).</p><p><strong>Interventions: </strong>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.</p><p><strong>Outcomes: </strong>Discharge was provided with family planning via subdermal implant contraception and established antihypertensive management.</p><p><strong>Lessons: </strong>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.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537606/pdf/","citationCount":"0","resultStr":"{\"title\":\"African-Colombian woman with preeclampsia and high-risk APOL1 genotype: A case report.\",\"authors\":\"Carlos E Duran, Juan David Gutierrez-Medina, Jacobo Triviño Arias, Lina M Sandoval-Calle, Mario Barbosa, Elena Useche, Lorena Diaz-Ordoñez, Harry Pachajoa\",\"doi\":\"10.1097/MD.0000000000040284\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Rationale: </strong>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.</p><p><strong>Patient concerns: </strong>A 17-year-old African Colombian primigravid patient from the Colombian Pacific Coast with preeclampsia, grade 1 obesity, convulsive episodes and psychomotor agitation.</p><p><strong>Diagnoses: </strong>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).</p><p><strong>Interventions: </strong>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.</p><p><strong>Outcomes: </strong>Discharge was provided with family planning via subdermal implant contraception and established antihypertensive management.</p><p><strong>Lessons: </strong>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.</p>\",\"PeriodicalId\":18549,\"journal\":{\"name\":\"Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2024-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537606/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/MD.0000000000040284\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MD.0000000000040284","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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.
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.