{"title":"单基因遗传性高血压的研究进展。","authors":"Bingjie Guo, Mengyuan Li, Yingqing Feng, Junying Yang, Hongwei Jiang","doi":"10.1016/j.amjms.2025.09.002","DOIUrl":null,"url":null,"abstract":"<p><p>Hypertension is one of the most significant preventable health risk factors globally. Among its various forms, monogenic hypertension, although rare, warrants attention. As awareness of monogenic hypertension grows within both the public and medical communities, research efforts are intensifying. Monogenic hypertension can primarily be categorized into three types: hypertension associated with abnormal distal renal tubular sodium transport, hypertension linked to adrenal steroid synthesis or receptor abnormalities, and other variants. These classifications are based on the functional impact and mutation type of the affected gene, with each category exhibiting distinct pathophysiological mechanisms and clinical manifestations. Recent advancements in gene sequencing technology have led to substantial progress in understanding monogenic hypertension. An increasing number of pathogenic genes have been successfully identified, providing a theoretical foundation for a deeper comprehension of the pathophysiological mechanisms underlying monogenic hypertension and for the development of novel treatment strategies.</p>","PeriodicalId":94223,"journal":{"name":"The American journal of the medical sciences","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Advances in research on monogenic hereditary hypertension.\",\"authors\":\"Bingjie Guo, Mengyuan Li, Yingqing Feng, Junying Yang, Hongwei Jiang\",\"doi\":\"10.1016/j.amjms.2025.09.002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Hypertension is one of the most significant preventable health risk factors globally. Among its various forms, monogenic hypertension, although rare, warrants attention. As awareness of monogenic hypertension grows within both the public and medical communities, research efforts are intensifying. Monogenic hypertension can primarily be categorized into three types: hypertension associated with abnormal distal renal tubular sodium transport, hypertension linked to adrenal steroid synthesis or receptor abnormalities, and other variants. These classifications are based on the functional impact and mutation type of the affected gene, with each category exhibiting distinct pathophysiological mechanisms and clinical manifestations. Recent advancements in gene sequencing technology have led to substantial progress in understanding monogenic hypertension. An increasing number of pathogenic genes have been successfully identified, providing a theoretical foundation for a deeper comprehension of the pathophysiological mechanisms underlying monogenic hypertension and for the development of novel treatment strategies.</p>\",\"PeriodicalId\":94223,\"journal\":{\"name\":\"The American journal of the medical sciences\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2025-09-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The American journal of the medical sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/j.amjms.2025.09.002\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The American journal of the medical sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.amjms.2025.09.002","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Advances in research on monogenic hereditary hypertension.
Hypertension is one of the most significant preventable health risk factors globally. Among its various forms, monogenic hypertension, although rare, warrants attention. As awareness of monogenic hypertension grows within both the public and medical communities, research efforts are intensifying. Monogenic hypertension can primarily be categorized into three types: hypertension associated with abnormal distal renal tubular sodium transport, hypertension linked to adrenal steroid synthesis or receptor abnormalities, and other variants. These classifications are based on the functional impact and mutation type of the affected gene, with each category exhibiting distinct pathophysiological mechanisms and clinical manifestations. Recent advancements in gene sequencing technology have led to substantial progress in understanding monogenic hypertension. An increasing number of pathogenic genes have been successfully identified, providing a theoretical foundation for a deeper comprehension of the pathophysiological mechanisms underlying monogenic hypertension and for the development of novel treatment strategies.