Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN.
Adv Chronic Kidney Dis. 2022 May;29(3):225-230. doi: 10.1053/j.ackd.2021.08.003.
Recent trends in the diagnosis, treatment, and classification of collagen IV-associated kidney disease are likely to result in increasing numbers of people in adult nephrology practices who have a confirmed diagnosis of Alport syndrome. These trends include the increasing use of genetic testing in the diagnostic evaluation of people with hematuria, focal segmental glomerulosclerosis, and chronic kidney disease of unknown etiology; early treatment with inhibitors of the renin-angiotensin-aldosterone system to delay kidney failure; and application of an expanded definition of Alport syndrome based on genotype rather than phenotype. This commentary discusses these trends and their implications for the adult nephrologist.
近年来，胶原 IV 相关肾脏疾病的诊断、治疗和分类趋势可能导致越来越多的成人肾脏科医生确诊 Alport 综合征。这些趋势包括在血尿、局灶节段性肾小球硬化和病因不明的慢性肾脏病患者的诊断评估中越来越多地使用基因检测；早期使用肾素-血管紧张素-醛固酮系统抑制剂延缓肾衰竭；以及基于基因型而非表型扩大 Alport 综合征的定义。本评论讨论了这些趋势及其对成人肾脏科医生的影响。
