Department of Nephrology, Royal Infirmary of Edinburgh, NHS Lothian, Edinburgh, UK.
Department of Pediatrics, Division of Nephrology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, USA.
Pediatr Nephrol. 2018 Oct;33(10):1671-1683. doi: 10.1007/s00467-017-3835-9. Epub 2017 Nov 12.
The association between ear and kidney abnormalities has long been recognized; however, the connection between these two disparate organs is not always straightforward. Although Alport syndrome is the most well-known, there are over 20 disorders that need to be considered in the differential diagnosis of patients with both ear and kidney abnormalities. Commonalities are present between the kidney and ear in a number of structural proteins, developmentally important transcription factors, ciliary proteins, and channel proteins, and mutations in these pathways can lead to disease in both organ systems. This manuscript reviews the congenital disorders with both hearing and kidney manifestations.
耳肾异常的关联早已为人所知；然而，这两个截然不同的器官之间的联系并不总是那么直接。虽然 Alport 综合征最为人所知，但在鉴别诊断同时出现耳肾异常的患者时，需要考虑 20 多种以上的疾病。在多种结构蛋白、发育过程中重要的转录因子、纤毛蛋白和通道蛋白中，肾脏和耳朵之间存在共同点，这些通路中的突变可导致两个器官系统都发生疾病。本文综述了同时具有听力和肾脏表现的先天性疾病。
