Khosravi Maryam, Walsh Stephen B
UCL Centre for Nephrology, Royal Free Hospital, University College London, London, UK.
Pediatr Nephrol. 2015 Mar;30(3):385-95. doi: 10.1007/s00467-014-2779-6. Epub 2014 Feb 25.
The inherited tubulopathies are lifelong disorders and their clinical features and complications may present quite different challenges in adulthood from those in childhood. In this review we outline the pathophysiology and documented complications (including the late and unusual) of the monogenic tubulopathies from the perspective of the adult nephrologist.
遗传性肾小管疾病是终身性疾病,其临床特征和并发症在成年期可能带来与儿童期截然不同的挑战。在本综述中,我们从成年肾脏病专家的角度概述单基因肾小管疾病的病理生理学和已记录的并发症(包括晚期和不常见的并发症)。