Research progress on pathogenesis and diagnosis and treatment of Alport syndrome

Alport syndrome is a relatively common inherited kidney disease, characterized by significant clinical symptoms, which can lead to renal failure and progress to end-stage renal disease in the late stage. This disease does not only affect the renal system, but also involve other tissues and organs containing basement membranes. Recently, with the advancement of genetic engineering technology, there has been a deeper understanding on the molecular pathogenesis of Alport syndrome, and the application of gene sequencing technology has provided new means for diagnosis, supplementing the traditional pathological examination method of renal biopsy. In addition, gene-based therapies are also under exploration, opening up new directions for future treatment strategies. This paper aimed to summarize the relevant knowledge of Alport syndrome based on the current progress in genetic researches, with the hope of providing a theoretical basis for clinical practice.