Alport syndrome(AS)is a familial hereditary kidney disease caused by COL4An gene muta-tion.At present,there is no targeted radical therapy,and the clinical manifestations of the disease are related to the genetic pattern,which greatly hinders the clinical diagnosis of the disease.This article reports the medi-cal records of a patient with AS caused by a new mutation site of COL4A3 gene.Based on the clinical manifes-tations of the patient,the diagnosis and treatment of the patient were retrospectively analyzed,and the litera-ture related to the disease in recent years was reviewed to improve the clinical understanding of the disease and provide help for the early diagnosis and treatment of the disease.
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