Featuers Of Clinical Phenotype And Genotype In Alport Syndrome In A Monocentric Study

Objective: To analyze the clinical features and gene mutation of children with Alport syndrome(AS).Methods: From May 2013 to May 2017,clinical and pathological information gathered from 28 patients was analyzed.Results: All of the 28 children were diagnosed with AS by gene sequencing,among whom 2 cases were X-linked and autosomal dominant inheritance concurrently,21 children were X-linked Alport syndrome(XLAS),1 children were autosomal recessive inheritance(ARAS),and 4 children were autosomal dominant inheritance(ADAS).Next-generation sequencing detected 34 different gene mutations of COL4A3,COL4A4,COL4A5 and COL4A6,including 25 missense mutations,4 frameshift mutations,3 Shear mutations,2 stop mutations,and 1 large fragment deletion,and there were 24 gene mutations unreported before.28 children had an onset of hematuria or proteinuria,23 cases had a positive family history,2 cases had hearing loss,3 cases had Ocular changes,5 pathogenesis renal and insufficiency were found in the children.Renal biopsy was performed on 17 children,8minimal change disease,4 mesangial proliferative glomerulonephritis,4 Alport syndrome changes,and 1 thin basement membrane nephropathy changes.And only 5 cases' immunofluorescence staining were negative.Conclusion: XLAS accounts for most AS patients and missense mutation is the main type in pathogenic mutations.Altogether,28 mutations without disease notification were found.Most of children showed MCD in renal biopsy,typical electron microscope manifestations of AS are infrequently.