[ genotypes and clinical characteristics of children with Alport syndrome].

Objectives: To investigate the genotypes of the pathogenic gene and the characteristics of clinical phenotypes in children with Alport syndrome (AS).

Methods: A retrospective analysis was performed for the genetic testing results and clinical data of 19 AS children with gene mutations.

Results: Among the 19 children with AS caused by gene mutations, 1 (5%) carried a new mutation of the gene, i.e., c.3372A>G(p.P1124=) and presented with AS coexisting with IgA vasculitis nephritis; 3 children (16%) had large fragment deletion of the gene, among whom 2 children (case 7 had a new mutation site of loss51-53) had gross hematuria and albuminuria at the onset, and 1 child (case 13 had a new mutation site of loss3-53) only had microscopic hematuria, while the other 15 children (79%) had common clinical phenotypes of AS, among whom 7 carried new mutations of the gene. Among all 19 children, 3 children (16%) who carried gene mutations also had gene mutations, and 1 child (5%) had gene mutations. Among these children with double gene mutations, 2 had gross hematuria and proteinuria at the onset.

Conclusions: This study expands the genotype and phenotype spectrums of the pathogenic gene for AS. Children with large fragment deletion of the gene or double gene mutations of with or tend to have more serious clinical manifestations.