A Review of Multi-dimensional Diagnosis of Alport Syndrome in 22 Children in Northeast China

Abstract

Background Alport syndrome (AS) is progressive hereditary nephritis due to different gene mutations. Affected individuals usually develop hematuria during childhood with gradual deterioration of renal functions. We adopted multi-dimensional methods to diagnose Alport syndrome in order to decrease the misdiagnosis.Methods Twenty-two children were diagnosed and managed by the Department of Pediatric Nephrology of Jilin University First Hospital between January 2017 and January 2020 through multi-dimensional methods. Information collected included age of onset, age at diagnosis, clinical manifestations, family history (FH), renal pathology and their genotype. Results All patients presented with hematuria with various degrees of proteinuria in partial patients. While three children suffered from hearing loss, none of the children in the cohort had any visual problem or renal failure. Besides five patients estimated as Stage 2, the remain seventeen cases were at Stage 0. Renal biopsy were obtained in eighteen patients and fourteen of them showed glomerular basement membranes (GBM)-specific abnormalities. Thirteen children had mutations of the collagen IV genes.Conclusion Combined with the importance of early diagnosis and economic factors, we adopted multi-dimensional methods to diagnose Alport syndrome and estimate the risk of progression. We also reviewed the therapy progress.