Background Alport syndrome (AS) is a kind of progressive hereditary nephritis induced by mutations of different genes that encode collagen IV. The affected individuals usually develop hematuria during childhood, accompanying with gradual deterioration of renal functions. In this study, the multi-pronged approach was employed to improve the diagnosis of AS. Methods Twenty-two children were diagnosed and treated at the Department of Pediatric Nephrology of Jilin University First Hospital between January 2017 and January 2020 using the multi-pronged approach. The following information was collected from patients, including age of onset, age at diagnosis, clinical manifestations, family history, renal pathology and genotype. Results All these 22 children were diagnosed with Alport syndrome according to the diagnostic criteria formulated by the Japanese Society of Nephrology (2015), among them, only 13 children met the diagnostic criteria released in 1988. All the 22 patients presented with hematuria, and proteinuria to varying degrees was observed in some patients. Three children suffered from hearing loss, but no child in the cohort had any visual problem or renal failure. Meanwhile, five patients were estimated to be at Stage 2, whereas the remaining 17 cases were at Stage 0. Renal biopsies were performed in 18 patients, including 14 showing glomerular basement membranes (GBM)-specific abnormalities. Moreover, 13 children were detected with mutations of genes encoding collagen IV. Conclusions The multi-pronged approach helps to improve the diagnosis of AS. Most patients do not have renal failure during childhood, but close assessment and monitoring are necessary. Also, the advancements in treatment are reviewed.

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.