Abstract
Background: Alport Syndrome (AS) is a genetic kidney disorder characterized by progressive kidney failure. It is often misdiagnosed as other kidney diseases due to its clinical phenotypic heterogeneity and the lack of specific clinical symptoms in early childhood.
Methods: This study retrospectively analyzed clinical data of 7 pediatric patients admitted to Xi'an Children's Hospital between 2016 and 2022 due to clinical manifestations of nephrotic syndrome.
Results: The 7 patients were from six families, and 4 patients had a family history of kidney disease. The median(IQR) age at presentation was 9.8 (7.8, 10.8) years and median follow-up was 4.4 (2.4–8.0) years.They all had hematuria, nephrotic proteinuria and hypoproteinemia. Kidney biopsy revealed focal segmental glomerulosclerosis (FSGS) on light microscopy. Among the patients, 8 pathogenic gene mutations were detected, 6 patients had mutations in the COL4A5gene. Furthermore, the mutations in 6 patients (85.7%) were severe.Treatment involved administering renin-angiotensin-aldosterone system (RAAS) inhibitors to all the patients starting from their first visit. Up to the present follow-up time, all the 7 patients exhibited varying degrees of reduction in proteinuria, with 1 of them experiencing kidney function decline, and 1 progressing to end-stage kidney disease (ESKD).
Conclusion: AS should be considered in patients co-exhibiting nephrotic syndrome and hematuria, especially those with a poor response to steroid therapy or with a family history of hematuria. Additionally, AS should be considered in the genetic diagnosis of patients with kidney pathology consistent with FSGS. The most common pathogenic gene in AS patients with nephrotic syndrome is the COL4A5 gene, and most of them have severe mutations.