X-linked Alport syndrome (XLAS) is a rare hereditary nephropathy characterized by defects in type IV collagen. It represents the most common subtype of Alport syndrome, with an estimated prevalence of around 1 in 10,000, roughly fourfold higher than autosomal recessive forms. Here, we describe eight pediatric patients with XLAS who exhibited ongoing hematuria and proteinuria and report their outcomes after hydroxychloroquine (HCQ) administration to assess its potential as an early treatment strategy. This retrospective study evaluated 8 patients diagnosed with XLAS who presented with persistent hematuria and proteinuria at varying ages of disease onset and received hydroxychloroquine (HCQ) therapy. Urinary erythrocyte counts and urinary albumin levels were assessed. Descriptive analyses were applied to characterize treatment response to HCQ at 1, 3, and 6 months of follow-up. Following 1, 3, and 6 months of hydroxychloroquine (HCQ) therapy, reductions in urinary erythrocyte counts were observed in 4, 7, and 8 children, respectively. A decline in proteinuria was noted in 2, 4, and 5 patients at the corresponding time points. One patient developed increased proteinuria after 1 month of treatment; this elevation persisted at 3 months but subsequently decreased to a minimal level by the 6-month follow-up. We report the first evidence suggesting a potential therapeutic effect of hydroxychloroquine (HCQ) in XLAS patients with hematuria and persistent proteinuria. The findings indicate that HCQ may help reduce both hematuria and proteinuria.
