Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome

Abstract excerpt

Introduction X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal disease in early or middle adulthood, and disease severity is strongly correlated with genotype. However, the clinical course in female patients has rarely been reported. Methods We conducted a retrospective...

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