A case of Unmasking Alport Syndrome in a nephrotic child: A Case Report.

Introduction: Alport syndrome is a hereditary type IV collagen disorder presenting with renal and extrarenal manifestations. Classic early signs include persistent hematuria, proteinuria, and sensorineural hearing loss. Diagnosis in children can be challenging due to non-specific pathology and preserved renal function, necessitating genetic confirmation. Case Presentation: An 8-year-old Bangladeshi girl presented with progressive periorbital and pedal edema with abdominal distension. Evaluation revealed nephrotic-range proteinuria (~5.95 g/day), hypoalbuminemia (2.0 g/dL), hypercholesterolemia (487 mg/dL), and microscopic hematuria with sterile culture. Renal function remained normal (creatinine ~0.4-0.6 mg/dL), with normal complement levels and negative viral serology. Ultrasonography showed mild ascites and bilateral renal echogenicity. Audiology confirmed bilateral sensorineural hearing loss, and ophthalmology documented retinal flecks without lenticonus. Family history was notable for consanguinity and relatives with renal and hearing impairment. Renal biopsy demonstrated a non proliferative glomerular pattern with minimal chronic changes and negative direct immunofluorescence. Whole-exome sequencing identified a homozygous pathogenic stop-gain COL4A3 variant (c.4486C>T; p. Arg1495Ter), establishing autosomal recessive Alport syndrome. Conclusions: This case underscores the value of an integrated clinical, pathological, and genetic approach in pediatric patients with atypical nephrotic presentations. Genetic confirmation facilitated accurate diagnosis, early nephroprotective therapy, and family counseling, illustrating a model for managing hereditary nephropathies in resource-limited settings.