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

Abstract

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.