End-Stage Kidney Disease in Adolescence -as Initial Presentation of Alport Syndrome: A Case Report

Background: Alport Syndrome (AS) is a genetic disorder of type 4 collagen presenting with the classic triad of progressive nephropathy, sensorineural hearing loss, and ocular pathologies. However, phenotypic features differ across individuals depending upon the type of mutation. Clinical Description: A 15-year-old boy presented with generalized swelling, altered sensorium, shortness of breath, and reduced urine output. He also had blurring of vision and hearing loss for a few months. On examination, the child had severe pallor and was in congestive heart failure. Management and Outcome: Investigations revealed severe anemia, impaired kidney function, and acidosis. Urinalysis showed hematuria and proteinuria. Ultrasound showed bilaterally contracted kidneys with loss of corticomedullary differentiation. Pure tone audiometry revealed bilateral hearing impairment, and ophthalmological assessment revealed lenticonus. Genetic testing revealed Alport’s syndrome type 3B, autosomal recessive. The child was thus diagnosed as end-stage kidney disease (ESKD) due to AS and was started on hemodialysis with supportive management. Conclusion: This report highlights the fact that AS may remain silent and asymptomatic until the development of ESKD. This case is also remarkable as it shows that ESKD in AS may develop as early as the second decade of life.