A Re-evaluation of Renal Biopsy-based Diagnoses Through a Genetic Analysis in Two Families with Alport Syndrome

Abstract

Alport syndrome is an inherited disorder characterized by progressive renal failure, sensorineural hearing loss, and ocular involvement due to pathogenic variants of genes encoding type IV collagen. A renal biopsy does not reveal specific findings in the early stages; thus, Alport syndrome may be diagnosed as another glomerular disease. We herein report two families that were previously diagnosed with other glomerular diseases based on renal biopsies and were then accurately diagnosed by genetic testing. An early diagnosis may lead to the avoidance of unnecessary biopsies and treatments, and appropriate management may improve the renal prognosis.