Year: 2025
Type: article
Study design: Case Report
Abstract: Alport syndrome (AS) is a genetic disorder characterized by progressive kidney dysfunction, hearing loss, and ocular abnormalities, with microscopic hematuria often being the initial presenting symptom. Despite being well-recognized among nephrologists, AS has historically been underdiagnosed or misdiagnosed, primarily due to restricted access to genetic testing and its underutilization in clinical practice. The advent of commercial genetic testing has improved diagnostic accuracy. This case report describes a patient with longstanding AS diagnosed late in life through genetic testing.
Source: Cureus
DOI: 10.7759/cureus.95927
Authors: Farid Arman, Niloofar Nobakht, Dianne S Cheung, Huma Kennedy
Institution: University of California, Los Angeles
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4415772159