Work

Autosomal Dominant Alport Syndrome Diagnosed in an Elderly Man

Year: 2025

Type: article

Abstract: Autosomal dominant Alport syndrome (ADAS) is an uncommon diagnosis and is often missed in patients with chronic kidney disease of unknown origin unless specific genetic testing is performed. It results from heterozygous mutations in the COL4A3 and COL4A4 genes. The clinical presentation is variable but generally milder than that of X-linked or autosomal recessive Alport syndrome. In this article, we present the case of a 78-year-old man who was diagnosed with ADAS during evaluation in a nephrology clinic. We also discuss the condition and the challenges related to the terminology surrounding Alport syndrome.

Source: Cureus

DOI: 10.7759/cureus.94725

Authors: Reza Khorsan, Farid Arman, Mrinalini Sarkar

Institution: University of California, Los Angeles

Language: English

Topic: Renal Diseases and Glomerulopathies

Subfield: Nephrology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4415260785