How to Suspect and Approach Patients With Genetic Glomerular Disease.

Seminars in nephrology
Authors
Keywords
Abstract

Glomerular disease significantly contributes to chronic kidney disease worldwide, affecting both pediatric and adult patients. Traditionally, clinical evaluation and kidney biopsy have been the gold standards for accurately diagnosing glomerular disease. However, advancements in genomics have introduced genetic testing as a valuable tool to enhance clinical care by enabling timely and precise diagnoses. More than 100 genes have been implicated in glomerular diseases, with particular relevance to conditions such as focal segmental glomerulosclerosis, Alport syndrome, and thrombotic microangiopathy. This article outlines a systematic approach to suspecting and diagnosing genetic glomerular diseases, incorporating clinical history, physical examination, general laboratory findings, and kidney biopsy. It discusses strategies for selecting cases for genetic evaluation while also highlighting the importance of interpreting genetic findings in the context of the patient's clinical presentation and socioeconomic factors. Additionally, it emphasizes the potential impact of genetic testing on patient care. Given the increasing accessibility of genomic technology, nephrologists should integrate genetic testing into the routine clinical management of patients with glomerular diseases. Semin Nephrol 36:x-xx © 20XX Elsevier Inc. All rights reserved.

Year of Publication
2025
Journal
Seminars in nephrology
Volume
45
Issue
4
Pages
151653
Date Published
07/2025
ISSN
1558-4488
DOI
10.1016/j.semnephrol.2025.151653
PubMed ID
40664524
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