How to Suspect and Approach Patients With Genetic Glomerular Disease
3
Issued Date
2025-01-01
Resource Type
ISSN
02709295
eISSN
15584488
Scopus ID
2-s2.0-105010887419
Journal Title
Seminars in Nephrology
Rights Holder(s)
SCOPUS
Bibliographic Citation
Seminars in Nephrology (2025)
Suggested Citation
Wongboonsin J., Gupta A., Quinlan C. How to Suspect and Approach Patients With Genetic Glomerular Disease. Seminars in Nephrology (2025). doi:10.1016/j.semnephrol.2025.151653 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/111383
Title
How to Suspect and Approach Patients With Genetic Glomerular Disease
Author(s)
Author's Affiliation
Brigham and Women's Hospital
University of Bristol
Boston Children's Hospital
Royal Children's Hospital, Melbourne
Broad Institute
Murdoch Children's Research Institute
Great Ormond Street Hospital for Children NHS Foundation Trust
Siriraj Hospital
Melbourne Medical School
Bumrungrad International Hospital
University of Bristol
Boston Children's Hospital
Royal Children's Hospital, Melbourne
Broad Institute
Murdoch Children's Research Institute
Great Ormond Street Hospital for Children NHS Foundation Trust
Siriraj Hospital
Melbourne Medical School
Bumrungrad International Hospital
Corresponding Author(s)
Other Contributor(s)
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.