Child Kidney Dis.
2021 Jun;25(1):14-21. 10.3339/jkspn.2021.25.1.14.
Clinical Genetic Testing in Children with Kidney Disease
- Affiliations
-
- 1Department of Pediatrics, Korea University Ansan Hospital, Korea University College of Medicine, Ansan, Korea
- 2Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
- 3Medical Genetics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
- KMID: 2518364
- DOI: http://doi.org/10.3339/jkspn.2021.25.1.14
Abstract
- Chronic kidney disease, the presence of structural and functional abnormalities in the kidneys, is associated with a lower quality of life and increased morbidity and mortality in children. Genetic etiologies account for a substantial proportion of pediatric chronic kidney disease. With recent advances in genetic testing techniques, an increasing number of genetic causes of kidney disease continue to be found. Genetic testing is recommended in children with steroid-resistant nephrotic syndrome, congenital malformations of the kidney and urinary tract, cystic disease, or kidney disease with extrarenal manifestations. Diagnostic yields differ according to the category of clinical diagnosis and the choice of test. Here, we review the characteristics of genetic testing modalities and the implications of genetic testing in clinical genetic diagnostics.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Genetic tests in children with steroid-resistant nephrotic syndrome
- Direct-to-consumer genetic testing
- Genetic Testing and Genetic Counseling
- Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics
- Regulated sandbox and disease-related genetic tests as a direct-to-consumer test
