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Genetic Nephrotic Syndrome in Children and Adolescents: An Update
Jennifer D Varner1, Brandon M Lane2, Rasheed A Gbadegesin2
1Department of Pediatrics, Division of Nephrology, Duke University, Durham, NC.
Advances in Kidney Disease and Health
|June 22, 2026
Summary
Monogenic nephrotic syndrome in children has a poor prognosis with standard treatments. Genetic testing is crucial for accurate diagnosis, guiding treatment, and improving outcomes for this kidney disease.
Area of Science:
- Pediatric Nephrology
- Genetics
- Glomerular Diseases
Background:
- Idiopathic nephrotic syndrome is a common glomerular disease in children.
- Monogenic forms of nephrotic syndrome show resistance to immunosuppression and risk of kidney failure.
- Genetic testing advancements have identified over 100 causative genes, primarily affecting the podocyte and glomerular filtration barrier.
Purpose of the Study:
- To highlight the significance of molecular diagnosis in nephrotic syndrome.
- To discuss the implications of genetic testing for clinical management and treatment strategies.
- To address the lack of standardized guidelines for genetic testing in nephrotic syndrome.
Main Methods:
- Review of current literature on genetic causes of nephrotic syndrome.
- Analysis of the impact of genetic testing on clinical practice.
- Discussion of treatment outcomes in monogenic nephrotic syndrome.
Main Results:
- Over 100 single-gene causes of nephrotic syndrome identified.
- Genetic diagnosis impacts medication choice, prognosis, and transplant planning.
- Patients with monogenic nephrotic syndrome have lower remission rates with immunosuppressants.
Conclusions:
- Molecular diagnosis of nephrotic syndrome is essential for personalized medicine.
- Genetic testing aids in predicting treatment response and guiding therapeutic decisions.
- Further research is needed to establish guidelines for genetic testing and explore alternative treatments for monogenic nephrotic syndrome.
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