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Induction of Nephrotic Syndrome in Mice by Retrobulbar Injection of Doxorubicin and Prevention of Volume Retention by Sustained Release Aprotinin
Published on: May 6, 2018
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Genetic testing in steroid-resistant nephrotic syndrome: when and how?
Svjetlana Lovric1, Shazia Ashraf1, Weizhen Tan1
1Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Summary
Steroid-resistant nephrotic syndrome (SRNS) is a major cause of kidney disease. Genetic testing can identify specific causes, enabling personalized treatment and improving patient outcomes.
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Steroid-resistant nephrotic syndrome (SRNS) is a leading cause of chronic kidney disease in young individuals.
- Histologically, SRNS often presents as focal segmental glomerulosclerosis (FSGS), with a significant risk of post-transplant relapse.
- Current treatments for SRNS are limited, highlighting the need for novel therapeutic strategies.
Purpose of the Study:
- To investigate the role of genetic mutations in the pathogenesis of SRNS.
- To determine the frequency of monogenic causes in SRNS patients presenting before age 25.
- To establish the utility of genetic analysis for diagnosis, treatment, and personalized medicine in SRNS.
Main Methods:
- Review of recent genetic studies identifying mutations in SRNS-causing genes.
- Analysis of the frequency of detectable mutations in SRNS patients under 25 years old.
- Evaluation of the implications of genetic findings for diagnosis and treatment strategies.
Main Results:
- Over 30 genes have been identified with mutations causing monogenic SRNS.
- Approximately 30% of SRNS cases presenting before age 25 have an identifiable genetic mutation.
- These mutations implicate podocyte dysfunction as central to SRNS pathogenesis.
Conclusions:
- SRNS and FSGS represent a spectrum of diseases with identifiable genetic etiologies.
- Genetic mutation analysis should be offered to all SRNS patients under 25 for diagnosis and potential targeted therapies.
- Genetic findings facilitate precision medicine approaches for SRNS management.
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