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Genetic testing in nephrotic syndrome--challenges and opportunities
Rasheed A Gbadegesin1, Michelle P Winn, William E Smoyer
1Department of Pediatrics and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.
Nature Reviews. Nephrology
|January 17, 2013
Summary
Genetic testing for monogenic nephrotic syndrome is not routine but warranted in specific cases. Early diagnosis and genetic counseling are crucial for informed treatment decisions and transplantation planning.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Monogenic nephrotic syndrome (MNS) is rare but offers insights into disease pathogenesis.
- Genetic testing presents clinical challenges in diagnosing and managing nephrotic syndrome.
Approach:
- Reviewing current data on MNS genetic testing indications.
- Evaluating the role of genetic information in clinical decision-making.
- Assessing treatment responses and transplantation protocols.
Key Points:
- Routine genetic testing for all nephrotic syndrome patients is not currently justified.
- Testing is recommended for congenital/infantile onset, family history, or associated malformations.
- Informed consent regarding benefits, risks, and treatment outcomes is essential.
Conclusions:
- Intensive immunosuppression may not be indicated if remission isn't achieved within 6 weeks for MNS.
- Genetic testing of family members is advised before living-related kidney transplantation.
- Further multicenter studies and RCTs are needed to define MNS burden and treatment efficacy.
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