Journal
PEDIATRIC NEPHROLOGY
Volume 34, Issue 11, Pages 2279-2293Publisher
SPRINGER
DOI: 10.1007/s00467-018-4093-1
Keywords
Nephrotic syndrome; SRNS; Genetic SRNS; Treatment; Genetic SRNS
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Funding
- National Institutes of Health (NIH)
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) [5R01DK098135, 5R01DK094987]
- Duke Pediatric Research Scholars (DPRS) program
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The pathogenesis of steroid-resistant nephrotic syndrome (SRNS) is not completely known. Recent advances in genomics have elucidated some of the molecular mechanisms and pathophysiology of the disease. More than 50 monogenic causes of SRNS have been identified; however, these genes are responsible for only a small fraction of SRNS in outbred populations. There are currently no guidelines for genetic testing in SRNS, but evidence from the literature suggests that testing should be guided by the genetic architecture of the disease in the population. Notably, most genetic forms of SRNS do not respond to current immunosuppressive therapies; however, a small subset of patients with monogenic SRNS will achieve partial or complete remission with specific immunomodulatory agents, presumably due to non-immunosuppressive effects of these agents. We suggest a pragmatic approach to the therapy of genetic SRNS, as there is no evidence-based algorithm for the management of the disease.
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