Grand Rounds in Pediatric Nephrology — an ISN-IPNA Sister Centers initiative: Pediatric Renal Genetics: New Advances

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Grand Rounds in Pediatric Nephrology — an ISN-IPNA Sister Centers initiative: Pediatric Renal Genetics: New Advances

The ISN, in partnership with the International Pediatric Nephrology Association (IPNA) and Dr. Rukshana Shroff, Great Ormond Street Hospital, London, UK, has developed a case-based online teaching program, “Grand Rounds in Pediatric Nephrology,” to support the training needs of active Sister Renal Centers (SRC) pairs and other centers in LMICs in light of restrictions imposed by the COVID-19 pandemic.

Advances in genetic testing has accelerated the evaluation, diagnosis and treatment options for many of the most common conditions in pediatric nephrology. Confirmation of a defect may aid in prognosticating the clinical course throughout the pediatric life course including pre- & post transplantation, obviate the need for renal biopsy, avoidance of unnecessary immunosuppression, and encourage counselling, screening of siblings, and antenatal diagnosis as in congenital nephrotic syndrome. Identifying genotype-phenotype correlations may direct precision-targeted treatment and new agent development.

 

Learning objectives:

  1. Review the indications to perform genetic testing in pediatric renal disorders.
  2. Considerations for targeted therapies.
  3. Availability of ideal resources for implementation of genetic testing.

Further reading:

  1. IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome. Agnes Trautmann et al. Pediatric Nephrology (2020) 35:1529-1561.
  2. Diagnostic and clinical utility of genetic testing in children with kidney failure. Jing Chen, et al. Pediatric Nephrology (2021) May
  3. Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how? Rebecca Preston et al. Pediatric Nephrology (2019) 34:195-210.
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