What has been the impact of your ISN Clinical Research Project?

The grant allowed me to publish an article on HIV associated nephropathy.  I also assisted Mr Wenkosi Qulu to publish his Master’s Thesis on “The role of APOL 1 variants in the development of focal segmental glomerulosclerosis in South African children with idiopathic and HIV related nephrotic syndrome”. We showed that in children APOL1 does not have a significant role to play in the development of HIVAN and therefore should not be tested in the South African Population. Undertaking this study allowed us to collaborate with researchers at the NIH and Mr Qulu learned to do DNA extraction and next generation sequencing.  The most rewarding achievement was that Mr Qulu (who comes from a previously disadvantaged background) obtained his Master’s Degree.

What does the future look like?

We studied genetic mutations in steroid resistant nephrotic syndrome. 20-30% of children have an NPHS2 mutation. They do not respond to additional immunosuppression. All had FSGS. This makes a case for genetic testing as the first line of management. Funding is a major limitation to large studies but we are hoping for support from the ISN for future studies.