Kidney Disease a Significant Cause of Morbidity and Mortality in African Children
‘My PhD journey has been an emotional roller-coaster but I am extremely proud of not being defeated by circumstances. This achievement is the culmination of many hours of hard work, discipline and perseverance. Not only did my degree teach me the fundamentals of being a medical scientist, but it has also humbled me and put me in situations where I grew as an individual,’ said Dr Louansha Nandlal on obtaining her Doctor of Philosophy (Medicine) degree.
Her study, which assessed the clinical and genetic profile of the top 10 podocyte genes implicated in congenital nephrotic syndrome (CNS) and steroid-resistant nephrotic syndrome (SRNS), was supervised by Professor T Naicker and Dr V Ramsuran.
Nandlal was also actively involved in COVID-19 testing at UKZN and received an appreciation award from the College of Health Sciences.
Nephrotic Syndrome (NS) is a kidney disease characterised by heavy proteinuria, hypoalbuminemia, oedema and hyperlipidaemia. In South Africa, CNS and SRNS are a significant cause of morbidity and mortality, particularly among African children.
The study found that mutations in NPHS1, NPHS2 and CD2AP genes accounted for 44.44% of congenital NS cases, with the NPHS2 p.V260E mutation a cause of 23.81% of steroid-resistant NS among children of African ancestry. Sequencing NPHS2 p. V260E in children of African ancestry has a predictor test value for the detection of congenital NS and SRNS. Detection of pathogenic mutations will also obviate the need for a kidney biopsy and the use of additional immunosuppressant drugs, thus avoiding an invasive procedure and the serious adverse effects of treatment. Precision genetic diagnosis will enable clinicians to provide genetic counselling, detect carriers, and propose prenatal diagnosis to couples at risk.
This is the largest study in a paediatric South African population that performed intensive mutational sequencing of individuals with congenital and steroid-resistant NS.
Twenty-seven-year-old Nandlal is currently a post-doctoral fellow under the mentorship of Ramsuran. She is focusing on the micro RNA profiles of HIV-infected individuals.
‘Medical science was always a childhood dream for me. Alongside this, I’ve always had a genuine interest in health and the causes of diseases. I hope that my research findings will make a difference in South Africa’s healthcare sector, significantly reducing morbidity and mortality rates. I feel that individuals are more dedicated when they are passionate about a career path.’
She believes that her PhD is a stepping stone to greater achievements and would like to run her own research unit with the aim of improving the lives of communities.
Words: Lihle Sosibo