The School of Clinical Medicine’s Paediatrics and Child Health Junior Lecturer, Dr Reratilwe Mphahlele’s poster presentation on Cystic Fibrosis (CF) in South Africa, made the top five at the 16th International Congress on Paediatric Pulmonology (CIPPXVI) held recently in Lisbon, Portugal.

According to its website, CIPP attracts over 500 delegates from around the world and is the only global meeting that is fully devoted to Pediatric Pulmonology.

Dr Mphahlele was competing with over 150 poster presentations from 60 international countries including UK, Singapore, China, India and Switzerland.

I am so excited about the prize,’ said Dr Mphahlele about her work titled: Genetic Mutations and Presentations in a Cystic Fibrosis (CF) Clinic in a Low/Middle Income Country.

Supervised by UKZN’s HOD: Department of Paediatrics and Child Health, Professor Refiloe Masekela, the poster on Cystic Fibrosis in South Africa highlighted the problem of missing the genetic disorder in Black African children and ideas on how this can be solved.

Cystic fibrosis (CF) is a genetic disorder that causes malnutrition and lung problems. It is common in populations of European descent and has had increasing prevalence in other populations worldwide, including in Black Africans.

‘Black African children with CF commonly present with nutritional and growth abnormalities similarly caused by Malnutrition, HIV, and Tuberculosis. For this reason among others, recognition of CF in Black Africans in a South African context is difficult,’ said Mphahlele.

Her study describes the clinical, molecular, laboratory and spirometry findings in children attending the CF Clinic in Inkosi Albert Luthuli Central Hospital.

The study found that recognition of CF in Black African patients is difficult, and even when available, commercial genetic testing misses some mutations, leading to late diagnosis and consequent detrimental effects on their nutrition and lung function.

‘Through collaborative efforts with the European Cystic Fibrosis Diagnostic Network Working Group, gene sequencing provided a definitive diagnosis to all the patients in the study whose mutations had been missed.  The study highlighted that gene sequencing in CF can identify new and unique mutations in Africa and provide country-specific CF data on indigenous populations. This approach is costly, but can be improved with collaborative work,’ explained Mphahlele.

She sees her achievement supported by her supervisor and collaborators as inspiration to further research in this field and encourages other young investigators to put UKZN on the map with critical research.

Words: Nombuso Dlamini