Study focuses on inherited renal disease

Mnika's research focuses on genetically inherited renal cases in Africa

Nandi Ntini Social Justice News Reporter
Dr Khuthala Mnika
Dr Khuthala Mnika
Image: SUPPLIED

A South African researcher has joined the fight against kidney diseases from a different angle.

Dr Khuthala Mnika of the University of Cape Town has embarked on research on kidney ailments acquired through hereditary, in order to boost chances of early diagnoses and treatment.

The UCT lecturer said she realised there was not much research done on kidney diseases acquired through genes compared to what is known about kidney diseases sparked by other illnesses, more so chronic conditions such as diabetes and hypertension.

Mnika, a kidney human genetics researcher, said data on inherited kidney diseases in SA was nonexistent before she started her work.

I saw that in our healthcare system there is no genetic diagnosis for kidney patients
Dr Khuthala Mnika of the University of Cape Town

"I saw that in our healthcare system there is no genetic diagnosis for kidney patients," she explained.

“For instance, your genetics is like a book on how you need to function and on each of these functions we have chromosomes that have information on the genes that translate proteins. If there is a mutation which will disable a protein from functioning, it won’t do its job because proteins don’t work in silos.”

Mnika, who originally hails from Matatiele, also told Sowetan she chose the study of kidneys after her initial work on sickle cell disease, an illness that blocks the flow of blood to the internal organs, depriving them of oxygen.

While studying sickle cell disease, she discovered that only patients with recorded cases of kidney failure had hypertension or diabetes or both. There were no recorded cases of patients who inherited kidney disease from their grandparents or a family member.

She then got fascinated about why the inherited mechanism of kidney disease was not yet resolved. 

“In terms of the genetic inheritance, you cannot escape it, but you can live a healthy life to delay your kidney failure to come through since you are prediabetic,”  

Despite the great genetic diversity on the continent, African genomes remain understudied, with negative implications for African populations, she said.

For Mnika, this is one of the reasons why it is so important to support and mentor more young African researchers who can work to fill these gaps on the continent.

“Too often, diagnosis of chronic kidney disease is missed in Africa and then patients cannot be properly treated. This can be particularly tragic in children who may die before they are properly diagnosed,” she said. 

Her human genetic study still has two or more years to go until it's ready for publishing.

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