Vietnam performs first kidney transplant on boy with genetic mutation

A boy in Hanoi suffering from a rare genetic mutation has been the first to receive a kidney transplant to avoid organ failure.

The unnamed boy, 11, underwent cryptorchidism surgery at age 2 and hypospadias-related intervention at 6. Until the age of 9 there were no abnormalities with his body, but in 2018 his eyes would sometimes swell when he awoke.

His family only took him to the National Children’s Hospital once the condition grew more severe, with the boy subsequently diagnosed with chronic kidney failure as a result of steroid resistant nephrotic syndrome.

Following the diagnosis, the boy had to be put on dialysis thrice a week at the hospital starting early last year.

Nguyen Thu Huong, head of the hospital’s Nephrology and Dialysis Department, said the boy might have to be put on dialysis for life if his kidneys were not replaced. Not only would it risk his cardiovascular health, but also severely diminish his quality of life, she added.

As such, the hospital’s kidney transplant committee took the boy’s case into account. Due to his condition, doctors genetically sequenced his genome and so linked his mutation to the WT1 gene, responsible for his nephritic syndrome and eventual kidney failure.

Vu Chi Dung, head of the Department of Endocrinology, Metabolism and Genetics, said the WT1 gene (Wilm’s tumor suppressor gene 1) plays a role in genital cell specialization and kidney formation. Mutations of the gene may result in genital and kidney abnormalities, among others.

On March 1, the boy received kidneys from live donors after an eight-hour surgery. It was the first kidney transplant at the hospital for someone with last-stage kidney failure due to mutations of the WT1 gene.

Le Anh Dung, head of the Department of Urology, said the surgery was a complex one, requiring coordination between multiple departments. The boy had to have both his kidneys and testicles removed to prevent cancer risks due to his mutation, before he could receive his new kidneys.

The boy’s health is now stable and he can eat normally. He is still being monitored at the hospital. Once he reaches puberty, he would have to be supplied with testosterone to facilitate normal sexual development and improve quality of life.

By Le Nga – VnExpress.net – March 13, 2021