A 11-year-old boy in Hanoi suffering from a rare genetic mutation has been the first to receive a kidney transplant to avoid last-stage kidney failure due to mutations of the WT1 gene (Wilm’s tumor suppressor gene 1).

Le Anh Dung, head of the Department of Urology under the National Children's Hospital, said the surgery was a complex one, requiring coordination among multiple departments.

The boy, N.M.T, underwent cryptorchidism surgery when he was two years old and hypospadias-related intervention at six. Until the age of nine, there were no abnormalities with his body, but in 2018 his eyes would sometimes swell when he woke up.

After 10 days of kidney transplant, N.M.T’s health is now stable and he can eat normally. Photo: The National Children's Hospital

His family took him to the National Children's Hospital once the condition grew more serious, as the boy subsequently was diagnosed with chronic kidney failure as a result of steroid resistant nephritic syndrome.

"The boy received kidneys from live donors after an eight-hour surgery. He had to have both his kidneys and testicles removed to prevent cancer risks due to his mutation, before he could receive his new kidneys," Dung said.

He noted that following the diagnosis, the boy had to be put on dialysis three times a week at the hospital since early 2020.

Nguyen Thu Huong, head of the Nephrology and Dialysis Department under the National Children's Hospital, 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,” Huong said.

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

Due to the boy's condition, doctors genetically sequenced his genome and so linked his mutation to the WT1 gene, responsible for his nephritic syndrome and eventual kidney failure.

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.

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