New genes linked to childhood nephrotic syndrome identified
HEALTH A-Z

New genes linked to childhood nephrotic syndrome identified

Most patients develop a corticosteroid-responsive nephrotic syndrome that responds to steroids and immunosuppressants and goes into remission, but at least 20% of the cases are resistant strains that occur repeatedly in adulthood.

 

Nephrotic syndrome in childhood is one of the most common chronic kidney diseases in children. A Japanese research team led by Professor Kazumoto Iijima, associate professor Kandai Nozu and Tomoko Horinouchi, identified a group of genes that are closely linked to the development of the infantile nephrotic syndrome.

 

Also known as nephrosis, the infantile nephrotic syndrome is an incurable disease whose cause is unknown, which is characterized by large amounts of protein leaving the body in the patient’s urine and blood protein levels becoming extremely low.

 

Most patients develop a corticosteroid-responsive nephrotic syndrome that reacts with steroids and immunosuppressants and goes into remission, but at least 20% of the cases are resistant strains that occur repeatedly in adulthood.

 

Genetically-challenged individuals develop the syndrome when exposed to an immune stimulus such as infection.

 

The research team is conducting a genome-wide association study with the Japanica Array, which has screened 1,152 samples of patients with the infantile nephrotic syndrome and a control group of 2,807 healthy Japanese subjects.

 

“With this study, it is very likely that we can identify other sensitive genes,” says Professor Iijima. “In the future, we want to participate in international cooperation to confirm that the sensitive genes are the same for people around the world.”

 

The results of this study could elucidate the underlying mechanism of this disease. The full results appeared in the Journal of the American Society of Nephrology.

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