A research group at Tohoku University, in collaboration with a research group at Boston Children's Hospital, succeeded in identifying a group of etiological genes for nephrotic syndrome that are responsive to steroid treatment.
Primary nephrotic syndrome, which is one of the intractable diseases designated by the government, is a disease in which a large amount of protein leaks into the urine, resulting in a decrease in protein in the blood and edema (swelling) throughout the body.It occurs most frequently in childhood chronic kidney disease.
Treatment with standard steroids is classified into steroid-sensitive nephrotic syndrome, which is highly effective, and steroid-resistant nephrotic syndrome, which is less effective.Of these, many pathogenic genes have been identified for steroid-resistant nephrotic syndrome, while the genetic factors remain largely unknown in steroid-sensitive nephrotic syndrome, which accounts for more than 8% of pediatric nephrotic syndrome.
In this study, we focused on a very rare family with steroid-sensitive nephrotic syndrome in the same family and analyzed the genomes of patients.By combining this result with the results of genome analysis of a nephrotic syndrome family with an overseas consanguineous marriage, we succeeded in identifying a novel cause gene cluster consisting of 6 genes.
The six novel etiological genes identified are all factors in the same signaling pathway involving steroids and provide important insights into why steroids work for nephrotic syndrome.By targeting the identified signal transduction pathways as therapeutic targets, it is expected that the development of new therapies with few side effects will be promoted as an alternative to steroid therapy, which has the problem of long-term side effects.
Paper information:[Nature communications] Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
