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Aurora magazine

Discover the genetic causes of the nephrotic syndrome

Thanks to an international research that has also involved the Bambino Gesù Pediatric Hospital, the causes of the nephrotic syndrome are known. Kidney disease mainly affects children and is very debilitating. However, the discovery could facilitate the diagnosis and processing of new treatments.

The researchers analyzed the DNA of pediatric patients from two continents. They have thus identified some genetic anomalies that predispose to the so-called cortico-sensitive nephrotic syndrome of the child. The discovery is of great importance, since until now the causes of the disease were almost completely unknown. Also for this reason, the available treatments are not specific and have great side effects.

Leading the international team was Dr Pierre Ronco from the La Sorbonne University in Paris. Scientists collected samples taken from almost 400 French, Spanish and Italian children. To these were added 100 US samples.

Analysis of DNA samples revealed a number of variants located near the human leukocyte antigen (HLA). This is the system responsible for regulating the immune system. The anomalies placed here seem to predispose to the development of the disease. Depending on the type of anomaly, the form of pediatric nephrotic syndrome also changes.

The discovery will improve the diagnosis of different forms of the disease, helping to identify those with a better prognosis. He also reinforced an existing hypothesis, which wanted the cause of the disease linked to a poor regulation of the immune system.