New research provides insights into the genetics underlying a debilitating kidney disease in children.These remarkable findings which were published in the Journal of American society of Nephrology (JASN) ,attract specialists’ attention in that particular field.
RADOIR International – Nephrotic syndrome (NS) is known as a rare disease , with an incidence of 2–7 patients per 100,000 children, it is the most common glomerular disorder of childhood, and it causes failure of the kidney’s filtration barrier to retain protein in the bloodstream. Steroids are the medications used to cure these patients & to prevent their progression to kidney failure, but these methods have significant side effects .
A team led by Pierre Ronco, MD, PhD (INSERM, Sorbonne University and Assistance Publique-Hôpitaux de Paris, in France) analyzed the genomes of nearly 400 children with this condition . Their essential goal was to discover genetic variants associated with increased risk of pediatric NS.
The team discovered that genetic variants in 3 regions within the human leukocyte antigen (HLA) region of the genome were associated with pediatric NS in Europe. Analyses of North American children with NS of diverse microscopic forms conducted by Matthew G. Sampson, MD, MSCE showed that these variants are associated with a significantly increased likelihood of experiencing complete remission .It is remarkable that all risk variants that we have identified are associated with other immune-mediated diseases, which strongly support underlying immune dysregulation in NS.