Nephrotic Syndrome (NS) is a common chronic disorder, characterized by alterations of the permeability of the glomerular capillary wall, resulting in its inability to restrict the urinary loss of protein.
INS ( also called nephrosis ) is defined by the combination of a nephrotic syndrome (proteinuria, hypoalbuminemia, hyperlipidemia, and edema) and non-specific histological abnormalities of the kidney including minimal changes (MC), focal and segmental glomerular sclerosis (FSGS), and diffuse mesangial proliferation.
As INS response to treatment with steroids varies. Several studies was done to analyze the correlation between steroid -related genes and the response to steroid treatment.The influence of polymorphisms on treatment response of children with INS was investigated. The results may be useful for predicting the treatment response of children with INS..
Nowadays it is clear that NR1I2 gene is also involved in regulation of intermediate metabolism through trans-activation and trans-repression of genes controlling glucose, lipid, cholesterol, bile acid, and bilirubin homeostasis. so it affects steroid drug metabolism and as a consequence the mutation of this gene may affect the response of NS children to treatment.
valuable information in prognosis and pathology of the disease types.