Association of endothelin receptor type A rs5333 gene polymorphism with steroid response in Egyptian children with idiopathic nephrotic syndrome.

AIM: To investigate ENDRA rs5333 gene polymorphism distribution in idiopathic nephrotic syndrome (INS) and to analyze their association with response to steroid therapy, and biochemical markers of INS.

SUBJECTS & METHODS: The PCR-restriction fragment length polymorphism was used to analyze ENDRA rs5333 polymorphism in 100 children with idiopathic nephrotic syndrom (INS) and 100 healthy children. Plasma endothelin-1 were measured by ELISA.

RESULTS: The ENDRA rs5333 gene polymorphism was not associated with risk of INS. The frequency of minor allele (C) was significantly higher in the steroid resistant nephrotic syndrome group than the steroid sensitive group. The CC and TC mutant variants were associated with higher plasma levels of cholesterol, albumin, urea and 24-h urinary protein, but were not associated with risk of hypertension. The endothelin-1 plasma level was higher in INS than control and in steroid resistant nephrotic syndrome group when compared with steroid sensitive group cases.

CONCLUSION: The ENDRA rs5333 gene polymorphism may be associated with genetic predisposition to steroid resistance in INS Egyptian children.