R229Q Polymorphism of NPHS2 Gene in Patients With Late-Onset Steroid-Resistance Nephrotic Syndrome: a Preliminary Study

Depending on the response to standard steroid therapy، nephrotic syndrome it is classified to steroid-sensitive and steroid-resistant nephrotic syndrome (SRNS). Mutations in several genes including NPHS2 have been implicated in SRNS. Gene R229Q polymorphism (p. R229Q) of NPHS2 is associated with adolescent- or adult-onset SRNS in European and South American populations. We investigated this polymorphism among a group of Iranian-Azeri patients with primary SRNS. All participants had the primary late-onset form of focalsegmental glomerulosclerosis (FSGS) and their clinical feature was steroid unresponsiveness. They were compared with a group of age- and sex-matched individuals without any renal disease for NPHS2 gene as controls. The R229Q polymorphism (p. R229Q) was investigated in the case and control groups. A total of 25 patients (mean age، 26. 6 ± 8. 0 years) with primary FSGS and 35 controls (mean age، 26. 0 ± 8. 7 years) were studied. Serum creatinine of patients and their 24-hour protein excretion at the time of study were 2. 4 ± 1. 94 mg/dL and 2830 ± 981 mg/dL، respectively. Molecular study showed no p. R229Q polymorphism، neither in patients nor in controls. In this preliminary study، we showed that NPHS2 gene p. R229Q polymorphism does not present in Iranian-Azeri population with SRNS. Larger studies are needed to confirm our results and other mutated genes should also be considered in these patients.