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Title

R229Q POLYMORPHISM OF NPHS2 GENE IN PATIENTS WITH LATE-ONSET STEROID-RESISTANCE NEPHROTIC SYNDROME A PRELIMINARY STUDY

Author(s)

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Pages

  399-403

Abstract

 Introduction: 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.Materials and Methods: All participants had the primary late-onset form of FOCAL SEGMENTAL 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.Results: 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.Conclusions:  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.

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    APA: Copy

    . (2013). R229Q POLYMORPHISM OF NPHS2 GENE IN PATIENTS WITH LATE-ONSET STEROID-RESISTANCE NEPHROTIC SYNDROME A PRELIMINARY STUDY. IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD), 7(5), 399-403. SID. https://sid.ir/paper/309441/en

    Vancouver: Copy

    . R229Q POLYMORPHISM OF NPHS2 GENE IN PATIENTS WITH LATE-ONSET STEROID-RESISTANCE NEPHROTIC SYNDROME A PRELIMINARY STUDY. IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD)[Internet]. 2013;7(5):399-403. Available from: https://sid.ir/paper/309441/en

    IEEE: Copy

    , “R229Q POLYMORPHISM OF NPHS2 GENE IN PATIENTS WITH LATE-ONSET STEROID-RESISTANCE NEPHROTIC SYNDROME A PRELIMINARY STUDY,” IRANIAN JOURNAL OF KIDNEY DISEASES (IJKD), vol. 7, no. 5, pp. 399–403, 2013, [Online]. Available: https://sid.ir/paper/309441/en

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