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Iranian Journal of Kidney Diseases، جلد ۳، شماره ۲، صفحات ۹۹-۰
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
NPHS2 Mutations in Children With Steroid-Resistant Nephrotic Syndrome |
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| چکیده انگلیسی مقاله |
Introduction. Congenital nephrotic syndrome may be caused by mutations in NPHS1 and NPHS2, which encode nephrin and podocin, respectively. Since the identification of the NPHS2 gene, various investigators have demonstrated that its mutation is an important cause of steroid-resistant nephrotic syndrome. We aimed to evaluate frequency and spectrum of podocin mutations in the Iranian children with steroid-resistant nephritic syndrome. Materials and Methods. We examined 20 children with steroid-resistant nephritic syndrome referred to Ali Asghar Children’s Hospital, in Tehran, Iran. Mutations in the 5th and 7th exons of NPHS2 were assessed. The mutational analysis of NPHS2 was performed by DNA sequencing. Results. The mean age at the onset of proteinuria was 6.4 ± 3.6 years. None of the children had mutations in the exons 5 or 7. Conclusions. Our study suggests that NPHS2 mutations in exons 5 and 7 are not seen in our children. Therefore, we cannot recommend NPHS2 (exons 5 and 7) mutation for screening in Iranian children with steroid-resistant nephritic syndrome. Other exons of podocin or other podocyte proteins in Iranian children may play a role in pathogenesis of steroid-resistant nephritic syndrome. |
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| کلیدواژه‌های انگلیسی مقاله |
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| نویسندگان مقاله |
حسن اتوکش | hasan otukesh
بهزاد غضنفری | behzad ghazanfari
سید محمد فرشته نژاد | seyed mohammad fereshtehnejad
معصومه بخشایش | masoomeh bakhshayesh
مهرداد هاشمی | mehrdad hashemi
رزیتا حسینی | rozita hoseini
مجید چالیان | majid chalian
آرزو سلامی | arezoo salami
لیلا مهدی پور | leila mehdipor
آیسان رحیمی نیا | aysan rahiminia
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| نشانی اینترنتی |
http://www.ijkd.org/index.php/ijkd/article/view/115 |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
ORIGINAL | Kidney Diseases |
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