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Iranian Journal of Kidney Diseases، جلد ۱۲، شماره ۴، صفحات ۲۴۰-۰
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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 |
Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families |
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| چکیده انگلیسی مقاله |
Nephronophthisis is an autosomal recessive cystic kidney disease characterized by tubular interstitial infiltration, periglomerular fibrosis, and cysts, and is the most frequent genetic cause of end-stage renal disease in children. Nephronophthisis is pleiotropic as almost all the causative genes are involved in primary cilium and centrosome function which are found in almost all human cells. Genetic heterogeneity in nephronophthisis makes the molecular and genetic diagnosis somewhat difficult. Homozygous deletions in the nephronophthisis 1 ( NPHP1 ) gene are the major contributor of nephronophthisis cases, while other genes accounts for less than 3% each. Nephronophthisis-related ciliopathy is a term used for extrarenal symptoms in addition to nephronophthisis. Herein, we are reporting the molecular study of 7 children from independent families fulfilling the criteria of nephronophthisis. A deletion analysis of the NPHP1 gene was performed in each case, and NPHP5 mutation screening was performed in the absence of such deletion in patients with Senior Loken syndrome. |
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| کلیدواژه‌های انگلیسی مقاله |
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| نویسندگان مقاله |
| Sofia Hussain
| Naureen Akhtar
| Reem Qamar
| Naima Khan
| Muhammad Naeem
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| نشانی اینترنتی |
http://ijkd.org/index.php/ijkd/article/view/3804 |
| 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 |
BRIEF COMMUNICATION | Kidney diseases |
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