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1391/10/18، جلد ۲۳، شماره ۱، صفحات -
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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 |
A Chinese Girl with Bartter Syndrome Type III Due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene |
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| چکیده انگلیسی مقاله |
Background: Barter’s syndrome is a heterogeneous disorder characterized by deficient renal reabsorption of sodium and chloride, and hypokalaemic metabolic alkalosis with hyper-reninaemia and hyperaldosteronaemia. Bartter syndrome type III (BS type III), due to mutations in the CLCNKB gene, is highly variable. The aim of our study was to describe the clinical presentation in a Chinese girl with BS type III and to explore mutations or SNPs of CLCNKB gene in her family. Case Presentation: The clinic data of the patient was collected. Mutations or SNPs was invesitaged by sequencing of the exon of CLCNKB gene. The clinic analysis confirmed the diagnosis of BS type III. The coexistence of 13 reported SNPs and 11 novel SNPs of CLCNKB gen were found in the patient and her parent. a novel heterozygous C to G transition at nucleotide 2471 in exon 20 of CLCNKB gene harbored uniquely by the patient were revealed. Conclusion: a novel heterozygous C to G mutation at nucleotide 2471 of CLCNKB gene and some new SNPs were identified in a Chinese girl with BS type III having persistent hypokalemia. The novel mutation and SNPs make the genetic background of the patient more complicated. Key Words: Bartter’s Syndrome Type III; Hypokalemia; Basolateral Chloride Channel; Mutation |
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| کلیدواژههای انگلیسی مقاله |
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| نویسندگان مقاله |
9931---9932---9933---9934---9935--- |
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| نشانی اینترنتی |
http://ijp.tums.ac.ir/index.php/ijp/article/viewArticle/1559 |
| 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 |
Case Report |
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