• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Infantile Nephropathic Cystinosis: A Novel Mutation.婴儿型肾病性胱氨酸病：一种新的突变
Eurasian J Med. 2017 Jun;49(2):148-151. doi: 10.5152/eurasianjmed.2017.17039.
2
CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.CTNS mRNA 分子分析显示一例婴儿型胱氨酸贮积症患儿的新突变：病例报告。
BMC Nephrol. 2019 Oct 31;20(1):400. doi: 10.1186/s12882-019-1589-2.
3
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.对患有肾病型胱氨酸病的约旦家庭中CTNS基因的分子分析。
Nefrologia. 2015 Nov-Dec;35(6):547-53. doi: 10.1016/j.nefro.2015.09.009. Epub 2015 Nov 10.
4
CTNS mutations in patients with cystinosis.胱氨酸病患者的CTNS基因突变
Hum Mutat. 1999;14(6):454-8. doi: 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H.
5
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease.肾性胱氨酸病：一种全身性疾病的症状、治疗及展望
Front Pediatr. 2018 Mar 14;6:58. doi: 10.3389/fped.2018.00058. eCollection 2018.
6
Slow progression of renal failure in a child with infantile cystinosis.一名患有婴儿型胱氨酸病的儿童肾衰竭进展缓慢。
CEN Case Rep. 2018 May;7(1):153-157. doi: 10.1007/s13730-018-0316-3. Epub 2018 Feb 14.
7
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.一名患有肾病型胱氨酸病的印度男孩：病例报告及CTNS基因突变的分子分析
Genet Test Mol Biomarkers. 2009 Aug;13(4):435-8. doi: 10.1089/gtmb.2008.0156.
8
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.酷似巴特综合征的肾病性胱氨酸病：一种新突变
Iran J Kidney Dis. 2018 Jan;12(1):61-63.
9
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.胱氨酸病的表型严重程度因CTNS基因突变而异：对胱氨酸转运蛋白模型的预测影响。
Hum Mol Genet. 1999 Dec;8(13):2507-14. doi: 10.1093/hmg/8.13.2507.
10
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.突尼斯患婴儿型肾病性胱氨酸病儿童的临床和遗传特征
Pediatr Nephrol. 2023 Jan;38(1):119-129. doi: 10.1007/s00467-022-05525-1. Epub 2022 Apr 20.

引用本文的文献

1
Complex Phenotypes: Mechanisms Underlying Variation in Human Stature.复杂表型：人类身高变化的潜在机制。
Curr Osteoporos Rep. 2019 Oct;17(5):301-323. doi: 10.1007/s11914-019-00527-9.
2
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the Mutational Spectrum in the Middle East.一个导致CTNS功能丧失的57 kB基因组缺失促成了中东地区的突变谱。
Front Pediatr. 2019 Mar 21;7:89. doi: 10.3389/fped.2019.00089. eCollection 2019.

本文引用的文献

1
Genetic basis of cystinosis in Turkish patients: a single-center experience.土耳其胱氨酸病患者的遗传基础：单中心经验。
Pediatr Nephrol. 2012 Jan;27(1):115-21. doi: 10.1007/s00467-011-1942-6. Epub 2011 Jul 24.
2
Cystinosis: practical tools for diagnosis and treatment.胱氨酸病：诊断与治疗实用工具。
Pediatr Nephrol. 2011 Feb;26(2):205-15. doi: 10.1007/s00467-010-1627-6. Epub 2010 Aug 24.
3
Characterization of CTNS mutations in Arab patients with cystinosis.阿拉伯胱氨酸病患者CTNS基因突变的特征分析。
Ophthalmic Genet. 2009 Dec;30(4):185-9. doi: 10.3109/13816810903200953.
4
Cystinosis.胱氨酸病
N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552.
5
Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.胱氨酸病的表型严重程度因CTNS基因突变而异：对胱氨酸转运蛋白模型的预测影响。
Hum Mol Genet. 1999 Dec;8(13):2507-14. doi: 10.1093/hmg/8.13.2507.
6
Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.肾病性胱氨酸病中CTNS基因缺失的分子特征：基于PCR的检测方法的开发
Am J Hum Genet. 1999 Aug;65(2):353-9. doi: 10.1086/302509.

婴儿型肾病性胱氨酸病：一种新的突变

Infantile Nephropathic Cystinosis: A Novel Mutation.

作者信息

Doneray Hakan, Aldahmesh Mohammed, Yilmaz Gulsah, Cinici Emine, Orbak Zerrin

机构信息

Department of Pediatrics, Atatürk University School of Medicine, Erzurum, Turkey.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

出版信息

Eurasian J Med. 2017 Jun;49(2):148-151. doi: 10.5152/eurasianjmed.2017.17039.

DOI:10.5152/eurasianjmed.2017.17039
PMID:28638260
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5469843/
Abstract

Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosis. It is characterized by findings of Fanconi's syndrome within the first year of life. Here we report two patients with INC presenting with signs of Fanconi's syndrome and describe a novel mutation.

摘要

胱氨酸贮积症是一种罕见的常染色体隐性代谢紊乱疾病，其特征是溶酶体中胱氨酸蓄积，这是由该基因编码的载体介导转运蛋白缺陷所致。婴儿型肾病性胱氨酸贮积症（INC）是胱氨酸贮积症的主要并发症之一。其特征为在出生后第一年内出现范科尼综合征的表现。在此，我们报告两名出现范科尼综合征体征的INC患者，并描述一种新的突变。