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Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report

机译：纯合患者罕见CFTR突变的囊性纤维化的罕见临床表现：病例报告

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摘要

Signs and symptoms of CF (bolded – present in the reported patient)

机译：CF的体征和症状（出现肿块–在报告的患者中存在）

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期刊名称 BMC Pediatrics
作者
Joanna Jaworska; Aleksandra Marach-Mocarska; Dorota Sands;
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作者单位

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年(卷),期 2020(20),-1
年度 2020
页码 -1
总页数 6
原文格式 PDF
正文语种
中图分类儿科学;
关键词
Cystic fibrosis; CF; Metabolic acidosis; Case report; Genetic testing;

机译：囊性纤维化;CF;代谢性酸中毒;病例报告;基因检测;

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专利

1. Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report [J] . Joanna Jaworska, Aleksandra Marach-Mocarska, Dorota Sands BMC Pediatrics . 2020,第1期

机译：罕见CFTR突变患者患者患者囊性纤维化的临床介绍：案例报告
2. Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G>A [J] . NikolicA., RadlovicN., DinicJ., Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society . 2014,第1期

机译：一名纯合性CFTR突变的塞尔维亚患者c.1393-1G> A的轻度囊性纤维化的临床表现
3. Efficacy and Safety of CFTR Corrector and Potentiator Combination Therapy in Patients with Cystic Fibrosis for the F508del-CFTR Homozygous Mutation: A Systematic Review and Meta-analysis [J] . Wu Hong-xia, Zhu Min, Xiong Xiao-feng, Advances in therapy. . 2019,第2期

机译：CFTR校正器和增强剂组合治疗患者F508DEL-CFTR纯合突变患者的疗效和安全性：系统评价和荟萃分析
4. Allosteric Conformational Destabilization of CFTR Nucleotide Binding Domain 1 (NBD1) by the Cystic Fibrosis Mutation ΔF508 [C] . Naoto Soya, Ariel Roldan, Miklos Bagdany, ASMS Conference on Mass Spectrometry and Allied Topics . 2014

机译：CFTR核苷酸结合结构域1（NBD1）对囊性纤维化突变的变构构象稳定化Δf508
5. CFTR-associated ligand (CAL)-dependent post-Golgi trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) is modulated by insulin-like growth factor 1 (IGF-1). [D] . Lee, Ha Won. 2012

机译：囊性纤维化跨膜电导调节剂（CFTR）的CFTR相关配体（CAL）依赖性高尔基体运输受到胰岛素样生长因子1（IGF-1）的调节。
6. Thirteen cystic fibrosis patients 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation. [O] . C Vazquez, G Antiñolo, T Casals, 1996

机译：13例囊性纤维化患者12例复合杂合子和1例纯合子的错义突变G85E：一种胰腺功能不全突变临床表现不一。
7. Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report [O] . Joanna Jaworska, Aleksandra Marach-Mocarska, Dorota Sands 2020

机译：罕见CFTR突变患者患者患者囊性纤维化的临床介绍：案例报告

Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report

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