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Atypical cystic fibrosis--diagnostic and management dilemmas.

作者信息

Wallis Colin

机构信息

Respiratory Unit, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK.

出版信息

J R Soc Med. 2003;96 Suppl 43(Suppl 43):2-10.

PMID:12906319
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1308781/
Abstract
摘要

相似文献

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Atypical cystic fibrosis--diagnostic and management dilemmas.非典型囊性纤维化——诊断与管理困境
J R Soc Med. 2003;96 Suppl 43(Suppl 43):2-10.
2
[Male infertility caused by bilateral agenesis of the vas deferens: a new clinical form of cystic fibrosis?].双侧输精管缺如所致男性不育：囊性纤维化的一种新临床类型？
Rev Med Interne. 1997;18(2):114-8. doi: 10.1016/s0248-8663(97)84676-0.
3
p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).p.Leu636Pro突变与囊性纤维化跨膜传导调节因子相关疾病（先天性双侧输精管缺如）有关。
Int J Urol. 2015 Aug;22(8):803-4. doi: 10.1111/iju.12801. Epub 2015 May 5.
4
CFTR gene variant for patients with congenital absence of vas deferens.先天性输精管缺如患者的CFTR基因变异体
Am J Hum Genet. 1995 Oct;57(4):958-60.
5
Molecular screening of CFTR gene in Brazilian men with bilateral agenesis of the vas deferens.对巴西双侧输精管缺如男性进行囊性纤维化跨膜传导调节因子（CFTR）基因的分子筛查。
Hum Fertil (Camb). 2006 Mar;9(1):53-6. doi: 10.1080/14647270500440598.
6
Editorial Comment to p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).对p.Leu636Pro突变与囊性纤维化跨膜传导调节因子相关疾病（先天性双侧输精管缺如）的编辑评论
Int J Urol. 2015 Aug;22(8):804. doi: 10.1111/iju.12823. Epub 2015 May 25.
7
Congenital absence of vas deferens and cystic fibrosis.先天性输精管缺如与囊性纤维化。
Minerva Pediatr. 2003 Feb;55(1):43-7, 47-50.
8
Asymptomatic cystic fibrosis diagnosed in an adult evaluated for hematuria.在一名因血尿接受评估的成年人中诊断出无症状性囊性纤维化。
Am J Kidney Dis. 2002 Jan;39(1):E3. doi: 10.1053/ajkd.2002.29924.
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Cystic fibrosis and formes frustes of CFTR-related disease.囊性纤维化及CFTR相关疾病的顿挫型
Respiration. 2007;74(3):241-51. doi: 10.1159/000102068.
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Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.一对夫妇接受卵胞浆内单精子注射的结果，该男性为囊性纤维化跨膜传导调节因子（CFTR）基因p.[R74W;V201M;D1270N]和p.P841R突变携带者，其配偶为CFTR基因p.F508del突变的杂合子携带者
Fertil Steril. 2008 Nov;90(5):2004.e23-6. doi: 10.1016/j.fertnstert.2008.05.057. Epub 2008 Aug 13.

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Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.罕见的 CFTR 突变涉及不同的细胞内滞留机制，需要不同的挽救策略。
Int J Mol Sci. 2021 Dec 21;23(1):24. doi: 10.3390/ijms23010024.
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Rectal forceps biopsy procedure in cystic fibrosis: technical aspects and patients perspective for clinical trials feasibility.直肠活检钳在囊性纤维化中的应用：临床试验可行性的技术方面和患者观点。
BMC Gastroenterol. 2013 May 20;13:91. doi: 10.1186/1471-230X-13-91.
3
Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis.疑似患有轻度或非典型囊性纤维化患者中囊性纤维化跨膜电导调节因子基因的分子分析的诊断贡献。
J Bras Pneumol. 2013 Mar-Apr;39(2):181-9. doi: 10.1590/s1806-37132013000200009.
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Hoping to live a "normal" life whilst living with unpredictable health and fear of death: impact of cystic fibrosis on young adults.在健康状况不可预测且恐惧死亡的情况下，仍希望过上“正常”生活：囊性纤维化对年轻人的影响。
J Genet Couns. 2013 Jun;22(3):374-83. doi: 10.1007/s10897-012-9555-1. Epub 2012 Dec 14.
5
Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis.一种新型上皮钠离子通道突变导致 1 型假性醛固酮减少症，该患者曾被误诊为囊性纤维化。
Eur J Pediatr. 2012 Jun;171(6):997-1000. doi: 10.1007/s00431-012-1697-5. Epub 2012 Feb 28.
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Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency.囊性纤维化 p.F508del 复合杂合突变可预测汗液氯化物水平和胰腺功能。
Clin Genet. 2012 Dec;82(6):546-51. doi: 10.1111/j.1399-0004.2011.01804.x. Epub 2011 Nov 29.
7
Prevalence of rhinosinusitis among atypical cystic fibrosis patients.非典型囊性纤维化患者中鼻窦炎的患病率。
Eur Arch Otorhinolaryngol. 2011 Apr;268(4):519-24. doi: 10.1007/s00405-010-1382-0. Epub 2010 Sep 15.
8
Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.具有“非典型”囊性纤维化特征患者的表型和基因特征分析
J Pediatr. 2005 May;146(5):675-80. doi: 10.1016/j.jpeds.2004.12.020.

本文引用的文献

1
What is cystic fibrosis?什么是囊性纤维化？
N Engl J Med. 2002 Aug 8;347(6):439-42. doi: 10.1056/NEJMe020070.
2
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.无CFTR基因突变时的囊性纤维化变异表型。
N Engl J Med. 2002 Aug 8;347(6):401-7. doi: 10.1056/NEJMoa011899.
3
Phenotype of CF and the effects of possible modifier genes.囊性纤维化的表型及可能的修饰基因的作用。
Paediatr Respir Rev. 2001 Dec;2(4):332-9. doi: 10.1053/prrv.2001.0168.
4
Cystic fibrosis diagnosis: new dilemmas for an old disorder.囊性纤维化的诊断：一种古老疾病面临的新困境
Pediatr Pulmonol. 2002 Feb;33(2):83-4. doi: 10.1002/ppul.10053.
5
Airway function in infants newly diagnosed with cystic fibrosis.新诊断为囊性纤维化的婴儿的气道功能
Lancet. 2001 Dec 8;358(9297):1964-5. doi: 10.1016/s0140-6736(01)06970-7.
6
Acceleration of lung disease in children with cystic fibrosis after Pseudomonas aeruginosa acquisition.铜绿假单胞菌感染后囊性纤维化患儿肺部疾病的加速进展
Pediatr Pulmonol. 2001 Oct;32(4):277-87. doi: 10.1002/ppul.2009.abs.
7
Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics.具有不同表型特征的ΔF508纯合囊性纤维化双胞胎和同胞对的类别。
Twin Res. 2000 Dec;3(4):277-93. doi: 10.1375/136905200320565256.
8
Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).卡塔尔一个携带囊性纤维化突变（I1234V）的大家族中囊性纤维化表型的异质性。
J Trop Pediatr. 2001 Apr;47(2):110-2. doi: 10.1093/tropej/47.2.110.
9
Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study.囊性纤维化跨膜传导调节因子基因中S1235R突变的频率及临床意义：一项合作研究的结果
Am J Med Genet. 2000 Dec 11;95(4):361-5.
10
Time to think again: cystic fibrosis is not an "all or none" disease.是时候重新思考了：囊性纤维化并非一种“全有或全无”的疾病。
Pediatr Pulmonol. 2000 Aug;30(2):139-44. doi: 10.1002/1099-0496(200008)30:2<139::aid-ppul9>3.0.co;2-h.