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早期诊断和治疗对囊性纤维化的影响:一项对16对同胞兄弟姐妹的七年研究。

The effect of early diagnosis and treatment in cystic fibrosis: a seven-year study of 16 sibling pairs.

作者信息

Orenstein D M, Boat T F, Stern R C, Tucker A S, Charnock E L, Matthews L W, Doershuk C F

出版信息

Am J Dis Child. 1977 Sep;131(9):973-5. doi: 10.1001/archpedi.1977.02120220039005.

DOI:10.1001/archpedi.1977.02120220039005
PMID:900085
Abstract

Data on 16 sibling pairs with cystic fibrosis were analyzed to test the hypothesis that early treatment of this condition improves prognosis. Younger siblings' conditions were diagnosed before 1 year of age, usually before the onset of pulmonary disease. Older siblings' conditions were diagnosed after 1 year of age and after the onset of pulmonary disease. Although the sibling pairs received similar treatment, comparison at 7 years of age showed that the younger siblings had significantly better chest roentgenogram scores, total clinical scores, residual lung volumes, and ratios of residual volume to total lung volume. Younger siblings also required fewer hospital admissions to control their lung disease. The results suggest that, in general, early initiation of therapy is beneficial for patients with cystic fibrosis.

摘要

对16对患有囊性纤维化的同胞进行了数据分析,以检验该病早期治疗可改善预后这一假设。年幼同胞的病情在1岁之前被诊断出来,通常是在肺部疾病发作之前。年长同胞的病情在1岁之后且在肺部疾病发作之后被诊断出来。尽管这些同胞对接受了相似的治疗,但7岁时的比较显示,年幼同胞在胸部X光片评分、总临床评分、残气量以及残气量与肺总量的比值方面明显更好。年幼同胞控制肺部疾病所需的住院次数也更少。结果表明,总体而言,早期开始治疗对囊性纤维化患者有益。

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The effect of early diagnosis and treatment in cystic fibrosis: a seven-year study of 16 sibling pairs.早期诊断和治疗对囊性纤维化的影响:一项对16对同胞兄弟姐妹的七年研究。
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引用本文的文献

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Factors associated with severe lung disease in an adult population with cystic fibrosis: a single-center experience.与成人囊性纤维化患者严重肺部疾病相关的因素:单中心经验。
Turk J Med Sci. 2020 Jun 23;50(4):945-952. doi: 10.3906/sag-1912-101.
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Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.对囊性纤维化患者的表型和结局进行全基因组测序的应用。
Cold Spring Harb Mol Case Stud. 2020 Feb 3;6(1). doi: 10.1101/mcs.a004531. Print 2020 Feb.
3
Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis.
新生儿筛查的价值体现:量化苯丙酮尿症和囊性纤维化早期检测的有效性及成本效益面临的挑战
Healthcare (Basel). 2015;3(4):1133-57. doi: 10.3390/healthcare3041133. Epub 2015 Nov 11.
4
With commentary.附有评论。
Arch Dis Child. 1982 Oct;57(10):779-80. doi: 10.1136/adc.57.10.779.
5
Newborn screening for cystic fibrosis.新生儿囊性纤维化筛查。
Clin Rev Allergy Immunol. 2008 Dec;35(3):107-15. doi: 10.1007/s12016-008-8082-1.
6
Genetic and clinical features of patients with cystic fibrosis diagnosed after the age of 16 years.16岁以后确诊的囊性纤维化患者的遗传和临床特征。
Thorax. 1995 Dec;50(12):1301-4. doi: 10.1136/thx.50.12.1301.
7
The impact of newborn screening on cystic fibrosis testing in Victoria, Australia.新生儿筛查对澳大利亚维多利亚州囊性纤维化检测的影响。
J Med Genet. 1995 Jul;32(7):537-42. doi: 10.1136/jmg.32.7.537.
8
Vitamin status in treated patients with cystic fibrosis.接受治疗的囊性纤维化患者的维生素状况。
Arch Dis Child. 1981 Sep;56(9):708-14. doi: 10.1136/adc.56.9.708.
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J Clin Pathol. 1981 Aug;34(8):911-3. doi: 10.1136/jcp.34.8.911.
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Sweat tests and flucloxacillin.汗液测试与氟氯西林。
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