Abstract：
:Comprehensive newborn screening for cystic fibrosis has occurred for more than 25 years in some regions and the results of randomised controlled trials reporting the outcomes have been published. Testing protocols for CF have recently been reviewed and the sensitivity and specificity of these protocols are high. In spite of this, many remain sceptical in respect of the advantages conferred by newborn screening for CF. Every study of newborn screening has shown that diagnosis occurs at a significantly younger age. While this alone is sufficient to justify newborn screening, the clinical course of those diagnosed via newborn screening indicates that many additional advantages accrue. These include a decreased morbidity and mortality in early life, facilitation of better growth and prevention of vitamin deficiency in early infancy, as well as some indication of an advantage in terms of pulmonary status later in life. This review summarises the arguments in favour of newborn screening for CF.
journal_name
Paediatr Respir Revjournal_title
Paediatric respiratory reviewsauthors
McKay K,Wilcken Bdoi
10.1016/j.prrv.2008.09.004subject
Has Abstractpub_date
2008-12-01 00:00:00pages
290-4issue
4eissn
1526-0542issn
1526-0550pii
S1526-0542(08)00059-6journal_volume
9pub_type
杂志文章,评审abstract：:Cardiac abnormalities occur in association with many of the neuromuscular disorders that present in childhood. Genetic defects involving the cytoskeleton, nuclear membrane, and mitochondrial function have all been described in patients with skeletal myopathy and cardiac involvement. The most common classes of neuromus...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：10.1016/j.prrv.2009.10.004
更新日期：2010-03-01 00:00:00
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journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
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journal_title：Paediatric respiratory reviews
pub_type： 杂志文章
doi：10.1016/j.prrv.2018.03.005
更新日期：2018-09-01 00:00:00
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journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
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journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
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journal_title：Paediatric respiratory reviews
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journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
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journal_title：Paediatric respiratory reviews
pub_type： 杂志文章
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journal_title：Paediatric respiratory reviews
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journal_title：Paediatric respiratory reviews
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pub_type： 杂志文章,评审
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journal_title：Paediatric respiratory reviews
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journal_title：Paediatric respiratory reviews
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更新日期：2007-03-01 00:00:00
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journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
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更新日期：2002-09-01 00:00:00
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journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
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pub_type： 评论,杂志文章,评审
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journal_title：Paediatric respiratory reviews
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journal_title：Paediatric respiratory reviews
pub_type： 杂志文章,评审
doi：
更新日期：2003-09-01 00:00:00
abstract：:Renal disease is relatively rare in cystic fibrosis even though the cystic fibrosis transmembrane regulator (CFTR) protein is expressed in abundance in the kidney. Aberrant CFTR expression probably explains the subtle abnormalities in renal concentrating and diluting ability described in cystic fibrosis and possibly t...
journal_title：Paediatric respiratory reviews
pub_type： 杂志文章
doi：
更新日期：2002-06-01 00:00:00
