Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype
UMass Chan Affiliations
Department of PediatricsDocument Type
Journal ArticlePublication Date
2006-09-05Keywords
Age of OnsetArginine
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Mutational Analysis
Female
Genotype
Histidine
Humans
Infant, Newborn
Lung Diseases
Male
Mutation, Missense
Neonatal Screening
Point Mutation
Pseudomonas Infections
Pseudomonas aeruginosa
Life Sciences
Medicine and Health Sciences
Metadata
Show full item recordAbstract
We report 3 cystic fibrosis newborn screen-positive infants with the DeltaF508/R117H-7T genotype who had Pseudomonas aeruginosa detected in oropharyngeal cultures early in life and a fourth who had pulmonary symptoms and Gram-negative growth on multiple oropharyngeal cultures. All 4 patients were followed prospectively from the time of genetic diagnosis. As many regions implement newborn screening for cystic fibrosis, there is concern regarding which mutations should be included in genetic panels used to make the cystic fibrosis diagnosis. Some have recommended that mutations not specifically associated with classic cystic fibrosis be excluded. Our cases highlight the importance of considering keeping so-called mild mutations on cystic fibrosis newborn screening panels and the need to follow children with these mutations closely.Source
Pediatrics. 2006 Sep;118(3):1260-5. Link to article on publisher's siteDOI
10.1542/peds.2006-0399Permanent Link to this Item
http://hdl.handle.net/20.500.14038/38889PubMed ID
16951024Related Resources
Link to Article in PubMedae974a485f413a2113503eed53cd6c53
10.1542/peds.2006-0399