Published online September 1, 2006
PEDIATRICS Vol. 118 No. 3 September 2006, pp. 1260-1265 (doi:10.1542/10.1542/peds.2006-0399)

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EXPERIENCE & REASON

Early Pulmonary Manifestation of Cystic Fibrosis in Children With the F508/R117H-7T Genotype

Brian P. O’Sullivan, MD^a, Robert G. Zwerdling, MD^a, Henry L. Dorkin, MD^b,c, Anne Marie Comeau, PhD^a,d and Richard Parad, MD^c,d,e

^a Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts
^b Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts
^d New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, Massachusetts
^e Department of Newborn Medicine, Brigham and Women’s Hospital and Children’s Hospital, Boston, Massachusetts
^c Department of Pediatrics, Harvard Medical School, Boston, Massachusetts

ABSTRACT

We report 3 cystic fibrosis newborn screen–positive infants with the F508/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.

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Key Words: cystic fibrosis • pulmonary • newborn screening • gene mutation • R117H

Abbreviations: CF, cystic fibrosis • IRT, immunoreactive trypsinogen • CFTR, cystic fibrosis transmembrane conductance regulator • nT, n-thymidine sequence • CBAVD, congenital bilateral absence of the vas deferens

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Accepted May 3, 2006.

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				C. L. Ren Pulmonary Manifestations in {Delta}F508/R117H Pediatrics, March 1, 2007; 119(3): 647 - 647. [Full Text] [PDF]

				B. P. O'Sullivan, A. M. Comeau, and R. Parad Pulmonary Manifestations in {Delta}F508/R117H: In Reply Pediatrics, March 1, 2007; 119(3): 647a - 648. [Full Text] [PDF]