Literature DB >> 22866385

Cystic fibrosis infant care challenges in diagnosis and management in the era of newborn screening.

Raj Padman1, Kristina Flathers, Vandna Passi.   

Abstract

With newborn screening for cystic fibrosis (CF) now accessible in every state in the US, more infants are being diagnosed. Currently, no large-scale randomized studies are available to assist clinicians in providing evidence-based medical care for the youngest CF patients. We review the standard of diagnostic evaluation, the sweat test, showing a slightly altered range for infants less than 6 months of age. Cystic fibrosis transmembrane conductance regulator (CFTR) metabolic syndrome is an entity that can be clinically challenging for parents and caregivers. Simply indentifying infants with CF can be challenging. This review tries to clarify the CFTR gene and its expressions and the additional benefits that may be drawn from newborn screening. We searched literature to review guidelines for care of infants with CF, and we reviewed newborn screening methods and diagnosis. We focused on early nutritional intervention and lung protective strategies to improve growth and lung function outcomes.

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Year:  2012        PMID: 22866385

Source DB:  PubMed          Journal:  Del Med J        ISSN: 0011-7781


  1 in total

1.  First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis.

Authors:  Abbas Sahami; Nourkhoda Sadeghifard; Alireza Monsef; Hadi Peyman
Journal:  Indian J Hum Genet       Date:  2014-04
  1 in total

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