277.0, Cystic fibrosis
Initial symptoms may include:
- meconium ileus
- salty sweat or sweat crystals on the skin
- poor weight gain
- smelly, greasy, bulky, and bright green stools (even in breast fed infants)
- diarrhea, constipation, or persistent abdominal pain
- rectal prolapse
- persistent coughing or wheezing
- thick phlegm and mucus
- recurrent lung and sinus infections
- nasal polyps
If not treated, patients may experience:
- malnutrition and poor growth
- electrolyte depletion
- pulmonary damage or bronchiectasis
- liver disease
- death in childhood
Sweat chloride testing is the gold standard for identifying children with CF. Stimulated by pilocarpine iontophoresis, sweat is collected on gauze and the amount of sweat and chloride is determined. Standard values vary by age group. Children with CF demonstrate high chloride levels in sweat because uptake of chloride into the sweat duct is impaired. If the test is equivocal, further testing is indicated and the child should be evaluated by a cystic fibrosis center. If the test is positive, the infant will receive an appointment in 72 hours (unless extenuating circumstances arise), with treatment started at that time.
Though uncommon, DNA testing may be falsely negative. If symptoms consistent with CF are present, despite a normal newborn screen result, sweat chloride testing should always be performed.
- Contact the family and work with the see all Newborn Screening Programs services providers (3) in our database to set up sweat chloride testing to confirm/exclude the diagnosis and genetic testing as indicated. Sweat testing should be performed by an experienced laboratory, such as those associated with CF Foundation-Accredited Care Centers (CF Foundation).
- If the sweat chloride testing is positive, follow-up will be initiated ASAP. Many patients will already have poor weight gain at the time a diagnosis is confirmed. Initiation of pancreatic enzyme supplementation as early as possible is vital to correcting nutritional deficiencies and preventing morbidity and mortality.
- For ongoing collaborative management or consultation with the CF Foundation-Accredited Care Centers (CF Foundation).
- Ongoing education of the family regarding:
- signs, symptoms, and the need for urgent care when the infant becomes ill
- the harmful effects of secondhand smoke
- hand washing to prevent infections
- the need for a high salt, high fat, high protein diet (aiming for 150-180% of RDA), and extra fluids
- the importance of Cystic Fibrosis Center management and follow up
- Assure completion of routine immunizations, to include the 23-valent pneumococcal vaccine and annual influenza vaccines
- Pancreatic enzymes and vitamin supplements may be indicated
- Bronchodilators, mucus thinners, antibiotics, and other medications may be indicated
ACT Sheet for Cystic Fibrosis (ACMG) ( 59 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.
Newborn Screening ACT Sheets & Confirmatory Algorithms (ACMG)
ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results, membership required; American College of Medical Genetics.
Cystic Fibrosis (OMIM)
Extensive review of literature that provides technical information on genetic disorders; Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University.
CFTR-Related Disorders (GeneReviews)
An expert-authored, peer-reviewed, current disease description that applies genetic testing to diagnosis and management information for disorders related to the CFTR gene.; National Center for Biotechnology Information, U.S. National Library of Medicine.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
CF Foundation Utah/Idaho
A parent driven and administered educational, support, and advocacy site for families of children with cystic fibrosis followed at the Intermountain CF Center.
Cystic Fibrosis Foundation
A nonprofit organization that offers extensive information about CF, including frequently asked questions; testing and treatments; research; scholarships for individuals with CF; understanding insurance options; and, a link to Cystic Fibrosis Services, which provides pharmacy services; links to local chapters; support services; and more.
Cystic Fibrosis (MedlinePlus)
An overview of the condition with links to other organizations providing more information; from the National Library of Medicine.
Cystic Fibrosis (Genetics Home Reference)
Detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference site.
Cystic Fibrosis Information (UDOH) ( 731 KB)
Information regarding testing for and early complications of CF; Newborn Screening Program, Utah Department of Health.
What Is Cystic Fibrosis? (NHLBI, NIH)
Information about cause, prevalence, signs and symptoms, diagnostic tests, treatments, and links to other organizations; National Heart Lung and Blood Institute and National Institutes of Health.
Cystic Fibrosis: Diet and Nutrition (KidsHealth.org)
Information for kids from a national site, sponsored by Nemours Foundation. Also provides pages for parents and teens (see tabs at the top of the page).
Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, Rock MJ, Farrell PM, Sontag MK, Rosenfeld M, Davis SD, Marshall
BC, Accurso FJ.
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
J Pediatr. 2009;155(6 Suppl):S106-16. PubMed abstract
Borowitz D, Robinson KA, Rosenfeld M, Davis SD, Sabadosa KA, Spear SL, Michel SH, Parad RB, White TB, Farrell PM, Marshall
BC, Accurso FJ.
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
J Pediatr. 2009;155(6 Suppl):S73-93. PubMed abstract
CF Fact Sheets (CF Foundation & Children's Hospital Boston)
Factsheets covering nutrition, tests, medications, schools, and more.
See all Newborn Screening Programs services providers (3) in our database.
See all Sweat Testing services providers (1) in our database.
For other services related to this condition, browse our Services categories or search our database.
Grosse SD, Boyle CA, Botkin JR, Comeau AM, Kharrazi M, Rosenfeld M, Wilfond BS.
Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs.
MMWR Recomm Rep. 2004;53(RR-13):1-36. PubMed abstract / Full Text
Castellani C, Southern KW, Brownlee K, Dankert Roelse J, Duff A, Farrell M, Mehta A, Munck A, Pollitt R, Sermet-Gaudelus I,
Wilcken B, Ballmann M, Corbetta C, de Monestrol I, Farrell P, Feilcke M, Férec C, Gartner S, Gaskin K, Hammermann J, Kashirskaya
N, Loeber G, Macek M Jr, Mehta G, Reiman A, Rizzotti P, Sammon A, Sands D, Smyth A, Sommerburg O, Torresani T, Travert G,
Vernooij A, Elborn S.
European best practice guidelines for cystic fibrosis neonatal screening.
J Cyst Fibros. 2009;. PubMed abstract
|Author:||Barbara Chatfield, MD - 6/2010|
|Content Last Updated:||7/2010|
Dawson KP, Frossard PM, Al-Awar B.
Disease severity associated with cystic fibrosis mutations deltaF508 and S549R(T-->G).
East Mediterr Health J. 2001;7(6):975-80. PubMed abstract
Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ,
Campbell PW 3rd.
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.
J Pediatr. 2008;153(2):S4-S14. PubMed abstract / Full Text
Genetics of cystic fibrosis.
Semin Respir Crit Care Med. 2003;24(6):629-38. PubMed abstract
Mickle JE, Cutting GR.
Genotype-phenotype relationships in cystic fibrosis.
Med Clin North Am. 2000;84(3):597-607. PubMed abstract
Schechter MS, Gutierrez HH.
Improving the quality of care for patients with cystic fibrosis.
Curr Opin Pediatr. 2010;22(3):296-301. PubMed abstract