Home A-Z Index About Us Books Español
Sponsored Links

Sponsored Links


Diagnostic Criteria for Cystic Fibrosis (CF)

One or more typical phenotypic features of CF:

  • Chronic sinopulmonary disease

  • Characteristic gastrointestinal and nutritional abnormalities

  • Salt loss syndromes

  • Obstructive azoospermia



A history of cystic fibrosis in a sibling




A positive newborn screening test





An elevated sweat chloride concentration (greater than 60 meq/L) on two or more occasions




Identification of mutations in each cystic fibrosis transmembrane conductance regulator (CFTR) protein gene known to cause CF




In vivo demonstration of characteristic abnormalities in ion transport across the nasal epithelium


Clinical Manifestations of Cystic Fibrosis

  • Respiratory

  • Bronchiolitis / asthma

  • Psudomonas aeruginosa colonization of the respiratory tract

  • Staphylococcal pneumonia

  • Nasal polyposis

  • Sinusitis


  • Meconium ileus

  • Rectal prolapse

  • Recurrent abdominal pain and/or right lower quadrant mass

  • Hypoproteinemic edema

  • Prolonged neonatal jaundice

  • Biliary cirrhosis with portal hypertension

  • Vitamin deficiency states (A, D, E, K)

  • Acrodermatitis enterophatica-like eruption with fatty acid and zinc deficiency

  • Recurrent pancreatitis

  • Volvulus in fetal life


  • Congenital bilateral absence of the vas deferens (CBAVD)

  • Male infertility

  • Female infertility


  • Hypochloremic, hyponatremic alkalosis

  • Mother of child with cystic fibrosis

  • Pseudotumor cerebri


Related Criteria

Definition and Causes of Apparent Life-Threatening Events (ALTE)

Rochester Criteria for Identifying Febrile Infants at Low Risk for Serious Bacterial Infection

Causes of Bacteraemia and Meningitis in Young Children

Clinical and Laboratory "Low Risk" Criteria for Children Younger Than 3 Months with Fever and No Focus of Infection

Modified Bellīs Staging Criteria for Necrotizing Enterocolitis (NEC)



  1. Welsh MJ, Ramsey BW, Accurso FJ, Cutting GR. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:5121-88.

  2. Welsh MJ, Fick RB. Cystic fibrosis. J Clin Invest. 1987 Dec;80(6):1523-6. [Medline]

  3. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr. 1998 Apr;132(4):589-95. [Medline]

Sponsored Links


Created: March 24, 2006
Last Modified: 10/23/2010

MedicalCRITERIA.com © 2006 all rights reserved.                                                                     Contact Us.