Unifying Concepts

Diagnostic Criteria for Cystic Fibrosis (CF)

The diagnosis of cystic fibrosis is based on clinical signs and symptoms consistent with the disease and objective evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction.

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


  • 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



  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]

Created: March 24, 2006
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