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

or

A history of cystic fibrosis in a sibling

or

A positive newborn screening test

PLUS

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

or

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

or

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

Gastrointestinal

  • 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

Genitourinary

  • Congenital bilateral absence of the vas deferens (CBAVD)

  • Male infertility

  • Female infertility

Other

  • Hypochloremic, hyponatremic alkalosis

  • Mother of child with cystic fibrosis

  • Pseudotumor cerebri

 

 

References:

  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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