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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

 

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)

More

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]

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

 
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