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

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