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