The diagnosis of "classical" cystic fibrosis can be made based on specific criteria.
Criteria for Classical Cystic Fibrosis
One or more of the following
(1) typical pulmonary manifestations
(1a) thick mucinous secretions with chronic cough and chronic obstructive lung disease
(1b) recurrent and persistent infections, especially with Pseudomonas (often mucoid strain of Pseudomonas aeruginosa) or Staphylococcus
(2) typical gastrointestinal manifestations
(2a) pancreatic insufficiency associated with steatorrhea and failure to thrive
(2b) neonatal meconium ileus
(2c) rectal prolapse in children
(3) a history of cystic fibrosis in the immediate family
AND
One or both of the following:
(1) a sweat chloride concentration > 60 mEq/L
(2) pathologic CFTR mutations on both chromosomes
Problems in Diagnosis
nonclassical phenotype of cystic fibrosis
patients with a compatible clinical syndrome but normal sweat chloride
patients with persistently high sweat chloride level without explanation, without clinical features of cystic fibrosis and without a family history
Other conditions associated with elevated sweat chloride:
(1) adrenal insufficiency
(2) pseudohypoaldosteronism
(3) hypothyroidism
(4) hypoparathyroidism
(5) nephrogenic diabetes insipidus
(6) ectodermal dysplasia
(7) glycogen storage disease (type I)
(8) mucopolysaccharidoses
(9) fucosidosis
(10) malnutrition
(11) Mauriac's syndrome
(12) familial cholestatic syndrome
(13) pancreatitis
(14) prostaglandin E1 administration
(15) hypogammaglobulinemia
Specialty: Endocrinology, Clinical Laboratory, Pulmonology, Gastroenterology