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CYSTIC FIBROSIS (CF)

CYSTIC FIBROSIS (CF)
CYSTIC FIBROSIS; CYSTIC FIBROSIS
219700
OMIM = Online Mendelian Inheritance of Men
586
cystic fibrosis transmembrane conductance regulator (CFTR)
3.6.3.49
1q23.3, 7q31.2, 19q13.2
E84.0/1/8/9
rare (1:5000)
autosomal recessive
mutation in the cystic fibrosis conductance regulator gene
Laboratory findings    Calcium inc (urine)
    Chloride inc (sweat)
    Immunreactive trypsinogen [+] inc (serum, blood spots)
    Sodium inc (sweat)
    Vitamin A dec (serum)
    Vitamin D dec (serum)
    Vitamin H dec (serum)
Symptoms   cor pulmonale
   nasal polyposis
   rectal prolaps
    amyloidosis
    anosmia
    bronchiectasia
    cirrhosis or fibrosis of liver
    diabetes mellitus
    DNA
    failure to thrive
    gallstones, cholelithiasis
    Glucose tolerance, impaired
    growth retardation, poor growth
    ileus
    infections (severe or recurrent)
    jaundice
    liver failure
    obstructive airway disease
    onset, adolescent
    onset, adulthood
    onset, childhood
    onset, infancy
    onset, neonatal
    osteoporosis
    pancreatic insufficiency
    pneumonia
    pseudotumor cerebri
    pulmonary hypertension
    respiratory insufficiency