Chest pain, clubbing, offensive stool (14/1700)

A 5yo with recurrent chest pain, finger clubbing with offensive stool. Choose the
single most likely inv?
a. Endomysial/Alpha gliadin antibody
b. Sweat test
c. Barium meal
d. ECG
e. Glucose tolerance test



















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answerB
nb.  anti-gliadin (AGA) and anti-endomysium (EMA) and anti-tTG are for celiac disease


Cystic fibrosis

Etiology
• 1 per 3,000 live births, mostly Caucasians
• autosomal recessive, CFTR gene found on chromosome 7 (ΔF508 mutation in 70%, but >1,600
different mutations identified) resulting in a dysfunctional chloride channel on the apical
membrane of cells
• leads to relative dehydration of airway secretions, resulting in impaired mucociliary transport
and airway obstruction

Clinical Presentation
• neonatal: meconium ileus, prolonged jaundice, antenatal bowel perforation
• infancy: pancreatic insufficiency with steatorrhea and FTT (despite voracious appetite), anemia,
hypoproteinemia, hyponatremia
• childhood: heat intolerance, wheezing or chronic cough, recurrent chest infections (S. aureus,
P. aeruginosa, H. influenzae), hemoptysis, nasal polyps, distal intestinal obstruction syndrome,
rectal prolapse, clubbing of fingers
• older patients: COPD, infertility (males), decreased fertility (female)

Investigations
• sweat chloride test x 2 (>60 mEq/L)
ƒfalse positive tests: malnutrition, atopic dermatitis, hypothyroidism, hypoparathyroidism, GSD,
adrenal insufficiency, G6PD, Klinefelter syndrome, technical issues, autonomic dysfunction,
familial cholestasis syndrome
ƒfalse negative tests: technical problem with test, malnutrition, skin edema, mineralocorticoids

Management
• nutritional counseling: high calorie diet, pancreatic enzyme replacements, fat soluble vitamin
supplements
• management of chest disease: physiotherapy, postural drainage, exercise, bronchodilators,
aerosolized DNAase and inhaled hypertonic saline, antibiotics (e.g. cephalosporin, cloxacillin,
ciprofloxacin, inhaled tobramycin depending on sputum C&S), lung transplantation
• genetic counseling

Complications
• respiratory failure, pneumothorax (poor prognostic sign), cor pulmonale (late), pancreatic
fibrosis with DM, gallstones, cirrhosis with portal HTN, infertility (male)
• early death