Table 1.
Age related presentations of cystic fibrosis
| Age group | Common presentations | Less common presentations |
|---|---|---|
| Antenatal | Chorionic villous sampling or amniocentesis in high risk family; echogenic bowel on ultrasound | Perforated meconium ileus |
| Neonatal | Diagnosis made on newborn screening; meconium ileus (10% of patients with cystic fibrosis) causing bowel obstruction with or without perforation and peritonitis | Gut atresias; obstructive jaundice; fat soluble vitamin deficiencies (bleeding disorder, vitamin K; haemolytic anaemia, vitamin E; raised intracranial pressure, vitamin A) |
| Infants and young children | Recurrent respiratory symptoms (cough, wheeze, pneumonias); failure to thrive (exocrine pancreatic insufficiency present in 85-90% of cases leads to steatorrhoea, diarrhoea, and abdominal distension) | Rectal prolapse; dehydration and electrolyte disturbance (pseudo-Bartter’s syndrome); anaemia, oedema, and hypoprotenaemia |
| Older children and adults | Recurrent respiratory symptoms as above (may be labelled asthmatic) with or without finger clubbing (fig 2); nasal polyps or sinusitis; male infertility (congenital bilateral absence of the vas deferens) | Acute pancreatitis; liver disease; malabsorption; dehydration and electrolyte disturbance (pseudo-Bartter’s syndrome); pulmonary infection with atypical mycobacteria |