Complications

Meconium ileus: failure to pass the first stool in neonates (meconium usually passes within the first 24–48 hours after birth)

• Etiology: Cystic fibrosis is the cause in > 90% of cases.

• Clinical findings: signs of a distal small bowel obstruction (thick meconium plugs the distal ileum)

  • Bilious vomiting

  • Abdominal distention

  • No passing of meconium or stool

• Diagnostics

  • X-ray abdomen (with contrast agent)

    • Dilated small bowel loops

    • Microcolon: narrow caliber of the colon, as it is still unused (meconium has not been passed through yet)

    • Neuhauser sign (soap bubble appearance): a mottled or bubble-like appearance in the distal ileum and/or cecum as a result of meconium mixing with swallowed air [39]

    • Air-fluid levels are uncommon because of the viscous consistency of meconium.

• Treatment

  • Enema with a contrast agent

  • Surgery is required in complicated cases (e.g., intestinal perforation, volvulus)

Small bowel obstruction: can also occur in older children and adults

Distal intestinal obstruction syndrome (DIOS) : blockage of the small intestines by thickened stool in the distal ileum and right colon

• Highest prevalence in the second and third decades of life

• Tends to occur in individuals with pancreatic insufficiency

• Clinical manifestations include abdominal pain and distention, a palpable cecal mass, and flatulence.

Allergic bronchopulmonary aspergillosis (ABPA): ∼ 10% of individuals with CF develop this condition. [41][42]

Pulmonary emphysema

• Pneumothorax

• Cor pulmonale

Median life expectancy: 39 years

Individuals with CF who have pancreatic sufficiency tend to present with mainly pulmonary symptoms in late childhood/early adulthood and generally have a milder course of disease

The main determinant of life expectancy is the severity of pulmonary disease: chronic respiratory infections and mucus plugging → bronchiectasis (irreversible) → progressive respiratory failure → death

Annual influenza vaccine for all affected individuals > 6 months with inactivated influenza vaccine

Pneumococcal vaccine (see ”Immunization schedule”)

Palivizumab: antibody against respiratory syncytial virus (RSV) for infants < 24 months

Long-term treatment with azithromycin may be used to prevent recurrent pulmonary infections.