The following are the major diseases or complications that may be contributed to by cystic fibrosis (CF):
Respiratory system (J00-J99)
- Progressive respiratory insufficiency (respiratory failure) with chronic cor pulmonale (pressure-loaded right heart).
- Allergic bronchopulmonary aspergillosis/Aspergillus bronchitis (mold infection) – about 30% of patients with cystic fibrosis have colonization of the lungs with the mold Aspergillus fumigatus; the resistance rate is about 9%.
- Chronic destruction (destruction) of the airways.
- Chronic pneumonia (pneumonia) (99%).
- Chronic rhinosinusitis (simultaneous inflammation of the nasal mucosa (“rhinitis”) and the mucosa of the paranasal sinuses (“sinusitis“); 61%).
- Bronchiectasis (synonym: bronchiectasis) – persistent irreversible saccular or cylindrical dilatation of the bronchi (medium-sized airways), which may be congenital or acquired; symptoms: chronic cough with “mouthful expectoration” (large-volume triple-layered sputum: foam, mucus, and pus), fatigue, weight loss, and decreased exercise capacity
- Bronchiolitis – inflammation of the small branches of the bronchial tree, called bronchioles.
- Polyposis nasi et sinuum (nasal polyps; 46%).
- Pneumothorax (gas chest) – collapse of the lung caused by air in the actually airless pleural space (space between the lung and pleura).
- Pulmonary exacerbations (acute derailment of local infectious and inflammatory processes in the lungs) – associated with lower 25-OH vitamin D (25-hydroxy vitamin D) levels and female sex.
- Pulmonary emphysema – increase in air content in the lungs due to destruction of the parenchyma (lung tissue).
Certain conditions originating in the perinatal period (P00-P96).
- Neonatal jaundice (neonatal jaundice ).
Endocrine, nutritional and metabolic diseases (E00-E90).
- Type III diabetes mellitus (3c: diseases of the exocrine pancreas (digestive enzymes)) (32 %)
- Exocrine pancreatic insufficiency with fat maldigestion – pancreatic disease associated with insufficient production of digestive enzymes, resulting in poor digestion (maldigestion) of fats (87% of CF patients)
- Relative insulin deficiency due to degeneration of endocrine pancreatic function (diabetes mellitus).
- Pubertas tarda (delayed puberty)
Infectious and parasitic diseases (A00-B99).
- Recurrent (recurrent) respiratory tract infections, especially with Haemophilus influenzae, Staphylococcus aureus, and Pseudomonas aeruginosa.
Liver, gallbladder, and bile ducts-pancreas (pancreas) (K70-K77; K80-K87).
- CF-associated liver disease (CFLD).
- Liver cirrhosis (liver shrinkage; end stage of a variety of liver diseases; esp. focal biliary or multilobular cirrhosis)
- Steatosis hepatis (fatty liver; 25-60%).
- Cholecystolithiasis (stone gallbladder; 15%).
- Pancreatitis (inflammation of the pancreas; about 2%); possibly recurrent (recurring).
Musculoskeletal system and connective tissue (M00-M99).
- Arthropathies (joint diseases).
- Osteoporosis (bone loss)
Symptoms and abnormal clinical and laboratory findings, not elsewhere classified (R00-R99).
- Failure to thrive
- Hemoptysis (coughing up blood)
- Cough, chronic
- Cachexia (emaciation; very severe emaciation).
Genitourinary system (kidneys, urinary tract – reproductive organs) (N00-N99).
- Azoospermia, obstructive – absence of mature sperm in the ejaculate; boys/men with cystic fibrosis are therefore usually infertile (97%)
- Infertility in girls / women (circa 20%).
Digestive system (K00-K93)
- Distal intestinal obstruction syndrome (DIOS; synonym: meconium ileus equivalent (MIÄ)) – in the adult or older child with cystic fibrosis general analogue to meconium ileus of the newborn: poorly digested stool masses can obstruct the lower ileum and cecum and lead to a “subileus condition ” (distal intestinal obstruction syndrome = DIOS) (6 %)
- Meconium ileus – obstruction of a section of the intestine by a thickened first stool, called puerperal feces (meconium) (about 20%).
Varia
- In parents of cystic fibrosis patients and other heterozygous CFTR carriers (“cystic fibrosis transmembrane conductance regulator”), in which only one allele is defective, expression of the chloride channel is reduced by up to 50%. In Germany, about 4% of the population have a defective CFTR gene. This is associated with 57 disorders; among others, there is an increased risk of bronchial asthma, bronchiectasis (irreversible saccular or cylindrical dilatation of the bronchi (medium-sized airways)), failure to thrive (odds ratio 2.78), short stature (odds ratio 2.41), male infertility (odds ratio 5.09; Infertility), chronic pancreatitis (odds ratio 6.76; pancreatitis), jaundice (odds ratio 1.66; jaundice), infections with nontuberculous mycobacteria (odds ratio 2.75), and sinusitis (sinusitis) were detected
