Cystic fibrosis
Last updated: Friday, 26, November, 2010
| Key Information | Appropriate Tests |
|---|---|
| Diagniosis | |
| Prenatal diagnosis | Molecular genetics (CVS or amniotic cells) for mutation identification, DNA polymorphisms in families without previously identified mutations. |
| Neonatal screening | Patients with initial positive results should be followed up with full molecular genetics cystic fibrosis and chloride - sweat. See also Neonatal screen. |
| Symptomatic patients, including Meconium ileus | Molecular genetics and chloride - sweat. If there is a strong clinical suspicion, in a patient with normal sweat chloride and initially normal molecular genetics studies, rare mutations should be sought. In infants presenting with meconium ileus, blood trypsinogen (neonatal screening) may be normal, so sweat electrolytes and molecular genetics must always be performed. |
Complications | |
Chronic respiratory infection, especially | Sputum - microscopy and culture esp for mucoid Pseudomonas aeruginosa, Burkholderia cepacia and Staphylococcus aureus. |
Salt depletion | See Hyponatraemia. |
Infertility (in males) | Congenital bilateral absence of the vas deferens: semen analysis. |