Cystic fibrosis
Cystic fibrosis, abbreviated CF, a genetic disease that predominantly affects the lungs. It is inherited autosomal recessive.
Gene
- CFTR gene.[1]
Clinical features
Mnemonic CF PANCREAS:[2]
- Chronic cough.
- Failure to thrive.
- Pancreatic insufficiency, e.g. steatorrhea.
- Alkalosis.
- Nasal polyps & neonatal intestinal obstruction (meconium ileus).
- Clubbing & chest x-ray findings.
- Rectal prolapse.
- Electrolyte elevations in sweat.
- Absence of vas deferens.
- Sputum with Pseudomonas.
Trimmed version
- PAncreatic insufficiency, e.g. steatorrhea.
- Nasal polyps & neonatal intestinal obstruction (meconium ileus).
- Clubbing.
- REctal prolapse.
- Absence of vas deferens.
- Sputum with Pseudomonas.
Associated pathology
Pulmonary:
- Bronchiectasis.
- Fibrosis - secondary to infections.
Gastrointestinal tract:
- Pancreatic insufficiency.
- Meconium ileus.
- Meconium peritonitis.
- Crohn's disease.[3]
Genitourinary tract:
- Infertility - bilateral absence vas deferens.[4]
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 219700
- ↑ URL: http://www.valuemd.com/pediatrics_mnemonics.php. Accessed on: 14 March 2012.
- ↑ Lloyd-Still, JD. (Apr 1994). "Crohn's disease and cystic fibrosis.". Dig Dis Sci 39 (4): 880-5. PMID 8149854.
- ↑ McCallum, TJ.; Milunsky, JM.; Cunningham, DL.; Harris, DH.; Maher, TA.; Oates, RD. (Oct 2000). "Fertility in men with cystic fibrosis: an update on current surgical practices and outcomes.". Chest 118 (4): 1059-62. PMID 11035677.