Difference between revisions of "Cystic fibrosis"
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*Rectal prolapse. | *Rectal prolapse. | ||
*Electrolyte elevations in sweat. | *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]]. | *Absence of [[vas deferens]]. | ||
*Sputum with ''Pseudomonas''. | *Sputum with ''Pseudomonas''. | ||
Revision as of 04:58, 5 May 2012
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.
Genitourinary tract:
- Infertility - bilateral absence vas deferens.[3]
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 219700
- ↑ URL: http://www.valuemd.com/pediatrics_mnemonics.php. Accessed on: 14 March 2012.
- ↑ 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.