Difference between revisions of "Cystic fibrosis"
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==Gene== | ==Gene== | ||
*CFTR gene.<ref name=omim219700>{{OMIM|219700}}</ref> | *CFTR gene.<ref name=omim219700>{{OMIM|219700}}</ref> | ||
==Clinical features== | |||
Mnemonic ''CF PANCREAS'':<ref>URL: [http://www.valuemd.com/pediatrics_mnemonics.php http://www.valuemd.com/pediatrics_mnemonics.php]. Accessed on: 14 March 2012.</ref> | |||
*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== | ==Associated pathology== | ||
Pulmonary: | Pulmonary: | ||
*[[Bronchiectasis]]. | *[[Bronchiectasis]]. | ||
*Fibrosis - secondary to infections. | |||
Gastrointestinal tract: | Gastrointestinal tract: | ||
| Line 12: | Line 34: | ||
*[[Meconium ileus]]. | *[[Meconium ileus]]. | ||
*[[Meconium peritonitis]]. | *[[Meconium peritonitis]]. | ||
*[[Crohn's disease]].<ref name=pmid8149854>{{Cite journal | last1 = Lloyd-Still | first1 = JD. | title = Crohn's disease and cystic fibrosis. | journal = Dig Dis Sci | volume = 39 | issue = 4 | pages = 880-5 | month = Apr | year = 1994 | doi = | PMID = 8149854 }}</ref> | |||
Genitourinary tract: | Genitourinary tract: | ||
| Line 24: | Line 47: | ||
[[Category:Pediatric pathology]] | [[Category:Pediatric pathology]] | ||
[[Category:Diagnosis]] | |||
Latest revision as of 18:11, 31 January 2022
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.