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:
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*[[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:
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{{Reflist|2}}
{{Reflist|2}}


[[Category:Stuff]]
[[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

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:

Gastrointestinal tract:

Genitourinary tract:

See also

References

  1. Online 'Mendelian Inheritance in Man' (OMIM) 219700
  2. URL: http://www.valuemd.com/pediatrics_mnemonics.php. Accessed on: 14 March 2012.
  3. Lloyd-Still, JD. (Apr 1994). "Crohn's disease and cystic fibrosis.". Dig Dis Sci 39 (4): 880-5. PMID 8149854.
  4. 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.