> For the complete documentation index, see [llms.txt](https://thisispiggy.gitbook.io/my-wiki/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://thisispiggy.gitbook.io/my-wiki/01-step-1/pulmonary/17-cystic-fibrosis.md).

# 17 Cystic Fibrosis

## Genetics

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Pulmonary/Cystic%20fibrosis%20inheritance,%20protein%20mutated,%20function,%20mutation/README.md)..

![](https://f001.backblazeb2.com/file/wikiFiles/dHQwNmz.jpg)

* name from fibrous cyst found in pancreas

![](https://f001.backblazeb2.com/file/wikiFiles/52MoTKg.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/erIWHYQ.jpg)

* abnormal: sticky mucosal surfaces because not enough water

![](https://f001.backblazeb2.com/file/wikiFiles/X44Iza4.jpg)

* **abnormal folding**: protein targeted for ubiquitin protease. Result: no protein on cell surface
* protein is made just didn't make it to the membrane

## Symptoms

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Pulmonary/CF%20neonate%20symptoms/README.md)..

![](https://f001.backblazeb2.com/file/wikiFiles/YvxbdGO.jpg)

* testing for recurrent infections leads to CF diagnosis
* meconium: bowel obstructions

![](https://f001.backblazeb2.com/file/wikiFiles/RFNEo4O.jpg)

* no bowel movement in first few days
* air fluid: when bowel obstructed, fluid backs up in obstruction, mix up with air = air fluid levels

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Pulmonary/CF%20pathogenesis%20and%20symptoms,%20lung,%20GI,%20liver,%20reproductive,%20others/README.md)..

![](https://f001.backblazeb2.com/file/wikiFiles/oqIGgrt.jpg)

* no pancreatic enzymes to absorb fat

![](https://f001.backblazeb2.com/file/wikiFiles/PnYdByq.jpg)

* stable for a while then develop acute exacerbation
* pseudomonas both for acute and chronic exacerbation

![](https://f001.backblazeb2.com/file/wikiFiles/oAX3Syp.jpg)

* clog up pancreatic duct
* recurrent pancreatitis: burn out islet cells

![](https://f001.backblazeb2.com/file/wikiFiles/rUefKxZ.jpg)

* vitamin E: antioxidant. Deficient leads to anemia, acanthocytosis, muscle weakness, spinocerebellar tract demylelination (ataxia). **Neurologic symptoms without megaloblastic anemia**

![](https://f001.backblazeb2.com/file/wikiFiles/ToxmHSe.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/aaj0SfG.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/Y0A9iBs.jpg)

* thickened mucous can develop into polyps inside nose

## Diagnosis

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Pulmonary/CF%20diagnosis/README.md)..

![](https://f001.backblazeb2.com/file/wikiFiles/Hce0gLH.jpg)

* iontophoresis: electric field for test
* pilocarpine: muscarinic, parasympathetic, induce sweating (sweat induced by sympathetic but Ach NT)

![](https://f001.backblazeb2.com/file/wikiFiles/bi5VcgR.jpg)

* nasal potential difference: **Na** abnormality, not Cl abnormality

## Treatment

[\_](https://github.com/thisispiggy/my-wiki/tree/601ff771dc2fac1318ae8b59435ac8485628fd81/01%20Step%201/Pulmonary/CF%20treatment,%20prognosis,%20screening/README.md)..

![](https://f001.backblazeb2.com/file/wikiFiles/NwCk9Jo.jpg)

* dying neutrophils spill DNA, polymerized in mucous
* saline: moisten secretions
* N-acetylcysteine: cleaves disulfide bonds in mucous, but causes bronchospasm
* transplant: have to be relatively healthy (kids)

![](https://f001.backblazeb2.com/file/wikiFiles/ArTrA8i.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/Al2Wo5T.jpg)

![](https://f001.backblazeb2.com/file/wikiFiles/db71zyA.jpg)

* not always done
* **trypsinogen**: pancreatic zymogen
* heel stick testing