Cystic fibrosis natural history, complications and prognosis: Difference between revisions
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In cystic fibrosis about 90% of patients present with exocrine pancreatic insufficiency. Pancreatic insufficiency leads to maldigestion and malabsorption of nutrients, followed by sequelae of malnutrition include permanent stunting of stature, cognitive dysfunction (due to vitamin E deficiency) and more rapid decline in pulmonary function. Other gastrointestinal complications related to cystic fibrosis include:<ref name="pmid23142604">{{cite journal |vauthors=Gelfond D, Borowitz D |title=Gastrointestinal complications of cystic fibrosis |journal=Clin. Gastroenterol. Hepatol. |volume=11 |issue=4 |pages=333–42; quiz e30–1 |date=April 2013 |pmid=23142604 |doi=10.1016/j.cgh.2012.11.006 |url= |author=}}</ref><ref name="pmid19393106">{{cite journal |vauthors=Flume PA |title=Pulmonary complications of cystic fibrosis |journal=Respir Care |volume=54 |issue=5 |pages=618–27 |date=May 2009 |pmid=19393106 |doi= |url= |author=}}</ref> | In cystic fibrosis about 90% of patients present with exocrine pancreatic insufficiency. Pancreatic insufficiency leads to maldigestion and malabsorption of nutrients, followed by sequelae of malnutrition include permanent stunting of stature, cognitive dysfunction (due to vitamin E deficiency) and more rapid decline in pulmonary function. Other gastrointestinal complications related to cystic fibrosis include:<ref name="pmid23142604">{{cite journal |vauthors=Gelfond D, Borowitz D |title=Gastrointestinal complications of cystic fibrosis |journal=Clin. Gastroenterol. Hepatol. |volume=11 |issue=4 |pages=333–42; quiz e30–1 |date=April 2013 |pmid=23142604 |doi=10.1016/j.cgh.2012.11.006 |url= |author=}}</ref><ref name="pmid19393106">{{cite journal |vauthors=Flume PA |title=Pulmonary complications of cystic fibrosis |journal=Respir Care |volume=54 |issue=5 |pages=618–27 |date=May 2009 |pmid=19393106 |doi= |url= |author=}}</ref><ref name="pmid27330503">{{cite journal |vauthors=Sabharwal S |title=Gastrointestinal Manifestations of Cystic Fibrosis |journal=Gastroenterol Hepatol (N Y) |volume=12 |issue=1 |pages=43–7 |date=January 2016 |pmid=27330503 |pmc=4865785 |doi= |url=}}</ref> | ||
* Pancreatitis | * Pancreatitis | ||
* Gastroesophageal reflux disease | * Gastroesophageal reflux disease | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: , Shaghayegh Habibi, M.D.[2]
Overview
Malnutrition and poor growth (due to loss of pancreatic exocrine function) leads to death in the first decade of life for most untreated patients. The most significant complications are seen in airways (responsible for 80% of mortality) and most common chronic pulmonary infection include P. aeruginosa, S. aureus and H. influenzae. In cystic fibrosis 98% of men are infertile due to aspermia. Lung complications are currently the primary causes of morbidity and are responsible for 80% of mortality in these patients and gastrointestinal complications include pancreatice insufficiency, pancreatitis, gastroesophageal reflux disease, distal intestinal obstuction syndrome, constipation and small intestinal bacterial overgrowth.
Natural History
Malnutrition and poor growth (due to loss of pancreatic exocrine function) leads to death in the first decade of life for most untreated patients.[1]
Complications
Lung involvement:
In patients with cystic fibrosis the most significant changes and complications are seen in airways. The primary genetic defect eventually causes chronic pulmonary infections. P. aeruginosa is the most common one, followed by S aureus and H influenzae.[2][3]
- Infancy: the most common bacteria cultured is S. aureus with H. influenzae increasing during childhood
- Adolescence and young adulthood: the commonest pathogen cultured is P. aeruginosa
Other lung complications of cystic fibrosis include:[4]
- Sinusitis
- Airway obstruction
- Bronchiectasis
- Hemoptysis
- Pneumothorax
- Respiratory failure
Gastrointestinal involvement:
In cystic fibrosis about 90% of patients present with exocrine pancreatic insufficiency. Pancreatic insufficiency leads to maldigestion and malabsorption of nutrients, followed by sequelae of malnutrition include permanent stunting of stature, cognitive dysfunction (due to vitamin E deficiency) and more rapid decline in pulmonary function. Other gastrointestinal complications related to cystic fibrosis include:[5][4][6]
- Pancreatitis
- Gastroesophageal reflux disease
- Distal intestinal obstuction syndrome
- Obstipation/constipation
- Small intestinal bacterial overgrowth
- Steatosis
- Cholelithiasis
- Meconium ileus
- Malabsorption
Reproductive system involvement:
In cystic fibrosis 98% of men are infertile. Aspermia results from atresia or absent vasa deferentia and abnormal or absent seminal vesicles.[7]
Endocrine system:
Endocrine complications related to cystic fibrosis include:[4]
- Diabetes mellitus
- Osteoporosis
- Delayed sexual development
- Hypogonadism
Prognosis
- Life expectancy of patients with cystic fibrosis has been increased over past decades because of better symptomatic treatment strategies.
- In patients with cystic fibrosis, obstructive lung disease and other lung complications are currently the primary causes of morbidity and are responsible for 80% of mortality.[1][8]
- At present time survival probability of children is 40-50 years.[9]
References
- ↑ 1.0 1.1 Cutting GR (2015). "Cystic fibrosis genetics: from molecular understanding to clinical application". Nat. Rev. Genet. 16 (1): 45–56. doi:10.1038/nrg3849. PMC 4364438. PMID 25404111.
- ↑ Edmondson C, Davies JC (2016). "Current and future treatment options for cystic fibrosis lung disease: latest evidence and clinical implications". Ther Adv Chronic Dis. 7 (3): 170–83. doi:10.1177/2040622316641352. PMC 4907071. PMID 27347364.
- ↑ Ratjen FA (2009). "Cystic fibrosis: pathogenesis and future treatment strategies". Respir Care. 54 (5): 595–605. PMID 19393104.
- ↑ 4.0 4.1 4.2 Flume PA (May 2009). "Pulmonary complications of cystic fibrosis". Respir Care. 54 (5): 618–27. PMID 19393106.
- ↑ Gelfond D, Borowitz D (April 2013). "Gastrointestinal complications of cystic fibrosis". Clin. Gastroenterol. Hepatol. 11 (4): 333–42, quiz e30–1. doi:10.1016/j.cgh.2012.11.006. PMID 23142604.
- ↑ Sabharwal S (January 2016). "Gastrointestinal Manifestations of Cystic Fibrosis". Gastroenterol Hepatol (N Y). 12 (1): 43–7. PMC 4865785. PMID 27330503.
- ↑ Ratjen F, Döring G (2003). "Cystic fibrosis". Lancet. 361 (9358): 681–9. doi:10.1016/S0140-6736(03)12567-6. PMID 12606185.
- ↑ Pettit RS, Fellner C (July 2014). "CFTR Modulators for the Treatment of Cystic Fibrosis". P T. 39 (7): 500–11. PMC 4103577. PMID 25083129.
- ↑ Fila L (2018). "[Cystic fibrosis in adults]". Vnitr Lek (in Czech). 63 (11): 834–842. PMID 29303286.