Cystic fibrosis natural history, complications and prognosis: Difference between revisions
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==Overview== | ==Overview== | ||
[[Malnutrition]] and poor growth (due to loss of [[Pancreas|pancreatic]] [[Exocrine gland|exocrine]] function) leads to death in the first decade of life for most untreated patients. The most significant [[Complication (medicine)|complications]] are seen in airways (responsible for 80% of mortality) and most common chronic pulmonary infection include ''[[P. aeruginosa]],'' ''[[Staphylococcus aureus|S. aureus]] and [[Haemophilus influenzae|H. influenzae]].'' In cystic fibrosis 98% of men are [[Infertility|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 | [[Malnutrition]] and poor growth (due to loss of [[Pancreas|pancreatic]] [[Exocrine gland|exocrine]] function) leads to death in the first decade of life for most untreated patients. The most significant [[Complication (medicine)|complications]] are seen in airways (responsible for 80% of mortality) and most common chronic pulmonary infection include ''[[P. aeruginosa]],'' ''[[Staphylococcus aureus|S. aureus]] and [[Haemophilus influenzae|H. influenzae]].'' In cystic fibrosis 98% of men are [[Infertility|infertile]] due to [[aspermia]]. Lung complications are currently the primary causes of [[morbidity]] and are responsible for 80% of [[Mortality rate|mortality]] in these patients and [[Gastrointestinal tract|gastrointestinal]] complications include [[pancreatic insufficiency]], [[pancreatitis]], [[gastroesophageal reflux disease]], distal intestinal obstuction syndrome, [[constipation]] and [[small intestinal bacterial overgrowth]]. In cystic fibrosis, obstructive lung disease and other lung complications are currently the primary causes of [[morbidity]] and are responsible for 80% of [[Mortality rate|mortality]]. At present time survival probability of children is 40-50 years. | ||
==Natural History== | ==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.<ref name="pmid25404111">{{cite journal |vauthors=Cutting GR |title=Cystic fibrosis genetics: from molecular understanding to clinical application |journal=Nat. Rev. Genet. |volume=16 |issue=1 |pages=45–56 |year=2015 |pmid=25404111 |pmc=4364438 |doi=10.1038/nrg3849 |url=}}</ref> | [[Malnutrition]] and poor growth (due to loss of [[Pancreas|pancreatic]] [[Exocrine gland|exocrine]] function) leads to death in the first decade of life for most untreated patients.<ref name="pmid25404111">{{cite journal |vauthors=Cutting GR |title=Cystic fibrosis genetics: from molecular understanding to clinical application |journal=Nat. Rev. Genet. |volume=16 |issue=1 |pages=45–56 |year=2015 |pmid=25404111 |pmc=4364438 |doi=10.1038/nrg3849 |url=}}</ref> | ||
==Complications== | ==Complications== | ||
=== Lung involvement: === | === 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.''<ref name="pmid27347364">{{cite journal |vauthors=Edmondson C, Davies JC |title=Current and future treatment options for cystic fibrosis lung disease: latest evidence and clinical implications |journal=Ther Adv Chronic Dis |volume=7 |issue=3 |pages=170–83 |year=2016 |pmid=27347364 |pmc=4907071 |doi=10.1177/2040622316641352 |url=}}</ref><ref name="pmid19393104">{{cite journal |vauthors=Ratjen FA |title=Cystic fibrosis: pathogenesis and future treatment strategies |journal=Respir Care |volume=54 |issue=5 |pages=595–605 |year=2009 |pmid=19393104 |doi= |url=}}</ref> | In patients with cystic fibrosis the most significant changes and complications are seen in airways. The primary genetic defect eventually causes chronic pulmonary infections. ''[[Pseudomonas aeruginosa|P. aeruginosa]]'' is the most common one, followed by ''[[Staphylococcus aureus|S aureus]] and [[Haemophilus influenzae|H. influenzae]].''<ref name="pmid27347364">{{cite journal |vauthors=Edmondson C, Davies JC |title=Current and future treatment options for cystic fibrosis lung disease: latest evidence and clinical implications |journal=Ther Adv Chronic Dis |volume=7 |issue=3 |pages=170–83 |year=2016 |pmid=27347364 |pmc=4907071 |doi=10.1177/2040622316641352 |url=}}</ref><ref name="pmid19393104">{{cite journal |vauthors=Ratjen FA |title=Cystic fibrosis: pathogenesis and future treatment strategies |journal=Respir Care |volume=54 |issue=5 |pages=595–605 |year=2009 |pmid=19393104 |doi= |url=}}</ref> | ||
* '''Infancy:''' the most common bacteria cultured is S. aureus with ''H. influenzae'' increasing during childhood | * '''Infancy:''' the most common bacteria cultured is S. aureus with ''[[Haemophilus influenzae|H. influenzae]]'' increasing during childhood | ||
* '''Adolescence and young adulthood:''' the commonest pathogen cultured is ''P. aeruginosa'' | * '''Adolescence and young adulthood:''' the commonest pathogen cultured is ''[[Pseudomonas aeruginosa|P. aeruginosa]]'' | ||
Other lung complications of cystic fibrosis include:<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> | Other lung complications of cystic fibrosis include:<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> | ||
* Sinusitis | * Sinusitis | ||
* Airway obstruction | * Airway obstruction | ||
* Bronchiectasis | * [[Bronchiectasis]] | ||
* Hemoptysis | * [[Hemoptysis]] | ||
* Pneumothorax | * [[Pneumothorax]] | ||
* Respiratory failure | * [[Respiratory failure]] | ||
=== Gastrointestinal involvement: === | === 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:<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="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="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> | In cystic fibrosis about 90% of patients present with [[Exocrine gland|exocrine]] [[pancreatic insufficiency]]. [[Pancreatic insufficiency]] leads to [[maldigestion]] and [[malabsorption]] of [[Nutrient|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 tract|gastrointestinal]] complications related to cystic fibrosis include:<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="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="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 pancreatic insufficiency, pancreatitis, gastroesophageal reflux disease, distal intestinal obstuction syndrome, constipation and small intestinal bacterial overgrowth. In cystic fibrosis, obstructive lung disease and other lung complications are currently the primary causes of morbidity and are responsible for 80% of mortality. At present time survival probability of children is 40-50 years.
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:[4][5][6]
- Pancreatitis
- Gastroesophageal reflux disease
- Distal intestinal obstuction syndrome
- Obstipation/constipation
- Small intestinal bacterial overgrowth
- Steatosis
- Cholelithiasis
- Meconium ileus
- Malabsorption
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][7]
- At present time survival probability of children is 40-50 years.[8]
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.
- ↑ 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.