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| {{CMG}} | | __NOTOC__ |
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| | {{CMG}}; {{AE}} {{SHH}} |
| {{Cystic fibrosis}} | | {{Cystic fibrosis}} |
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| ==Overview== | | ==Overview== |
| ==Symptomatic diseases==
| | Most common symptoms in cystic fibrosis include salty sweat, constant [[Cough|coughing]], [[diarrhea]] or [[Steatorrhea|greasy stools]], [[Abdominal pain|stomach pain]], [[constipation]] and [[Failure to thrive|poor weight gain]]. Less common symptoms include [[nasal polyp]], [[hemoptysis]], and skin irritation. |
| ===Lung and sinus disease===
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| Lung disease results from clogging the airways due to mucus buildup and resulting inflammation. [[Inflammation]] and infection cause injury to the lungs and structural changes that lead to a variety of symptoms. In the early stages, incessant coughing, copious [[phlegm]] production, and decreased ability to exercise are common. Many of these symptoms occur when [[bacteria]] that normally inhabit the thick mucus grow out of control and cause pneumonia. In later stages of CF, changes in the architecture of the lung further exacerbate chronic difficulties in breathing. [[Image:Aspergillus fumigatus 01.jpg|thumb|left|200px|'''Aspergillus fumigatus -''' A common fungus which can lead to worsening lung disease in people with CF]]Other symptoms include coughing up blood ([[hemoptysis]]), changes in the major airways in the lungs ([[bronchiectasis]]), high [[blood pressure]] in the lung ([[pulmonary hypertension]]), [[heart failure]], difficulties getting enough [[oxygen]] to the body ([[hypoxia]]), and respiratory failure requiring support with breathing masks such as [[bilevel positive airway pressure]] machines or [[Mechanical ventilation|ventilators]].<ref name="Rowe">Rowe SM, Miller S, Sorscher EJ. ''Cystic fibrosis.'' N Engl J Med. 2005 May 12;352(19):1992–2001. PMID 15888700</ref> In addition to typical bacterial infections, people with CF more commonly develop other types of lung disease. Among these is [[allergic bronchopulmonary aspergillosis]], in which the body's response to the common [[fungus]] ''[[Aspergillus fumigatus]]'' causes worsening of breathing problems. Another is infection with ''[[mycobacterium avium complex]]'' (MAC), a group of bacteria related to [[tuberculosis]], which can cause further lung damage and does not respond to common antibiotics.
| | ==History and Symptoms== |
| Mucus in the [[paranasal sinus]]es is equally thick and may also cause blockage of the sinus passages, leading to infection. This may cause facial pain, fever, nasal drainage, and [[headache]]s. Individuals with CF may develop overgrowth of the nasal tissue ([[nasal polyp]]s) due to inflammation from chronic sinus infections. These polyps can block the nasal passages and increase breathing difficulties.<ref>Maldonado M, Martinez A, Alobid I, Mullol J. ''The antrochoanal polyp.'' Rhinology. 2004 Dec;42(4):178-82. Review. PMID 15626248</ref><ref>Ramsey B, Richardson MA. ''Impact of sinusitis in cystic fibrosis.'' Allergy Clin Immunol. 1992 Sep;90(3 Pt 2):547-52. PMID 1527348</ref>
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| ===Gastrointestinal, liver and pancreatic disease=== | | === History === |
| Prior to prenatal and [[newborn screening]], cystic fibrosis was often diagnosed when a newborn infant failed to pass faeces ([[meconium]]). Meconium may completely block the [[small intestine|intestines]] and cause serious illness. This condition, called [[meconium ileus]], occurs in 10% of newborns with CF.<ref>Eggermont E, De Boeck K. ''Small-intestinal abnormalities in cystic fibrosis patients.'' Eur J Pediatr. 1991 Oct;150(12):824-8. Review. PMID 1743211</ref> In addition, protrusion of internal [[rectum|rectal]] membranes ([[rectal prolapse]]) is more common in CF because of increased fecal volume, malnutrition, and [[Valsalva maneuver|increased intra–abdominal pressure]] due to coughing.<ref>Kulczycki LL, Shwachman H. ''Studies in cystic fibrosis of the pancreas; occurrence of rectal prolapse.'' [[New England Journal of Medicine|N Engl J Med]]. 1958 Aug 28;259(9):409-12. PMID 13578072</ref>
| | History should be focused on specific areas, including:<ref name="urlCystic Fibrosis - National Library of Medicine - PubMed Health">{{cite web |url=https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0063023/ |title=Cystic Fibrosis - National Library of Medicine - PubMed Health |format= |work= |accessdate=}}</ref><ref name="pmid28472055">{{cite journal |vauthors=Tabori H, Arnold C, Jaudszus A, Mentzel HJ, Renz DM, Reinsch S, Lorenz M, Michl R, Gerber A, Lehmann T, Mainz JG |title=Abdominal symptoms in cystic fibrosis and their relation to genotype, history, clinical and laboratory findings |journal=PLoS ONE |volume=12 |issue=5 |pages=e0174463 |date=2017 |pmid=28472055 |pmc=5417419 |doi=10.1371/journal.pone.0174463 |url=}}</ref> |
| | * Salty sweat |
| | * Diarrhea or bulky, foul smelling, and greasy stool |
| | * [[Abdominal pain]] and discomfort |
| | * Fatigue |
| | * Family history of cystic fibrosis |
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| The thick mucus seen in the lungs has its counterpart in thickened secretions from the pancreas, an organ responsible for providing [[Pancreatic juice|digestive juices]] which help break down food. These secretions block the movement of the digestive enzymes into the [[duodenum]] and result in irreversible damage to the pancreas, often with painful inflammation ([[pancreatitis]]).<ref>Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS. ''Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.'' N Engl J Med. 1998 Sep 3;339(10):653-8. PMID 9725922</ref> The lack of digestive enzymes leads to difficulty absorbing nutrients with their subsequent excretion in the faeces, a disorder known as [[malabsorption]]. Malabsorption leads to [[malnutrition]] and poor growth and development because of calorie loss. Individuals with CF also have difficulties absorbing the fat-soluble vitamins [[vitamin A|A]], [[vitamin D|D]], [[vitamin E|E]], and [[vitamin K|K]]. In addition to the pancreas problems, people with cystic fibrosis experience more [[gastroesophageal reflux disease|heartburn]], intestinal blockage by [[Intussusception (medical disorder)|intussusception]], and [[constipation]].<ref>Malfroot A, Dab I. ''New insights on gastro-oesophageal reflux in cystic fibrosis by longitudinal follow up.'' Arch Dis Child. 1991 Nov;66(11):1339–45. PMID 175564</ref> Older individuals with CF may also develop [[distal intestinal obstruction syndrome]] when thickened faeces cause intestinal blockage.<ref>Khoshoo V, Udall JN Jr. ''Meconium ileus equivalent in children and adults.'' Am J Gastroenterol. 1994 Feb;89(2):153-7. PMID 8304294</ref>
| | === Common symptoms === |
| | Common symptoms in cystic fibrosis include:<ref name="urlCystic Fibrosis - National Library of Medicine - PubMed Health">{{cite web |url=https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0063023/ |title=Cystic Fibrosis - National Library of Medicine - PubMed Health |format= |work= |accessdate=}}</ref><ref name="pmid28472055">{{cite journal |vauthors=Tabori H, Arnold C, Jaudszus A, Mentzel HJ, Renz DM, Reinsch S, Lorenz M, Michl R, Gerber A, Lehmann T, Mainz JG |title=Abdominal symptoms in cystic fibrosis and their relation to genotype, history, clinical and laboratory findings |journal=PLoS ONE |volume=12 |issue=5 |pages=e0174463 |date=2017 |pmid=28472055 |pmc=5417419 |doi=10.1371/journal.pone.0174463 |url=}}</ref> |
| | * Constant [[Cough|coughing]] |
| | * [[Steatorrhea]] |
| | * [[Constipation]] |
| | * Poor weight gain/ [[failure to thrive]] |
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| Thickened secretions also may cause liver problems in patients with CF. [[Bile]] secreted by the liver to aid in digestion may block the [[bile duct]]s, leading to liver damage. Over time, this can lead to [[cirrhosis]], in which the liver fails to rid the blood of toxins and does not make important [[protein]]s such as those responsible for [[coagulation|blood clotting]].<ref>Williams SG, Westaby D, Tanner MS, Mowat AP. ''Liver and biliary problems in cystic fibrosis.'' Br Med Bull. 1992 Oct;48(4):877-92. PMID 1458306</ref><ref name="liver">Colombo C, Russo MC, Zazzeron L, Romano G. ''Liver disease in cystic fibrosis.'' J Pediatr Gastroenterol Nutr. 2006 Jul;43 Suppl 1:S49-55. PMID 16819402</ref>
| | === Less common symptoms === |
| | Less common symptoms in cystic fibrosis include:<ref name="urlCystic Fibrosis - National Library of Medicine - PubMed Health">{{cite web |url=https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0063023/ |title=Cystic Fibrosis - National Library of Medicine - PubMed Health |format= |work= |accessdate=}}</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><ref name="pmid28564496">{{cite journal |vauthors=Dowaikh H, Morfin-Sherpa F, Reix P |title=Acute chest pain in an adolescent with cystic fibrosis in September: Would you have thought about this? |journal=Pediatr. Pulmonol. |volume=52 |issue=10 |pages=E70–E72 |date=October 2017 |pmid=28564496 |doi=10.1002/ppul.23746 |url=}}</ref> |
| | * [[Nasal polyp|Nasal polyps]] |
| | * Frequent [[Cough|coughing]] and [[hemoptysis]] (due to [[Respiratory tract infection|respiratory infection]]) |
| | * Skin irritation ([[zinc deficiency]] can cause [[dermatitis]]) |
| | * [[Chest pain]] |
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| ===Endocrine disease and growth=== | | ==References== |
| [[Image:ClubbingFingers1.jpg|thumb|left|200px|'''Clubbing''' Patients with CF can often have enlargement of their fingers, Extreme case shown here.]]
| | {{Reflist|2}} |
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| The pancreas contains the [[islets of Langerhans]], which are responsible for making insulin, a hormone that helps regulate blood [[glucose]]. Damage of the pancreas can lead to loss of the islet [[Cell (biology)|cell]]s, leading to diabetes that is unique to those with the disease.<ref>Moran A, Pyzdrowski KL, Weinreb J, Kahn BB, Smith SA, Adams KS, Seaquist ER.''Insulin sensitivity in cystic fibrosis. '' Diabetes. 1994 Aug;43(8):1020–6. PMID 8039595</ref> Cystic Fibrosis Related Diabetes (CFRD), as it is known as, shares characteristics that can be found in [[Diabetes#Type 1 diabetes mellitus|Type 1]] and [[Diabetes#Type 2 diabetes mellitus|Type 2]] diabetics and is one of the principal non-pulmonary complications of CF.<ref>Alves Cde A, Aguiar RA, Alves AC, Santana MA. ''Diabetes mellitus in patients with cystic fibrosis.'' J Bras Pneumol. 2007 Apr;33(2):213-21. PMID 17724542</ref> Vitamin D is involved in [[calcium]] and [[phosphorus]] regulation. Poor uptake of vitamin D from the diet because of malabsorption leads to the bone disease [[osteoporosis]] in which weakened bones are more susceptible to [[bone fracture|fracture]]s.<ref>Haworth CS, Selby PL, Webb AK, Dodd ME, Musson H, McL Niven R, Economou G, Horrocks AW, Freemont AJ, Mawer EB, Adams JE. ''Low bone mineral density in adults with cystic fibrosis.'' Thorax. 1999 Nov;54(11):961-7. PMID 10525552</ref> In addition, people with CF often develop [[clubbing]] of their fingers and toes due to the effects of chronic illness and [[Hypoxia (medical)|low oxygen]] on their tissues.
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| Poor growth is a hallmark of CF. Children with CF typically do not gain weight or height at the same rate as their peers, and occasionally are not diagnosed until investigation is initiated for poor growth. The causes of growth failure are multi–factorial and include chronic lung infection, poor absorption of nutrients through the gastrointestinal tract, and increased metabolic demand due to chronic illness.
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| ===Infertility===
| | [[Category:Medicine]] |
| [[Infertility]] affects both men and women. At least 97 percent of men with cystic fibrosis are sterile.<ref>McCallum TJ, Milunsky JM, Cunningham DL, Harris DH, Maher TA, Oates RD. ''Fertility in men with cystic fibrosis: an update on current surgical practices and outcomes.'' Chest. 2000 Oct;118(4):1059–62. PMID 11035677</ref> These men make normal [[spermatozoon|sperm]] but are missing the tube ([[vas deferens]]), which connects the [[Testicle|testes]] to the [[ejaculatory duct]]s of the [[penis]].<ref>Dodge JA. ''Male fertility in cystic fibrosis.'' Lancet. 1995 Sep 2;346(8975):587-8. PMID 7650999</ref> Many men found to have [[congenital absence of the vas deferens]] during evaluation for infertility have a mild, previously undiagnosed form of CF.<ref>Augarten A, Yahav Y, Kerem B, Halle D, Laufer J, Szeinberg A, Dor J, Mashiach S, Gazit E, Madgar I. ''Congenital bilateral absence of vas deferens in the absence of cystic fibrosis.'' Lancet 344: 1473–1474, 1994. PMID 7968122</ref> Some women have fertility difficulties due to thickened cervical mucus or malnutrition. In severe cases, malnutrition disrupts [[ovulation]] and causes [[amenorrhea]].<ref>Gilljam M, Antoniou M, Shin J, Dupuis A, Corey M, Tullis DE. ''Pregnancy in cystic fibrosis. Fetal and maternal outcome.'' Chest. 2000 Jul;118(1):85–91. PMID 10893364</ref> | | [[Category:Up-To-Date]] |
| | [[Category:Gastroenterology]] |
| | [[Category:Pediatrics]] |
| | [[Category:Pulmonology]] |
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| ==References==
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| {{Reflist|2}} | | {{WikiDoc Sources}} |