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{{Cystic fibrosis}}
{{Cystic fibrosis}}
==Overview==
==Overview==
The [[incidence]] of cystic fibrosis is approximately 1 in 2500 livebirths. It is a life-limiting disease (100% mortality rate), and a cure for the disease remains elusive. Most patients with cystic fibrosis are diagnosed in first 2 years of life. The onset of symptoms is before the first month of life in 12%, between 1-6 months of age in 75%, and between 6-12 months of age in 7% of patients. Although cystic fibrosis has been reported in all racial and [[Ethnic group|ethnic groups]], it mostly affects Caucasians of Northern European descent. It affects men and women equally.
==Epidemiology and Demographics==
==Epidemiology and Demographics==
[[Image:autorecessive.jpg|thumb|right|Cystic Fibrosis has an autosomal recessive pattern of inheritance.]]
===Incidence===
 
*The [[incidence]] of cystic fibrosis is approximately 40 in 100,000 live births worldwide.
Cystic fibrosis is the most common life-limiting autosomal recessive disease among people of European heritage. In the United States, approximately 30,000 individuals have CF; most are diagnosed by six months of age. Canada has approximately 3,000 citizens with CF. Approximately 1 in 25 people of European descent and 1 in 22 people of Ashkenazi Jewish descent is a carrier of a cystic fibrosis mutation. Although CF is less common in these groups, approximately 1 in 46 Hispanics, 1 in 65 Africans and 1 in 90 Asians carry at least one abnormal CFTR gene.<ref>Rosenstein BJ and Cutting GR. ''The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel.'' J Pediatr. 1998 Apr;132(4):589-95. Review. PMID 9580754</ref><ref>Hamosh A, Fitz-Simmons SC, Macek M Jr, Knowles MR, Rosenstein BJ, Cutting GR. ''Comparison of the clinical manifestations of cystic fibrosis in black and white patients.'' J Pediatr. 1998 Feb;132(2):255-9. PMID 9506637</ref><ref>Kerem B, Chiba-Falek O, Kerem E. ''Cystic fibrosis in Jews: frequency and mutation distribution.'' Genet Test. 1997;1(1):35-9. Review. PMID 10464623</ref>
*The [[incidence]] of cystic fibrosis is approximately 25 in 100,000 newborns in the US.<ref name="pmid28129811">{{cite journal |vauthors=Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, Sosnay PR |title=Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation |journal=J. Pediatr. |volume=181S |issue= |pages=S4–S15.e1 |date=February 2017 |pmid=28129811 |doi=10.1016/j.jpeds.2016.09.064 |url=}}</ref><ref name="pmid12606185">{{cite journal |vauthors=Ratjen F, Döring G |title=Cystic fibrosis |journal=Lancet |volume=361 |issue=9358 |pages=681–9 |year=2003 |pmid=12606185 |doi=10.1016/S0140-6736(03)12567-6 |url=}}</ref>


Cystic fibrosis is diagnosed in males and females equally. For unclear reasons, males tend to have a longer [[life expectancy]] than females.<ref>Rosenfeld, M, Davis, R, FitzSimmons, S, et al ''Gender gap in cystic fibrosis mortality.'' Am J Epidemiol 1997 145,794–803</ref> Life expectancy for people with CF depends largely upon access to health care. In 1959, the median age of survival of children with cystic fibrosis was six months. In the United States, the life expectancy for infants born in 2006 with CF is 36.8 years, based upon data compiled by the [[Cystic Fibrosis Foundation]].<ref name="median">{{cite web| date = [[April 26]], [[2006]]| url=http://www.cff.org/aboutCFFoundation/NewsEvents/2006NewsArchive/index.cfm?ID=2711&TYPE=1132| title =New Statistics Show CF Patients Living Longer| publisher =[[Cystic Fibrosis Foundation]]| accessdate =2007-12-09}}</ref>
===Prevalence===
*Cystic fibrosis affects more than 30,000 people in the United States and 80,000 people worldwide.<ref name="pmid28441669">{{cite journal |vauthors=Brown SD, White R, Tobin P |title=Keep them breathing: Cystic fibrosis pathophysiology, diagnosis, and treatment |journal=JAAPA |volume=30 |issue=5 |pages=23–27 |date=May 2017 |pmid=28441669 |doi=10.1097/01.JAA.0000515540.36581.92 |url=}}</ref>


The Cystic Fibrosis Foundation also compiles lifestyle information about American adults with CF. In 2004, the foundation reported that 91% had graduated high school and 54% had at least some college education. Employment data revealed 12.6% of adults were disabled and 9.9% were unemployed. Marital information showed that 59% of adults were single and 36% were married or living with a partner. In 2004, 191 American women with CF were pregnant.
===Mortality rate===
*Cystic fibrosis is a life-limiting disease (100% mortality rate), and a cure for the disease remains elusive.<ref name="pmid25764168">{{cite journal |vauthors=Pittman JE, Ferkol TW |title=The Evolution of Cystic Fibrosis Care |journal=Chest |volume=148 |issue=2 |pages=533–542 |date=August 2015 |pmid=25764168 |pmc=4524331 |doi=10.1378/chest.14-1997 |url=}}</ref>


===Theories about the prevalence of CF===
===Age===
The [[ΔF508]] mutation is estimated to be up to 52,000 years old.<ref>Wiuf C. ''Do delta F508 heterozygotes have a selective advantage?'' Genet Res. 2001 Aug;78(1):41-7. PMID 11556136</ref> Numerous hypotheses have been advanced as to why such a lethal mutation has persisted and spread in the human population. Other common autosomal recessive diseases such as [[sickle-cell anemia]] have been found to protect carriers from other diseases, a concept known as [[heterozygote advantage]]. Resistance to the following have all been proposed as possible sources of [[heterozygote advantage]]:
*Most patients with cystic fibrosis are diagnosed in first 2 years of life. The onset of symptoms is before the first month of life in 12%, between 1-6 months of age in 75%, and between 6-12 months of age in 7% of patients.<ref name="pmid20478499">{{cite journal |vauthors=Ernst MM, Johnson MC, Stark LJ |title=Developmental and psychosocial issues in cystic fibrosis |journal=Child Adolesc Psychiatr Clin N Am |volume=19 |issue=2 |pages=263–83, viii |date=April 2010 |pmid=20478499 |pmc=2874200 |doi=10.1016/j.chc.2010.01.004 |url=}}</ref>


* Cholera: With the discovery that [[cholera]] [[toxin]] requires normal host CFTR proteins to function properly, it was hypothesized that carriers of mutant CFTR genes benefited from resistance to cholera and other causes of diarrhea.<ref>Gabriel SE, Brigman KN, Koller BH, Boucher RC, Stutts MJ. ''Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model.'' Science. 1994 Oct 7;266(5182):107-9. PMID 7524148</ref> Further studies have not confirmed this hypothesis.<ref>Cuthbert AW, Halstead J, Ratcliff R, Colledge WH, Evans MJ. ''The genetic advantage hypothesis in cystic fibrosis heterozygotes: a murine study.'' J Physiol. 1995 Jan 15;482 (Pt 2):449-54. PMID 7714835</ref><ref>Hogenauer C, Santa Ana CA, Porter JL, Millard M, Gelfand A, Rosenblatt RL, Prestidge CB, Fordtran JS. ''Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion.'' Am J Hum Genet. 2000 Dec;67(6):1422–7. Epub 2000 Oct 30. PMID 11055897.</ref>
===Race===
* Typhoid: Normal CFTR proteins are also essential for the entry of [[Salmonella typhi]] into cells,<ref>Pier GB, Grout M, Zaidi T, Meluleni G, Mueschenborn SS, Banting G, Ratcliff R, Evans MJ, Colledge WH. ''Salmonella typhi uses CFTR to enter intestinal epithelial cells.'' Nature. 1998 May 7;393(6680):79–82. PMID 9590693</ref> suggesting that carriers of mutant CFTR genes might be resistant to [[typhoid fever]]. No ''in vivo'' study has yet confirmed this. In both cases, the low level of cystic fibrosis outside of Europe, in places where both cholera and typhoid fever are [[endemic (epidemiology)|endemic]], is not immediately explicable.
* Although cystic fibrosis has been reported in all racial and [[Ethnic group|ethnic groups]], it mostly affects Caucasians of Northern European descent.
* Diarrhoea: It has also been hypothesized that the prevalence of CF in Europe might be connected with the development of cattle domestication. In this hypothesis, carriers of a single mutant CFTR chromosome had some protection from diarrhoea caused by [[lactose intolerance]], prior to the appearance of the mutations that created lactose tolerance.<ref>Modiano G, Ciminelli BM, Pignatti PF. ''Cystic Fibrosis: Cystic fibrosis and lactase persistence: a possible correlation.'' Eur J Hum Genet. 2007 Mar;15(3):255-9. PMID: 17180122.</ref>
* Cystic fibrosis is the most [[lethal]] [[Genetic disorder|genetic disease]] among Caucasians
* Tuberculosis: Poolman and Galvani from Yale University have added another possible explanation - that carriers of the gene have some resistance to TB.<ref>[http://www.newscientist.com/article/dn10013-cystic-fibrosis-gene-protect Cystic fibrosis gene protects against tuberculosis]</ref><ref> [http://dx.doi.org/10.1016/j.cub.2006.09.009 Footprint fears for new TB threat]</ref>
* Cystic fibrosis is approximately reported in different [[Ethnic group|ethnic groups]] as follow:<ref name="pmid25083129">{{cite journal |vauthors=Pettit RS, Fellner C |title=CFTR Modulators for the Treatment of Cystic Fibrosis |journal=P T |volume=39 |issue=7 |pages=500–11 |date=July 2014 |pmid=25083129 |pmc=4103577 |doi= |url=}}</ref><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>
{|
! colspan="2" style="background: #4479BA; text-align: center;" |{{fontcolor|#FFF|'''Prevalence of cystic fibrosis according to race'''}}
|-
! style="background: #7d7d7d; text-align: center;" + |{{fontcolor|#FFF|'''Race'''}}
! style="background: #7d7d7d; text-align: center;" + |{{fontcolor|#FFF|'''Prevalence (per 100,000 person years)'''}}
|-
| style="background: #DCDCDC; text=align: center;" + |'''Caucasian'''
| style="background: #F5F5F5; text=align: center;" + | 40
|-
| style="background: #DCDCDC; text=align: center;" + |'''Hispanic'''
| style="background: #F5F5F5; text=align: center;" + | 7.4
|-
| style="background: #DCDCDC; text=align: center;" + |'''African-American'''
| style="background: #F5F5F5; text=align: center;" + | 6.6
|}


===Gender===
*Cystic fibrosis affects men and women equally. Women with cystic fibrosis have a shortened [[life expectancy]] compared to men.<ref name="pmid25495366">{{cite journal |vauthors=Harness-Brumley CL, Elliott AC, Rosenbluth DB, Raghavan D, Jain R |title=Gender differences in outcomes of patients with cystic fibrosis |journal=J Womens Health (Larchmt) |volume=23 |issue=12 |pages=1012–20 |date=December 2014 |pmid=25495366 |pmc=4442553 |doi=10.1089/jwh.2014.4985 |url=}}</ref>
==References==
==References==
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Latest revision as of 20:34, 29 March 2018


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]

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Overview

The incidence of cystic fibrosis is approximately 1 in 2500 livebirths. It is a life-limiting disease (100% mortality rate), and a cure for the disease remains elusive. Most patients with cystic fibrosis are diagnosed in first 2 years of life. The onset of symptoms is before the first month of life in 12%, between 1-6 months of age in 75%, and between 6-12 months of age in 7% of patients. Although cystic fibrosis has been reported in all racial and ethnic groups, it mostly affects Caucasians of Northern European descent. It affects men and women equally.

Epidemiology and Demographics

Incidence

  • The incidence of cystic fibrosis is approximately 40 in 100,000 live births worldwide.
  • The incidence of cystic fibrosis is approximately 25 in 100,000 newborns in the US.[1][2]

Prevalence

  • Cystic fibrosis affects more than 30,000 people in the United States and 80,000 people worldwide.[3]

Mortality rate

  • Cystic fibrosis is a life-limiting disease (100% mortality rate), and a cure for the disease remains elusive.[4]

Age

  • Most patients with cystic fibrosis are diagnosed in first 2 years of life. The onset of symptoms is before the first month of life in 12%, between 1-6 months of age in 75%, and between 6-12 months of age in 7% of patients.[5]

Race

  • Although cystic fibrosis has been reported in all racial and ethnic groups, it mostly affects Caucasians of Northern European descent.
  • Cystic fibrosis is the most lethal genetic disease among Caucasians
  • Cystic fibrosis is approximately reported in different ethnic groups as follow:[6][7]
Prevalence of cystic fibrosis according to race
Race Prevalence (per 100,000 person years)
Caucasian 40
Hispanic 7.4
African-American 6.6

Gender

  • Cystic fibrosis affects men and women equally. Women with cystic fibrosis have a shortened life expectancy compared to men.[8]

References

  1. ↑ Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, Sosnay PR (February 2017). "Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation". J. Pediatr. 181S: S4–S15.e1. doi:10.1016/j.jpeds.2016.09.064. PMID 28129811.
  2. ↑ Ratjen F, Döring G (2003). "Cystic fibrosis". Lancet. 361 (9358): 681–9. doi:10.1016/S0140-6736(03)12567-6. PMID 12606185.
  3. ↑ Brown SD, White R, Tobin P (May 2017). "Keep them breathing: Cystic fibrosis pathophysiology, diagnosis, and treatment". JAAPA. 30 (5): 23–27. doi:10.1097/01.JAA.0000515540.36581.92. PMID 28441669.
  4. ↑ Pittman JE, Ferkol TW (August 2015). "The Evolution of Cystic Fibrosis Care". Chest. 148 (2): 533–542. doi:10.1378/chest.14-1997. PMC 4524331. PMID 25764168.
  5. ↑ Ernst MM, Johnson MC, Stark LJ (April 2010). "Developmental and psychosocial issues in cystic fibrosis". Child Adolesc Psychiatr Clin N Am. 19 (2): 263–83, viii. doi:10.1016/j.chc.2010.01.004. PMC 2874200. PMID 20478499.
  6. ↑ Pettit RS, Fellner C (July 2014). "CFTR Modulators for the Treatment of Cystic Fibrosis". P T. 39 (7): 500–11. PMC 4103577. PMID 25083129.
  7. ↑ 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.
  8. ↑ Harness-Brumley CL, Elliott AC, Rosenbluth DB, Raghavan D, Jain R (December 2014). "Gender differences in outcomes of patients with cystic fibrosis". J Womens Health (Larchmt). 23 (12): 1012–20. doi:10.1089/jwh.2014.4985. PMC 4442553. PMID 25495366.


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