Neurofibromatosis type 1 epidemiology and demographics: Difference between revisions
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{{CMG}}; {{AE}} [[User:MoisesRomo|Moises Romo M.D.]] | {{CMG}}; {{AE}} [[User:MoisesRomo|Moises Romo M.D.]] | ||
==Overview== | ==Overview== | ||
Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about | Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide.<ref name="urlNeurofibromatosis - Orthopaedics and Trauma">{{cite web |url=https://www.orthopaedicsandtraumajournal.co.uk/article/S1877-1327(15)00017-2/fulltext |title=Neurofibromatosis - Orthopaedics and Trauma |format= |work= |accessdate=}}</ref> | ||
Older paternal age may increase the chances for de novo mutations in NF1 gene.<ref name="pmid282300612">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid9358268">{{cite journal |vauthors=Bunin GR, Needle M, Riccardi VM |title=Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues |journal=Genet. Epidemiol. |volume=14 |issue=5 |pages=507–16 |date=1997 |pmid=9358268 |doi=10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y |url=}}</ref><ref name="pmid22302476">{{cite journal |vauthors=Snajderova M, Riccardi VM, Petrak B, Zemkova D, Zapletalova J, Mardesic T, Petrakova A, Lanska V, Marikova T, Bendova S, Havlovicova M, Kaluzova M |title=The importance of advanced parental age in the origin of neurofibromatosis type 1 |journal=Am. J. Med. Genet. A |volume=158A |issue=3 |pages=519–23 |date=March 2012 |pmid=22302476 |doi=10.1002/ajmg.a.34413 |url=}}</ref> | Older paternal age may increase the chances for de novo mutations in NF1 gene.<ref name="pmid282300612">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid9358268">{{cite journal |vauthors=Bunin GR, Needle M, Riccardi VM |title=Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues |journal=Genet. Epidemiol. |volume=14 |issue=5 |pages=507–16 |date=1997 |pmid=9358268 |doi=10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y |url=}}</ref><ref name="pmid22302476">{{cite journal |vauthors=Snajderova M, Riccardi VM, Petrak B, Zemkova D, Zapletalova J, Mardesic T, Petrakova A, Lanska V, Marikova T, Bendova S, Havlovicova M, Kaluzova M |title=The importance of advanced parental age in the origin of neurofibromatosis type 1 |journal=Am. J. Med. Genet. A |volume=158A |issue=3 |pages=519–23 |date=March 2012 |pmid=22302476 |doi=10.1002/ajmg.a.34413 |url=}}</ref> | ||
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===Case-fatality rate/Mortality rate=== | ===Case-fatality rate/Mortality rate=== | ||
Neurofibromatosis type 1decreases life expectancy in approximately 15-20 years from a normal person.<ref name="pmid11283797">{{cite journal |vauthors=Rasmussen SA, Yang Q, Friedman JM |title=Mortality in neurofibromatosis 1: an analysis using U.S. death certificates |journal=Am. J. Hum. Genet. |volume=68 |issue=5 |pages=1110–8 |date=May 2001 |pmid=11283797 |pmc=1226092 |doi=10.1086/320121 |url=}}</ref><ref name="pmid214390342" /> | |||
Of the nearly 6.75 million deaths in the study period, 632 had a diagnosis of NF1, yet for nearly three-fourths of them the underlying cause was not coded as neurofibromatosis.<ref name="pmid214390342">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref> | |||
*In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate/mortality rate of [number range]%. | *In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate/mortality rate of [number range]%. | ||
*The case-fatality rate/mortality rate of [disease name] is approximately [number range]. | *The case-fatality rate/mortality rate of [disease name] is approximately [number range]. | ||
| Line 47: | Line 51: | ||
===Developing Countries=== | ===Developing Countries=== | ||
Many countries lack a proper electronic patient record, so many times, researcher have to rely on death certificates and non-population-based cohorts to estimate risks.<ref name="pmid28230061" /> | Many countries lack a proper electronic patient record, so many times, researcher have to rely on death certificates and non-population-based cohorts to estimate risks.<ref name="pmid28230061" /><ref name="pmid21439034">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref> | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.
Overview
Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide.[1]
Older paternal age may increase the chances for de novo mutations in NF1 gene.[2][3][4]
Epidemiology and Demographics
Incidence
- The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
- In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
Prevalence
- The prevalence of neurofibromatosis is approximately 33.33 per 100,000 individuals worldwide.[5][6]
- Prevalence can can vary from one country to another, beign 104.1 per 100,000 individuals in Israel to 12.8 per 100,000 individuals in Russia.[5][6]
- In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
- The prevalence of [disease/malignancy] is estimated to be [number] cases annually.
Case-fatality rate/Mortality rate
Neurofibromatosis type 1decreases life expectancy in approximately 15-20 years from a normal person.[7][8]
Of the nearly 6.75 million deaths in the study period, 632 had a diagnosis of NF1, yet for nearly three-fourths of them the underlying cause was not coded as neurofibromatosis.[8]
- In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate/mortality rate of [number range]%.
- The case-fatality rate/mortality rate of [disease name] is approximately [number range].
Age
- Patients of all age groups may develop [disease name].
- The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
- [Disease name] commonly affects individuals younger than/older than [number of years] years of age.
- [Chronic disease name] is usually first diagnosed among [age group].
- [Acute disease name] commonly affects [age group].
Race
- There is no racial predilection to [disease name].
- [Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
Gender
- [Disease name] affects men and women equally.
- [Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
Region
- The majority of [disease name] cases are reported in [geographical region].
- [Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
Developed Countries
Developing Countries
Many countries lack a proper electronic patient record, so many times, researcher have to rely on death certificates and non-population-based cohorts to estimate risks.[5][12]
_CausesOne of the potential etiologies for non-familial Neurofibromatosis Type 1 (NF1) is increasing parental age. We sought to evaluate recent evidence for parental age effects in NF1 in a large study. Individuals with NF1 and a comparison group from the U.S. general population born between 1994 and 2012 were ascertained from the NF1 Patient Registry Initiative (NPRI) and the National Center for Vital Statistics, respectively.[13][5]
Sporadic neurofibromatosis 1 (NF1) occurs in the absence of a family history of the disease and usually results from a new mutation in the germ cell of one of the parents, most commonly the father.[3][5]
50% of cases of neurofibromatosis type 1 are familial (inherited) and the remainder arise from a de novo NF1 mutation.[5][14]
References
- ↑ "Neurofibromatosis - Orthopaedics and Trauma".
- ↑ Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ 3.0 3.1 Bunin GR, Needle M, Riccardi VM (1997). "Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues". Genet. Epidemiol. 14 (5): 507–16. doi:10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y. PMID 9358268.
- ↑ Snajderova M, Riccardi VM, Petrak B, Zemkova D, Zapletalova J, Mardesic T, Petrakova A, Lanska V, Marikova T, Bendova S, Havlovicova M, Kaluzova M (March 2012). "The importance of advanced parental age in the origin of neurofibromatosis type 1". Am. J. Med. Genet. A. 158A (3): 519–23. doi:10.1002/ajmg.a.34413. PMID 22302476.
- ↑ 5.0 5.1 5.2 5.3 5.4 5.5 5.6 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ 6.0 6.1 Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S (March 2015). "Incidence and mortality of neurofibromatosis: a total population study in Finland". J. Invest. Dermatol. 135 (3): 904–906. doi:10.1038/jid.2014.465. PMID 25354145.
- ↑ Rasmussen SA, Yang Q, Friedman JM (May 2001). "Mortality in neurofibromatosis 1: an analysis using U.S. death certificates". Am. J. Hum. Genet. 68 (5): 1110–8. doi:10.1086/320121. PMC 1226092. PMID 11283797.
- ↑ 8.0 8.1 Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.
- ↑ Poyhonen M, Kytölä S, Leisti J (August 2000). "Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland". J. Med. Genet. 37 (8): 632–6. doi:10.1136/jmg.37.8.632. PMC 1734645. PMID 10991696.
- ↑ "Europe PMC, Europe PMC".
- ↑ Samuelsson B, Axelsson R (1981). "Neurofibromatosis. A clinical and genetic study of 96 cases in Gothenburg, Sweden". Acta Derm Venereol Suppl (Stockh). 95: 67–71. PMID 6807042.
- ↑ Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.
- ↑
- ↑ McKeever K, Shepherd CW, Crawford H, Morrison PJ (September 2008). "An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age". Ulster Med J. 77 (3): 160–3. PMC 2604471. PMID 18956796.