Umukoresha:RebeccaRwanda/Indwara ya Williams
| Williams syndrome | |
|---|---|
| Other names: Williams–Beuren syndrome (WBS) | |
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| Two men, age 21 and 28, displaying several of the facial features characteristic of Williams syndrome.[1] | |
 | |
| Specialty | Medical genetics, pediatrics |
| Ibimenyetso | Facial changes, intellectual disability, overly friendly nature, short height[2] |
| Complications | Heart problems, periods of high blood calcium[2][3] |
| Duration | Lifelong[2] |
| Causes | Genetic[2] |
| Differential diagnosis | Noonan syndrome, fetal alcohol syndrome, DiGeorge syndrome[2] |
| Treatment | Various types of therapy[2] |
| Prognosis | Shorter life expectancy[4] |
| Frequency | 1 in 7,500 to 1 in 20,000[5] |
| Inyandikorugero:Ubl | |
Indwara ya Williams ( WS ) ni indwara ikomoka ku ngirabuzimafatizo yibasira ibice byinshi by'umubiri.[3] Ibiranga isura bikunze gushiramo uruhanga runini, izuru rigufi n'amatama yuzuye, isura yasobanuwe nka "elfin".[3][5] Mugihe ubumuga bworoheje bworoheje buringaniye hamwe nibibazo byihariye hamwe nibikorwa bigaragara nko gushushanya ni ibisanzwe, ubuhanga bwo kuvuga ntibusanzwe.[3] Ababigizemo uruhare akenshi bafite imico isohoka, bagasabana byoroshye nabantu batazi, kandi bagaragara ko bishimye.[3][5] Ibibazo bifite amenyo, ibibazo byumutima (cyane cyane supravalvular aortic stenosis ), nibihe bya calcium yamaraso menshi birasanzwe.[2][3]
Indwara ya Williams iterwa n uruhererekane rudasanzwe, cyane cyane gusiba genes zigera kuri 27 ziva mumaboko maremare ya imwe muri chromosome 7s.[3][5] Mubisanzwe ibi bibaho nkibintu bidasanzwe mugihe cyo gukora amagi cyangwa intanga ngabo umuntu akura.[3] Mumubare muto wimanza, yarazwe numubyeyi wagize ingaruka muburyo bwigenga.[3] Ibintu bitandukanye biranga byahujwe no gutakaza ingirabuzima fatizo.[3] Isuzuma risanzwe rikekwa hashingiwe ku bimenyetso kandi byemejwe no gupima geneti.[2]
Ubuvuzi bukubiyemo gahunda zidasanzwe zo kwigisha hamwe nuburyo butandukanye bwo kuvura.[2] Kubaga bishobora gukorwa kugirango bikosore ibibazo byumutima.[2] Guhindura imirire cyangwa imiti bishobora gukenerwa kubafite ubutare bwinshi mumaraso [2] Indwara ya syndrome yasobanuwe bwa mbere mu 1961 na Nouvelle-Zélande John CP Williams.[6] Indwara ya Williams yibasira abantu 1 kuri 7.500 kugeza 1 kuri 20.000 bavutse.[5] Icyizere cyo kubaho ni gito ugereranije n'abaturage muri rusange, ahanini biterwa n'ubwiyongere bw'indwara z'umutima.[4]
Reba
[Hindura | hindura inkomoko]- ↑ Nikitina, EA; Medvedeva, AV; Zakharov, GA; Savvateeva-Popova, EV (January 2014). "Williams syndrome as a model for elucidation of the pathway genes - the brain - cognitive functions: genetics and epigenetics". Acta Naturae. 6 (1): 9–22. doi:10.32607/20758251-2014-6-1-9-22. PMC 3999462. PMID 24772323.
- 1 2 3 4 5 6 7 8 9 10 11 Morris, CA; Pagon, RA; Adam, MP; Ardinger, HH; Wallace, SE; Amemiya, A; Bean, LJH; Bird, TD; Ledbetter, N; Mefford, HC; Smith, RJH; Stephens, K (2013). "Williams Syndrome". GeneReviews. PMID 20301427.
- 1 2 3 4 5 6 7 8 9 10 Reference, Genetics Home (December 2014). "Williams syndrome". Genetics Home Reference (in Icyongereza). Archived from the original on 20 January 2017. Retrieved 22 January 2017.
- 1 2 Riccio, Cynthia A.; Sullivan, Jeremy R.; Cohen, Morris J. (2010). Neuropsychological Assessment and Intervention for Childhood and Adolescent Disorders (in Icyongereza). John Wiley & Sons. p. 400. ISBN 9780470570333. Archived from the original on 2020-03-27. Retrieved 2017-09-18.
- 1 2 3 4 5 Martens, Marilee A.; Wilson, Sarah J.; Reutens, David C. (2008). "Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype". Journal of Child Psychology and Psychiatry. 49 (6): 576–608. doi:10.1111/j.1469-7610.2008.01887.x. PMID 18489677.
- ↑ Lenhoff, Howard M.; Teele, Rita L.; Clarkson, Patricia M.; Berdon, Walter E. (2010). "John C. P. Williams of Williams-Beuren syndrome". Pediatric Radiology. 41 (2): 267–9. doi:10.1007/s00247-010-1909-y. PMID 21107555.