Syndrome Marfan
| Marfan syndrome | |
|---|---|
| Anarana hafa: Marfan's syndrome | |
 | |
| A positive wrist sign in a person with Marfan syndrome (the thumb and little finger overlap when grasping the wrist of the opposite hand)[1] | |
 | |
| Manam-pahaizana manokana momba ny | Medical genetics |
| Soritr'aretina | Tall, thin build; long arms, legs and fingers; flexible fingers and toes[2] |
| Faharetana | Long term[2] |
| Antony | Genetic (autosomal dominant)[2] |
| Diagnostika | Molecular testing, Ghent criteria[3] |
| Diagnostika samihafa | Loeys–Dietz syndrome, Congenital contractural arachnodactyly, Ehlers–Danlos syndrome, Homocystinuria, MASS phenotype, Stickler syndrome[3] |
| Fanafody | Beta blockers, calcium channel blockers, ACE inhibitors[4][5] |
| Fizotrany | Often normal life expectancy[2] |
| Hatetika | 1 in 5,000–10,000[4] |
Ny Marfan syndrome (MFS) dia aretina ara-pandovan-toetra mahakasika ny sela mpampitohy (tissu conjonctif), izay manome firafitra sy fanohanana ny taova maro ao amin’ny vatana. [1]
Ny olona voan’ity aretina ity dia matetika lava sy mahia, ary manana sandry, tongotra, rantsantanana ary rantsan-tongotra lava (arachnodactylie). [1] Matetika koa izy ireo no manana tonon-taolana malefaka loatra (hypermobilité articulaire) sy fiolahana tsy ara-dalàna amin’ny hazondamosina (scoliose). [1]
Ny fahasarotana lehibe indrindra dia mahakasika ny rafi-pitatitra amin’ny fo sy ny lalan-drà lehibe, indrindra ny aorta. Mety hitombo ny mety hisian’ny mitral valve prolapse sy ny aneurysma aorta, izay mety hiteraka fahatapahan’ny lalan-drà raha tsy voatsabo. [1][2]
Ankoatra izany, mety hisy fiantraikany amin’ny taova hafa ihany koa ny aretina, toy ny havokavoka, ny maso, ny taolana, ary ny fonon’ny hazondamosina (dura mater). [1] Miovaova be arakaraka ny olona ny hamafin’ny soritr’aretina sy ny fivoaran’ny aretina.
Ny Marfan syndrome (MFS) dia vokatry ny fiovan’ny fototarazo ao amin’ny FBN1, izay fototarazo tompon’andraikitra amin’ny famokarana fibrilline, singa iray manan-danja amin’ny firafitry ny sela mpampitohy. [1] Io fiovana ara-génetika io no mahatonga ny sela mpampitohy ho tsy ara-dalàna sy malemy kokoa.
Aretina autosomal dominant ny Marfan syndrome, midika fa ampy ny kopia iray amin’ny fototarazo voaova mba hisehoan’ny aretina. [1] Amin’ny ankapobeny, manodidina ny 75 % amin’ny tranga dia avy amin’ny lova avy amin’ny ray na reny efa voan’ny aretina, raha 25 % kosa dia vokatry ny fiovan’ny fototarazo vaovao (mutation de novo). [1]
Ny fitiliana dia azo atao amin’ny alalan’ny fitiliana molekiola (molecular testing) na amin’ny fampiharana ny fepetra Ghent, izay rafitra klinika ampiasaina hanamarinana ny diagnosy. [2][3]
Tsy misy fanafody fantatra ho an'ny MFS.[2] Maro amin'ireo voan'io aretina io no manana androm-piainana ara-dalàna raha toa ka tsaboina tsara.[2] Matetika ny fitsaboana dia ahitana ny fampiasana beta blockers toy ny propranolol na atenolol na, raha tsy leferina dia calcium channel blockers na ACE inhibitors.[4][5] Mety ilaina ny fandidiana mba hanamboarana ny aorta na hanoloana ny valva fo.[5] Amporisihina ny tsy hanao fanatanjahan-tena mafy.[4]
Eo amin'ny 1 amin'ny 5.000 ka hatramin'ny 1 amin'ny 10.000 eo ho eo ny olona voan'ny MFS.[4][6] Mitovy ny fitrangan'izany amin'ny lehilahy sy ny vehivavy.[4] Mitovy ny tahan'ny tranga eo amin'ny foko samihafa sy any amin'ny faritra samihafa eto amin'izao tontolo izao.[6] Nomena anarana avy amin'ny dokoteran-jaza frantsay Antoine Marfan izy io, izay nilazalaza azy voalohany tamin'ny 1896.[7][8]
References
[hanova | hanova ny fango]- ↑ Staufenbiel, Ingmar; Hauschild, Christian; Kahl-Nieke, Bärbel; Vahle-Hinz, Eva; von Kodolitsch, Yskert; Berner, Maike; Bauss, Oskar; Geurtsen, Werner et al. (2013-01-01). "Periodontal conditions in patients with Marfan syndrome - a multicenter case control study". BMC Oral Health 13: 59. doi:10.1186/1472-6831-13-59. ISSN 1472-6831. PMC 3816571. PMID 24165013. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3816571.
- 1 2 3 4 5 6 "What Is Marfan Syndrome?". NHLBI, NIH. October 1, 2010. Archived from the original on 6 May 2016. Retrieved 16 May 2016.
- 1 2 Hadisoan-tsiahy: Balise
<ref>incorrecte : aucun texte n’a été fourni pour les références nomméesZitelli2023 - 1 2 3 4 5 6 "Marfan Syndrome". National Organization for Rare Disorders. 2017. Archived from the original on 12 November 2019. Retrieved 5 November 2016.
- 1 2 3 "How Is Marfan Syndrome Treated?". NHLBI, NIH. October 1, 2010. Archived from the original on 11 June 2016. Retrieved 16 May 2016.
- 1 2 "Medical management of Marfan syndrome". Circulation 117 (21): 2802–13. 2008. doi:10.1161/CIRCULATIONAHA.107.693523. PMID 18506019. "estimated prevalence of 1 case per 3000 to 5000 individuals"
- ↑ Marfan, Antoine (1896). "Un cas de déformation congénitale des quartre membres, plus prononcée aux extrémitiés, caractérisée par l'allongement des os avec un certain degré d'amincissement [A case of congenital deformation of the four limbs, more pronounced at the extremities, characterized by elongation of the bones with some degree of thinning]" (in fr). Bulletins et Memoires de la Société Medicale des Hôspitaux de Paris 13 (3rd series): 220–226.
- ↑ "Antoine Bernard-Jean Marfan". Whonamedit?. Archived from the original on 8 March 2016. Retrieved 16 May 2016.