Marfan chirwere

Marfan syndrome kusagadzikana kwekubatana matissue. Iyi ndiyo nyama inosimbisa zvimiro zvemuviri.

Kuvhiringidzika kwetiketiki inobatanidza kunokanganisa maronda, yemwoyo system, maziso, uye ganda.

Marfan syndrome inokonzerwa nehurema mune geni inonzi fibrillin-1. Fibrillin-1 inoita basa rakakosha seyakavakisa matishu akabatana mumuviri.

Kuremara kwemajini kunokonzeresa kuti mapfupa marefu emuviri akure zvakanyanya. Vanhu vane chirwere ichi vane hurefu hwakareba uye marefu maoko nemakumbo. Kuti kukura uku kunoitika sei hakunzwisiswe.

Dzimwe nzvimbo dzomuviri dzinokanganiswa dzinosanganisira:

• Lung tishu (panogona kunge paine pneumothorax, umo mweya unogona kupunyuka kubva mumapapu uchipinda muchipfuva mhino ndokudonha mapapu)
• Iyo aorta, iyo yeropa huru inotora ropa kubva pamoyo kuenda kumuviri inogona kutambanuka kana kushaya simba (inonzi aortic dilation kana aortic aneurysm)
• Moyo unovhara
• Maziso, achikonzera maziso uye mamwe matambudziko (sekubviswa kwemalensi)
• Ganda
• Nyama yakavhara musana
• Majoini

Muzviitiko zvakawanda, Marfan syndrome inopfuudzwa kuburikidza nemhuri (nhaka). Nekudaro, kusvika pamakumi matatu muzana yevanhu havana nhoroondo yemhuri, iyo inonzi "zvishoma nezvishoma." Muzviitiko zveapo neapo, iyo syndrome inofungidzirwa kuti inokonzerwa neshanduko nyowani.

Vanhu vane Marfan syndrome vanogara vakareba vaine maoko akareba, matete nemakumbo uye segonzo-seminwe (inonzi arachnodactyly). Kureba kwemaoko kwakakura kudarika kukwirira kana maoko akatambanudzwa.

Zvimwe zviratidzo zvinosanganisira:

• Chifuva chinonyura mukati kana kunamatira kunze, chinonzi fanel chest (pectus excavatum) kana hangaiwa zamu (pectus carinatum)
• Tsoka dzakatsetseka
• Yakanyanya arched palate uye yakazara vanhu mazino
• Hypotonia
• Majoini anonyanyo kuchinjika (asi iwo magokora anogona kushomeka)
• Kudzidza kuremara
• Kufamba kweiyo lens yeziso kubva panzvimbo yaro yakajairika (dislocation)
• Nearsightedness
• Shaya shoma shoma (micrognathia)
• Mutsara unotenderera kune rumwe rutivi (scoliosis)
• Mutete, kumeso kumeso

Vanhu vazhinji vane Marfan syndrome vanotambura nekusingaperi kwemhasuru uye kurwadziwa kwekubatana.

Anopa hutano anoita bvunzo dzepanyama. Iwo majoini anogona kufamba achitenderera kupfuura zvakajairwa. Panogona zvakare kuve nezviratidzo zve:

• Aneurysm
• Mapapu akadonha
• Matambudziko emagetsi emoyo

Kuongorora kweziso kunogona kuratidza:

• Kukanganisa kweiyo lens kana cornea
• Retinal boka
• Matambudziko ekuona

Iyi bvunzo inotevera inogona kuitwa:

• Echocardiogram
• Fibrillin-1 mutation kuyedza (mune vamwe vanhu)

Echocardiogram kana imwe bvunzo inofanirwa kuitwa gore rega rega kutarisa pazasi peaorta uye pamwe nemagetsi emoyo.

Zvinetso zvekuona zvinofanirwa kurapwa pazvinogoneka.

Chengetedza scoliosis, kunyanya mukati memakore ekuyaruka.

Mushonga wekudzora kurova kwemoyo uye kudzikira kweropa kunogona kubatsira kudzivirira kushushikana pane aorta. Kuti udzivise kukuvadza iyo aorta, vanhu vane mamiriro angave ekugadzirisa mabasa avo. Vamwe vanhu vangangoda kuvhiyiwa kutsiva aortic midzi uye vharafu.

Vakadzi vane nhumbu vane Marfan syndrome vanofanirwa kutariswa zvakanyanya nekuda kwekuwedzera kwekushushikana pamoyo uye aorta.

National Marfan Foundation - www.marfan.org

Zvinetso zvine chekuita nemoyo zvinogona kupfupisa hupenyu hwevanhu vane chirwere ichi. Zvisinei, vanhu vazhinji vanogara mukati mavo 60s uye kupfuura. Kuchengetwa kwakanaka uye kuvhiyiwa kunogona kuwedzera kuwedzera hupenyu.

Zvinetso zvinogona kusanganisira:

• Aortic kudzoka
• Kuparara kweortort
• Hutachiona endocarditis
• Kuparadzira aortic aneurysm
• Kuwedzera kwechigadziko cheaorta
• Kutadza kwemoyo
• Mitral vharuvhu inowedzera
• Scoliosis
• Matambudziko ekuona

Vakaroorana vane chirwere ichi uye vari kuronga kuita vana vangangoda kutaura kuna baba chipangamazano vasati vatanga mhuri.

Zvingangoitika zvega geni shanduko inotungamira kuMarfan (isingasviki chetatu chezviitiko) haigone kudzivirirwa. Kana iwe uine Marfan syndrome, ona wako mupi kamwe kamwe pagore.

Aortic aneurysm - Marfan

• Pectus excavatum
• Marfan chirwere

Doyle JJ, Doyle AJ, Dietz HC. Marfan chirwere. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 722.

Madan-Khetarpal S, Arnold G. Matambudziko eGenetic uye mamiriro edysmorphic. Mune: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. Zitelli naDavis 'Atlas yePediatric Kuziva. 7th ed. Philadelphia, PA: Elsevier; 2018: chits. 1.

Pyeritz RE. Nhaka yezvirwere zvezvibatanidza. Mune: Goldman L, Schafer AI, eds. Goldman-Cecil Mushonga. 26th ed. Philadelphia, PA: Elsevier; 2020: chitsama 244.