Isifo seMarfan

IMarfan syndrome ukuphazamiseka kwezicubu ezixhuma. Lezi izicubu eziqinisa ukwakheka komzimba.

Ukuphazamiseka kwezicubu ezixhuma kuthinta uhlelo lwamathambo, uhlelo lwezinhliziyo, amehlo nesikhumba.

I-Marfan syndrome ibangelwa ukukhubazeka esakhiweni sofuzo esibizwa nge-fibrillin-1. I-Fibrillin-1 idlala indima ebalulekile njengebhulokhi yokwakha izicubu ezixhuma emzimbeni.

Ukukhubazeka kwezakhi zofuzo kubangela nokuthi amathambo omzimba omude akhule kakhulu. Abantu abanalesi sifo banokuphakama okude nezingalo nemilenze emide. Ukuthi lokhu kukhula ngokweqile kwenzeka kanjani akuqondakali kahle.

Ezinye izindawo zomzimba ezithintekile zifaka:

• Izicubu zomzimba (kungahle kube ne-pneumothorax, lapho umoya ungaphuma khona emaphashini ungene emgodini wesifuba bese ugoqa iphaphu)
• I-aorta, isitsha segazi esiyinhloko esisusa igazi lisuke enhliziyweni liye emzimbeni singelula noma sibe buthakathaka (okubizwa ngokuthi yi-aortic dilation noma i-aortic aneurysm)
• Amaphayiphu enhliziyo
• Amehlo, abangela i-cataract nezinye izinkinga (njengokuhlukaniswa kwamalensi)
• Isikhumba
• Izicubu ezihlanganisa umgogodla
• Amalunga

Ezimweni eziningi, iMarfan syndrome idluliselwa emindenini (ezuzwe njengefa). Kodwa-ke, kuze kufike ku-30% wabantu abanawo umlando womndeni, obizwa nge- "sporadic." Ezimweni ezithile ngezikhathi ezithile, i-syndrome kukholakala ukuthi ibangelwa ukuguqulwa okusha kofuzo.

Abantu abane-Marfan syndrome bavame ukuba bade ngezingalo nemilenze emide, emincane neminwe efana nezicabucabu (ebizwa ngokuthi i-arachnodactyly). Ubude bezingalo bukhulu kunokuphakama lapho izingalo zolulwa.

Ezinye izimpawu zifaka:

• Isifuba esizika noma sinamathele, esibizwa nge-funnel chest (pectus excavatum) noma isifuba sejuba (pectus carinatum)
• Izinyawo eziphansi
• Ulwanga oluphakeme kakhulu namazinyo aminyene
• I-Hypotonia
• Amalungu aguquguquka kalula (kepha izindololwane zingase zingabi bhetyebhetye)
• Ukukhubazeka kokufunda
• Ukuhamba kwelensi yeso ukusuka endaweni yalo ejwayelekile (ukuhlukaniswa)
• Ukubona eduze
• Umhlathi omncane ophansi (micrognathia)
• Umgogodla ojika ohlangothini olulodwa (scoliosis)
• Ubuso obuncane, obuncane

Abantu abaningi abane-Marfan syndrome bahlushwa yisisu esibuhlungu nobuhlungu obuhlangene.

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba. Amalunga angazungeza ngaphezu kokujwayelekile. Kungase kube khona izimpawu ze:

• I-Aneurysm
• Iphaphu eliwile
• Izinkinga ze-valve yenhliziyo

Ukuhlolwa kwamehlo kungakhombisa:

• Amaphutha welensi noma i-cornea
• Ukuhlukaniswa kwe-retinal
• Izinkinga zombono

Ukuhlolwa okulandelayo kungenziwa:

• I-Echocardiogram
• Ukuhlolwa kwezinguquko ze-Fibrillin-1 (kwabanye abantu)

I-echocardiogram noma olunye uvivinyo kufanele lwenziwe minyaka yonke ukubheka isisekelo se-aorta futhi mhlawumbe ama-valve enhliziyo.

Izinkinga zombono kufanele zilashwe lapho kunokwenzeka.

Ukuqapha i-scoliosis, ikakhulukazi phakathi neminyaka yentsha.

Imithi yokwehlisa izinga lokushaya kwenhliziyo nomfutho wegazi ophansi kungasiza ekuvimbeleni ukucindezeleka ku-aorta. Ukugwema ukulimaza i-aorta, abantu abanesimo kungadingeka ukuthi bashintshe imisebenzi yabo. Abanye abantu bangadinga ukuhlinzwa ukuze bathathe indawo yempande ne-valve.

Abesifazane abakhulelwe abane-Marfan syndrome kumele babhekwe eduze kakhulu ngenxa yokukhuphuka kwengcindezi enhliziyweni nase-aorta.

INational Marfan Foundation - www.marfan.org

Izinkinga ezihlobene nenhliziyo zinganciphisa impilo yabantu abanalesi sifo. Kodwa-ke, abantu abaningi baphila eminyakeni engama-60 nangaphezulu. Ukunakekelwa okuhle nokuhlinzwa kungaphinde kwandise isikhathi sokuphila.

Izinkinga zingafaka:

• Ukuvuselelwa kabusha kwe-aortic
• Ukuqhekeka kwe-aortic
• I-endocarditis yebhaktheriya
• Ukuhlakaza i-aortic aneurysm
• Ukwandiswa kwesisekelo se-aorta
• Ukwehluleka kwenhliziyo
• I-Mitral valve prolapse
• I-Scoliosis
• Izinkinga zombono

Imibhangqwana enalesi simo futhi ehlela ukuba nezingane ingahle ifune ukukhuluma nomeluleki wezofuzo ngaphambi kokuqala umndeni.

Ukuguquguquka okusha okuzenzakalelayo okuholela eMarfan (ngaphansi kwengxenye eyodwa kwezintathu zamacala) akunakuvinjelwa. Uma une-Marfan syndrome, bheka umhlinzeki wakho okungenani kanye ngonyaka.

I-aortic aneurysm - uMarfan

• I-Pectus excavatum
• Isifo seMarfan

UDoyle JJ, uDoyle AJ, uDietz HC. Isifo seMarfan. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 722.

IMadan-Khetarpal S, i-Arnold G.Izinkinga zofuzo nezimo ze-dysmorphic. Ku: Zitelli, BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 1.

UPyeritz RE. Izifo ezizuze njengefa zezicubu ezixhuma. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 244.