Isifo seMarfan

IMarfan syndrome kukuphazamiseka kwezicubu ezinxibelelanayo. Esi sisihlunu esiqinisa ukwakheka komzimba.

Ukuphazamiseka kwezicubu ezinxibelelanayo kuchaphazela inkqubo yamathambo, inkqubo yentliziyo, amehlo kunye nolusu.

Isifo seMarfan sibangelwa ziziphene kwimfuza ebizwa ngokuba yi-fibrillin-1. I-Fibrillin-1 idlala indima ebalulekileyo njengebhloko yokwakha izicwili ezihlanganayo emzimbeni.

Isiphene semfuza senza ukuba amathambo omzimba akhule kakhulu. Abantu abanesi sifo banobude obude kunye neengalo ezinde kunye nemilenze. Indlela oku kwenzeka ngayo oku kungaphaya kokuqonda akuqondwa kakuhle.

Ezinye iindawo zomzimba ezichaphazelekayo zibandakanya:

• Amathambo emiphunga (kunokubakho i-pneumothorax, apho umoya ungaphuma emiphungeni uye kwisifuba kwaye uwele umphunga)
• I-aorta, elona gazi liphambili lithatha igazi lisuka entliziyweni liye emzimbeni linokuzolula okanye libe buthathaka (okubizwa ngokuba yi-aortic dilation okanye i-aortic aneurysm)
• Intliziyo zivala
• Amehlo, abangela ukungaboni kakuhle kunye nezinye iingxaki (njengokukhutshwa kweelensi)
• Ulusu
• Izicubu ezigubungele intambo yomqolo
• Amalungu

Kwiimeko ezininzi, iMarfan syndrome idluliselwa kwiintsapho (ezizuzwe njengelifa). Nangona kunjalo, ukuya kuthi ga kwi-30% yabantu abanayo imbali yosapho, ebizwa ngokuba yi "sporadic." Kwiimeko ezithile manqaphanqapha, isifo sikholelwa ukuba sibangelwa kukutshintsha kwemfuza okutsha.

Abantu abaneMarfan syndrome bahlala bade ngeengalo ezinde, ezincinci nemilenze kunye neminwe efana nesigcawu (ebizwa ngokuba yi-arachnodactyly). Ubude beengalo bungaphezulu kobude xa iingalo zoluliwe.

Ezinye iimpawu zibandakanya:

• Isifuba esitshonayo okanye sinamathele, esibizwa ngokuba sisifuba se-funnel (pectus excavatum) okanye isifuba sejuba (pectus carinatum)
• Iinyawo ezisicaba
• Inkalaka ephezulu kunye namazinyo axineneyo
• IHypotonia
• Amalungu aguqukayo kakhulu (kodwa iingqiniba zinokuguquguquka kancinci)
• Ukukhubazeka kokufunda
• Ukuhamba kwelensi yamehlo ukusuka kwindawo yesiqhelo (ukususwa)
• Ukubona ngaphambili
• Umhlathi omncinci osezantsi (micrognathia)
• Umqolo ojikeleza kwelinye icala (scoliosis)
• Ubhitye, ubuso obumxinwa

Abantu abaninzi abane-Marfan syndrome banesifo esinganyangekiyo kunye nentlungu edibeneyo.

Umboneleli wezempilo uya kwenza uvavanyo lomzimba. Amalungu anokuhamba ngaphezulu kwesiqhelo. Kukho ukubakho kweempawu:

• Unyango
• Umphunga owileyo
• Iingxaki zevalvu zentliziyo

Ukuhlolwa kwamehlo kunokubonisa:

• Ukusilela kwelensi okanye i-cornea
• I-Retinal detachment
• Iingxaki zombono

Olu vavanyo lulandelayo lunokwenziwa:

• Echocardiogram
• Uvavanyo lwe-Fibrillin-1 lokutshintsha (kwabanye abantu)

I-echocardiogram okanye olunye uvavanyo kufuneka lwenziwe minyaka le ukujonga isiseko se-aorta kwaye mhlawumbi nezivalo zentliziyo.

Iingxaki zombono kufuneka ziphathwe xa kunokwenzeka.

Ukubeka iliso kwi-scoliosis, ngakumbi ngexesha leminyaka yeshumi elivisayo.

Amayeza okucothisa ukubetha kwentliziyo kunye nokunciphisa uxinzelelo lwegazi kunokunceda ukuthintela uxinzelelo kwi-aorta. Ukuthintela ukwenzakala kwe-aorta, abantu abanesimo banokutshintsha imisebenzi yabo. Abanye abantu banokufuna utyando ukuze bathathe indawo yengcambu kunye nevalve.

Abafazi abakhulelweyo abane-Marfan syndrome kufuneka babekwe esweni kakhulu ngenxa yoxinzelelo olonyukayo entliziyweni nakwi-aorta.

Isiseko seSizwe seMarfan- www.marfan.org

Iingxaki ezinxulumene nentliziyo zinokunciphisa ubomi babantu abanesi sifo. Nangona kunjalo, abantu abaninzi bahlala kwi-60 yabo nangaphezulu. Unonophelo olululo kunye notyando lunokuqhubeka nokwandisa ixesha lokuphila.

Iingxaki zinokubandakanya:

• Ukuphinda ubuye kwakhona kwi-Aortic
• Ukuqhekeka kwe-aortic
• I-bacterial endocarditis
• Ukusasaza i-aortic aneurysm
• Ukwandiswa kwesiseko se-aorta
• Ukumelwa yintliziyo
• I-Mitral valve prolapse
• Scoliosis
• Iingxaki zombono

Abantu abatshatileyo abanale meko kwaye baceba ukuba nabantwana banokufuna ukuthetha nomcebisi wezofuzo ngaphambi kokuqala usapho.

Ukutshintsha kwemfuza okuzenzekelayo okukhokelela kuMarfan (ngaphantsi kwesinye kwisithathu samatyala) akunakuthintelwa. Ukuba une-Marfan syndrome, jonga umboneleli wakho ubuncinci kube kanye ngonyaka.

Aortic aneurysm -Marfan

• 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, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 722.

UMadan-Khetarpal S, uArnold G.Ukuphazamiseka kwemfuza kunye neemeko zedysmorphic. Ku: Zitelli, BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 1.

UPyeritz RE. Izifo ezizuze njengelifa zezihlunu ezinxibelelanayo. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Ngomhla wama-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 244.