Lefu la Marfan

Marfan syndrome ke bothata ba lisele tse sebetsang. Ena ke lisele tse matlafatsang likarolo tsa 'mele.

Mathata a lisele tse sebetsang a ama masapo, methapo ea pelo, mahlo le letlalo.

Marfan syndrome e bakoa ke liphoso tsa lefutso le bitsoang fibrillin-1. Fibrillin-1 e bapala karolo ea bohlokoa joalo ka karolo ea moaho oa lisele tse sebetsang 'meleng.

Bothata ba liphatsa tsa lefutso bo boetse bo etsa hore masapo a malelele a 'mele a hole haholo. Batho ba nang le lefu lena ba na le bolelele bo bolelele le matsoho le maoto a malelele. Hore na kholo ena e feta joang ha e utloisisoe hantle.

Libaka tse ling tsa 'mele tse amehileng li kenyelletsa:

• Lisele tsa matšoafo (ho kanna ha ba le pneumothorax, moo moea o ka tsoang matšoafong ho ea sefubeng ebe o oa matšoafong)
• Aorta, sejana se seholo sa mali se nkang mali ho tloha pelong ho ea 'meleng se ka otlolla kapa sa fokola (se bitsoang aortic dilation kapa aortic aneurysm)
• Lipelo tsa pelo
• Mahlo, a baka lera la mahlo le mathata a mang (joalo ka ho tlosoa ha lilense)
• Letlalo
• Lisele tse koahelang lesapo la mokokotlo
• Manonyeletso

Maemong a mangata, lefu la Marfan le fetisoa ke malapa (a futsitsoeng). Leha ho le joalo, ho fihlela ho 30% ea batho ha ba na nalane ea malapa, e bitsoang "sporadic." Maemong a sa tloaelehang, lefu lena ho lumeloa hore le bakoa ke phetoho e ncha ea liphatsa tsa lefutso.

Batho ba nang le Marfan syndrome hangata ba ba telele ka matsoho le maoto a malelele a masesaane le menoana e kang sekho (e bitsoang arachnodactyly). Bolelele ba matsoho bo boholo ho feta bophahamo ha matsoho a otlolohile.

Matšoao a mang a kenyelletsa:

• Sefuba se tebang kapa se khomarelang, se bitsoang sefuba sa funnel (pectus excavatum) kapa sefuba sa leeba (pectus carinatum)
• Maoto a bataletseng
• Mahalapa a phahameng haholo le meno a mangata
• Hypotonia
• Manonyeletso a fetofetohang haholo (empa litsoeng li kanna tsa se fetohe habonolo)
• Bokooa ba ho ithuta
• Motsamao oa lense ea leihlo ho tloha boemong ba eona bo tloaelehileng (ho qhalana)
• Ho se bone haufi
• Mohlahare o monyane o tlase (micrognathia)
• Mokokotlo o potolohang ka lehlakoreng le leng (scoliosis)
• Sefahleho se sesesane, se sesesane

Batho ba bangata ba nang le Marfan syndrome ba na le bohloko bo sa foleng ba mesifa le manonyeletso.

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele. Manonyeletso a ka tsamaea ho feta tloaelo. Ho kanna ha ba le matšoao a:

• Aneurysm
• Matšoafo a helehileng
• Mathata a li-valve tsa pelo

Tlhahlobo ea mahlo e ka bonts'a:

• Liphoso tsa lense kapa cornea
• Sehlopha sa Retinal
• Mathata a pono

Liteko tse latelang li ka etsoa:

• Echocardiogram
• Teko ea phetoho ea Fibrillin-1 (ho batho ba bang)

Echocardiogram kapa tlhahlobo e 'ngoe e lokela ho etsoa selemo se seng le se seng ho sheba botlaaseng ba aorta mme mohlomong le li-valve tsa pelo.

Mathata a pono a lokela ho phekoloa ha ho khonahala.

Hlahloba scoliosis, haholo-holo nakong ea bocha.

Meriana ea ho fokotsa lebelo la pelo le khatello e tlase ea mali e ka thusa ho thibela khatello ea maikutlo ho aorta. E le ho qoba ho lematsa aorta, batho ba nang le boemo bona ba ka tlameha ho fetola mesebetsi ea bona. Batho ba bang ba kanna ba hloka ho buuoa ho nkela motso oa aortic le valve sebaka.

Bakhachane ba nang le lefu la Marfan ba tlameha ho behoa leihlo haholo ka lebaka la khatello ea maikutlo le pelo.

Motheo oa Naha oa Marfan - www.marfan.org

Mathata a amanang le pelo a ka khutsufatsa bophelo ba batho ba nang le lefu lena. Leha ho le joalo, batho ba bangata ba phela ho fihlela lilemong tsa bo-60 le ho feta. Tlhokomelo e ntle le ho buuoa li ka eketsa nako ea bophelo.

Mathata a ka kenyelletsa:

• Phetoho ea aortic
• Ho phatloha ha aortic
• Baktheria endocarditis
• Ho senya aneurysm ea aortic
• Ho atolosoa ha setsi sa aorta
• Ho hloleha ha pelo
• Ho phatloha ha valve ea Mitral
• Scoliosis
• Mathata a pono

Banyalani ba nang le boemo bona mme ba rerile ho ba le bana ba ka batla ho bua le moeletsi oa liphatsa tsa lefutso pele ba qala lelapa.

Liphetoho tse itlhahelang feela tsa liphatsa tsa lefutso tse lebisang Marfan (tse ka tlase ho karolo ea boraro ea linyeoe) li ke ke tsa thibeloa. Haeba u na le Marfan syndrome, etela mofani oa hau bonyane hanngoe selemo se seng le se seng.

Aneurysm ea aortic - Marfan

• Pectus e hlahisitsoeng
• Lefu la Marfan

Doyle JJ, Doyle AJ, Dietz HC. Lefu la Marfan. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 722.

Madan-Khetarpal S, Mathata a liphatsa tsa lefutso a Arnold G. le maemo a dysmorphic. Ka: Zitelli, BJ, McIntire SC, Nowalk AJ, li-eds. Zitelli le Davis ’Atlas of Pediatric Diagnosis. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 1.

Pyeritz RE. Lefu le futsitsoeng la lisele tse sebetsang. Ka: Goldman L, Schafer AI, li-eds. Phekolo ea Goldman-Cecil. La 26th. Philadelphia, PA: Elsevier; 2020: khaolo ea 244.