Lefu la Loeys-Dietz

Litaba

• Mefuta
• Ke likarolo life tsa 'mele tse anngoeng ke lefu la Loeys-Dietz?
• Tšepo ea bophelo le selelekela
• Matšoao a lefu la Loeys-Dietz
• Mathata a pelo le mali
• Likarolo tse fapaneng tsa sefahleho
• Matšoao a sistimi ea masapo
• Matšoao a letlalo
• Mathata a mahlo
• Matšoao a mang
• Ke eng e bakang lefu la Loeys-Dietz?
• Lefu la Loeys-Dietz le bokhachane
• Loeys-Dietz Syndrome e alafshoa joang?
• Tsa Tsau-tsau

Kakaretso

Lefu la Loeys-Dietz ke bokuli bo amang liphatsa tsa lefutso. Lisele tse sebetsang li bohlokoa bakeng sa ho fana ka matla le ho tenyetseha masapo, lihokela, mesifa le methapo ea mali.

Lefu la Loeys-Dietz le qalile ho hlalosoa ka 2005.Likarolo tsa eona li tšoana le Marfan's syndrome le Ehlers-Danlos syndrome, empa lefu la Loeys-Dietz le bakoa ke liphetoho tse fapaneng tsa lefutso. Mathata a lisele tse sebetsang a ka ama 'mele oohle, ho kenyeletsoa masapo, letlalo, pelo, mahlo le sesole sa' mele.

Batho ba nang le lefu la Loeys-Dietz ba na le litšobotsi tsa sefahleho tse ikhethileng, joalo ka mahlo a arohaneng haholo, lesoba marulelong ka hanong (lehare le bulehileng), le mahlo a sa supeng nqa e le 'ngoe (strabismus) - empa ha ho na batho ba babeli ba nang le ho hloka taolo ho tšoana.

Mefuta

Ho na le mefuta e mehlano ea lefu la Loeys-Dietz, le tšoailoeng I ho ea ho V. Mofuta ona o ipapisitse le hore na phetoho ea lefutso e ikarabella ho baka ts'oaetso:

• Tlanya I e bakoa ke phetoho ea kholo ea beta receptor 1TJFBR1) liphetoho liphatseng tsa lefutso
• Mofuta oa II e bakoa ke phetoho ea kholo ea beta receptor 2 (TGFBR2) liphetoho liphatseng tsa lefutso
• Mofuta oa III e bakoa ke bo-mme khahlanong le decapentaplegic homolog 3 (SMAD3) liphetoho liphatseng tsa lefutso
• Mofuta oa IV e bakoa ke phetoho ea kholo ea beta 2 ligand (TGFB2) liphetoho liphatseng tsa lefutso
• Mofuta oa V e bakoa ke phetoho ea kholo ea beta 3 ligand (TGFB3) liphetoho liphatseng tsa lefutso

Kaha Loeys-Dietz e ntse e le bothata bo batlang bo sa tsoa tsebahala, boramahlale ba ntse ba ithuta ka phapang ea likarolo tsa bongaka lipakeng tsa mefuta e mehlano.

Ke likarolo life tsa 'mele tse anngoeng ke lefu la Loeys-Dietz?

Joaloka bokuli ba lisele tse sebetsang, lefu la Loeys-Dietz le ka ama hoo e ka bang karolo e ngoe le e ngoe ea 'mele. Tse latelang ke libaka tse tsebahalang haholo ka batho ba nang le bothata bona:

• pelo
• methapo ea mali, haholo-holo aorta
• mahlo
• sefahleho
• masapo, ho kenyelletsa lehata le mokokotlo
• manonyeletso
• letlalo
• sesole sa 'mele
• tsamaiso ea tšilo ea lijo
• litho tse sekoti, joalo ka spleen, popelo le mala

Lefu la Loeys-Dietz le fapana ho ea ka batho. Kahoo ha se motho e mong le e mong ea nang le lefu la Loeys-Dietz ea tla ba le matšoao likarolong tsena tsohle tsa 'mele.

Tšepo ea bophelo le selelekela

Ka lebaka la mathata a mangata a sokelang bophelo a amanang le pelo ea motho, masapo le boits'ireletso ba mmele, batho ba nang le lefu la Loeys-Dietz ba kotsing e kholo ea ho phela nako e khuts'oane. Leha ho le joalo, tsoelo-pele ea tlhokomelo ea bongaka e lula e etsoa ho thusa ho fokotsa mathata ho ba anngoeng ke lefu lena.

Joalokaha lefu lena le sa tsoa tsejoa haufinyane, ho thata ho hakanya tebello ea 'nete ea bophelo ho motho ea nang le lefu la Loeys-Dietz. Hangata, ke linyeoe tse matla ka ho fetisisa tsa lefu le lecha tse tla tla ngakeng. Linyeoe tsena ha li bontše katleho ea hona joale kalafong. Matsatsing ana, hoa khonahala hore batho ba phelang le Loeys-Dietz ba phele nako e telele, e felletseng.

Matšoao a lefu la Loeys-Dietz

Matšoao a lefu la Loeys-Dietz a ka hlaha neng kapa neng nakong ea bongoana ho fihlela motho e moholo. Boima bo fapana haholo ho ea ka batho.

Tse latelang ke matšoao a khethollang ka ho fetisisa a lefu la Loeys-Dietz. Leha ho le joalo, ho bohlokoa ho hlokomela hore matšoao ana ha a bonoe ho batho bohle mme ha se kamehla a lebisang tlhahlobong e nepahetseng ea lefu lena:

Mathata a pelo le mali

• ho holisoa ha aorta (methapo ea mali e fanang ka mali ho tsoa pelong ho ea ho mmele o mong)
• aneurysm, leruru leboteng la methapo ea mali
• ho arohana ha aortic, ho taboha ka tšohanyetso ha likarolo tsa lebota la aorta
• methapo ea mali, ho sotha kapa ho hlapolla methapo
• mathata a mang a pelo ea tlhaho

Likarolo tse fapaneng tsa sefahleho

• hypertelorism, mahlo a sebaka se pharaletseng
• bifid (split) kapa wide uvula (karoloana ea nama e leketlileng ka morao molomong)
• marapo a sephara
• ho sekama hanyane hanyane ho isa mahlong
• craniosynostosis, ho kopana ha masapo a lehata kapele
• mahalapa a petsohileng, lesoba marulelong a molomo
• blue sclerae, 'mala o moputsoa ho makhooa a mahlo
• micrognathia, seledu se senyane
• retrognathia, ho thella hape

Matšoao a sistimi ea masapo

• menoana e metelele le menoana ea maoto
• likonteraka tsa menoana
• maoto
• scoliosis, ho kobeha ha mokokotlo
• Ho se tsitse ha mokokotlo oa mokokotlo oa mokokotlo
• boitekanelo bo kopaneng
• pectus excavatum (sefuba se koahetsoeng) kapa pectus carinatum (sefuba se hlahelang)
• osteoarthritis, ho ruruha kopanetsoeng
• pes planus, maoto a bataletseng

Matšoao a letlalo

• letlalo le fetohang
• letlalo le bonojana kapa le boreleli
• ho longoa habonolo
• ho tsoa madi ha bonolo
• eczema
• maqeba a sa tloaelehang

Mathata a mahlo

• myopia, pono e haufi
• mathata a mesifa ea mahlo
• strabismus, mahlo a sa supeng nqa e le 'ngoe
• lesapo la mokokotlo

Matšoao a mang

• lijo kapa alejiki ea tikoloho
• lefu la ho ruruha ka mpeng
• asma

Ke eng e bakang lefu la Loeys-Dietz?

Lefu la Loeys-Dietz ke lefu la lefutso le bakoang ke phetoho ea lefutso ho e 'ngoe ea liphatsa tsa lefutso. Liphatsa tsa lefutso tsena tse hlano li ikarabella bakeng sa ho etsa li-receptor le limolek'hule tse ling tseleng e fetolang kholo ea beta (TGF-beta). Tsela ena e bohlokoa kholisong e nepahetseng le ntlafatsong ea lisele tsa mmele tse hokahanang. Liphatsa tsa lefutso tsena ke:

• TGFBR1
• TGFBR2
• EA-3-SMAD
• TGFBR2
• TGFBR3

Boloetse bona bo na le mohlala o ikhethang oa lefa. Sena se bolela hore ke kopi e le 'ngoe feela ea lefutso le fetotsoeng e lekane ho baka bothata. Haeba u na le lefu la Loeys-Dietz, ho na le menyetla ea 50 lekholong ea hore ngoana oa hau le eena a ka ba le bothata. Leha ho le joalo, hoo e ka bang liperesente tse 75 tsa linyeoe tsa Loeys-Dietz li etsahala ho batho ba se nang nalane ea lelapa ea lefu lena. Ho fapana le moo, bofokoli ba lefutso bo hlaha ka bohona ka popelong.

Lefu la Loeys-Dietz le bokhachane

Bakeng sa basali ba nang le lefu la Loeys-Dietz, ho kgothaletswa ho lekola likotsi tsa hau le moeletsi oa lefutso pele o ima. Ho na le likhetho tsa liteko tse entsoeng nakong ea bokhachane ho bona hore na lesea le tla ba le bothata bona.

Mosali ea nang le lefu la Loeys-Dietz le eena o tla ba le kotsi e kholo ea ho qhalana ha aortic le ho phatloha ha popelo nakong ea bokhachane le hang kamora ho beleha. Lebaka ke hore ho ima ho eketsa khatello ea maikutlo pelong le methapong ea mali.

Basali ba nang le lefu la aortic kapa bofokoli ba pelo ba lokela ho bua ka likotsi le ngaka kapa setsebi sa pelehi pele ba nahana ka ho ima. Boimana ba hau bo tla nkuoa e le "kotsi e kholo" mme bo kanna ba hloka tlhokomelo e khethehileng. Meriana e meng e sebelisitsoeng kalafong ea lefu la Loeys-Dietz le eona ha ea lokela ho sebelisoa nakong ea bokhachane ka lebaka la kotsi ea ho holofala ha tsoalo le ho lahleheloa ke lesea.

Loeys-Dietz Syndrome e alafshoa joang?

Nakong e fetileng, batho ba bangata ba nang le lefu la Loeys-Dietz ba ile ba fumanoa ka phoso ba e-na le lefu la Marfan. Hona joale hoa tsebahala hore lefu la Loeys-Dietz le bakoa ke liphetoho tse fapaneng tsa lefutso mme le hloka ho laoloa ka tsela e fapaneng. Ho bohlokoa ho kopana le ngaka e tsebang lefu lena molemong oa ho fumana leano la kalafo.

Ha ho na pheko bakeng sa lefu lena, kahoo kalafo e etselitsoe ho thibela le ho phekola matšoao. Ka lebaka la kotsi e kholo ea ho robeha, motho ea nang le boemo bona o lokela ho lateloa haufi-ufi ho lekola sebopeho sa li-aneurysms le mathata a mang. Tlhokomelo e ka kenyelletsa:

• selemo le selemo kapa li-echocardiograms tsa selemo le selemo
• selemo le selemo ea computed tomography angiography (CTA) kapa magnetic resonance angiography (MRA)
• X-ray ea mokokotlo oa mokokotlo oa mokokotlo

Ho latela matšoao a hau, kalafo tse ling le mehato ea thibelo e ka kenyelletsa:

• meriana ho fokotsa khatello ea methapo e meholo ea 'mele ka ho fokotsa ho otla ha pelo le khatello ea mali, joalo ka angiotensin receptor blockers kapa beta-blockers
• ho buuoa ka methapo joalo ka phetoho ea methapo ea aortic le litokiso tsa methapo bakeng sa aneurysms
• lithibelo tsa boikoetliso, joalo ka ho qoba lipapali tsa tlholisano, ho ikopanya le lipapali, ho ikoetlisa ho fihlela mokhathala, le ho ikoetlisa ho thatafatsang mesifa, joalo ka pushups, pullups le situps
• mesebetsi e bobebe ea pelo joalo ka ho hahlaula maoto, ho palama libaesekele, ho matha le ho sesa
• ho buuoa ka masapo kapa ho emisoa bakeng sa scoliosis, ho holofala maoto, kapa likonteraka
• meriana ea ho kula le ho buisana le ngaka e hananang le mmele
• kalafo ya mmele ho phekola ho hloka botsitso ha mokokotlo oa mokokotlo
• ho buisana le setsebi sa phepo e nepahetseng bakeng sa litaba tsa mala

Tsa Tsau-tsau

Ha ho batho ba babeli ba nang le lefu la Loeys-Dietz ba tla ba le litšobotsi tse tšoanang. Haeba uena kapa ngaka ea hau u belaella hore u na le lefu la Loeys-Dietz, ho kgothaletswa hore o kopane le setsebi sa lefutso se tsebang mathata a amanang le lisele. Hobane lefu lena le ile la tsejoa feela ka 2005, lingaka tse ngata li kanna tsa se hlokomele. Haeba phetoho ea liphatsa tsa lefutso e fumanoa, ho khothalletsoa hore le hona ho leke litho tsa lelapa bakeng sa phetoho e tšoanang.

Ha bo-rasaense ba ntse ba ithuta haholoanyane ka bokuli, ho lebelletsoe hore litlhahlobo tsa pejana li tla khona ho ntlafatsa litholoana tsa bongaka le ho lebisa likhethong tse ncha tsa kalafo.