I-Loeys-Dietz Syndrome

-Delile

• Izinhlobo
• Yiziphi izindawo zomzimba ezithinteka yi-Loeys-Dietz syndrome?
• Isikhathi sokuphila nokubikezela
• Izimpawu ze-Loeys-Dietz syndrome
• Izinkinga zenhliziyo negazi
• Izici zobuso ezihlukile
• Izimpawu zohlelo lwamathambo
• Izimpawu zesikhumba
• Izinkinga zamehlo
• Ezinye izimpawu
• Yini ebangela i-Loeys-Dietz syndrome?
• I-Loeys-Dietz syndrome nokukhulelwa
• Uphathwa kanjani uLoeys-Dietz Syndrome?
• Ukudla okudlela endlini

Ukubuka konke

I-Loeys-Dietz syndrome yisifo sofuzo esithinta izicubu ezixhuma. Izicubu ezixhunyiwe zibalulekile ekuhlinzekeni amandla nokuguquguquka kwamathambo, imisipha, imisipha nemithambo yegazi.

I-Loeys-Dietz syndrome yaqala ukuchazwa ngo-2005. Izici zayo ziyefana neMarfan's syndrome kanye ne-Ehlers-Danlos syndrome, kodwa iLoeys-Dietz syndrome ibangelwa ukuguquka kwezakhi zofuzo okuhlukile. Ukuphazamiseka kwezicubu ezixhuma kungathinta wonke umzimba, kufaka phakathi uhlelo lwamathambo, isikhumba, inhliziyo, amehlo, namasosha omzimba.

Abantu abane-Loeys-Dietz syndrome banezici zobuso ezihlukile, njengamehlo ahlukaniswe kabanzi, imbobo ophahleni lomlomo (i-cleft palate), namehlo angakhombi ohlangothini olufanayo (i-strabismus) - kepha abekho abantu ababili abane ukuphazamiseka kuyafana.

Izinhlobo

Kunezinhlobo ezinhlanu ze-Loeys-Dietz syndrome, ebhalwe ukuthi I kuya ku-V. Uhlobo lolo kuncike ekutheni yikuphi ukuguquka kwezakhi zofuzo okunesibangela sokuphazamiseka:

• Thayipha I kubangelwa ukuguqula ukukhula kwe-beta receptor 1 (I-TGFBR1) ukuguquka kwezakhi zofuzo
• Uhlobo II kubangelwa ukuguqula ukukhula kwe-beta receptor 2 (Amabhayisikobho) ukuguqulwa kwezakhi zofuzo
• Uhlobo III kubangelwa omama abamelene ne-decapentaplegic homolog 3 (I-SMAD3) ukuguquka kwezakhi zofuzo
• Uhlobo IV kubangelwa ukuguqula ukukhula kwe-beta 2 ligand (I-TGFB2) ukuguquka kwezakhi zofuzo
• Thayipha V kubangelwa ukuguqula ukukhula kwe-beta 3 ligand (I-TGFB3) ukuguquka kwezakhi zofuzo

Njengoba iLoeys-Dietz iseseyisifo esivele sisanda kubonakala, ososayensi basaqhubeka nokufunda ngomehluko wezimpawu zomtholampilo phakathi kwalezi zinhlobo ezinhlanu.

Yiziphi izindawo zomzimba ezithinteka yi-Loeys-Dietz syndrome?

Njengesifo sezicubu ezixhuma, i-Loeys-Dietz syndrome ingathinta cishe zonke izingxenye zomzimba. Okulandelayo yizindawo ezivame kakhulu ukukhathazeka kubantu abanalesi sifo:

• inhliziyo
• imithambo yegazi, ikakhulukazi i-aorta
• amehlo
• ubuso
• uhlelo lwamathambo, kufaka phakathi ugebhezi nomgogodla
• amalunga
• isikhumba
• Amasosha omzimba
• uhlelo lokugaya ukudla
• izitho eziyize, njengobende, isibeletho namathumbu

I-Loeys-Dietz syndrome iyahlukahluka kuye ngomuntu nomuntu. Ngakho-ke akuwona wonke umuntu one-Loeys-Dietz syndrome ozoba nezimpawu kuzo zonke lezi zingxenye zomzimba.

Isikhathi sokuphila nokubikezela

Ngenxa yezinkinga eziningi ezisongela impilo ezihlobene nenhliziyo yomuntu, amathambo, namasosha omzimba, abantu abane-Loeys-Dietz syndrome basengozini enkulu yokuba nesikhathi esifushane sokuphila. Kodwa-ke, intuthuko ekunakekelweni kwezokwelapha yenziwa njalo ukusiza ukunciphisa izinkinga kulabo abathintekayo yilesi sifo.

Njengoba lesi sifo sisanda kubonwa muva nje, kunzima ukulinganisa isikhathi sokuphila seqiniso kumuntu one-Loeys-Dietz syndrome. Imvamisa, amacala abucayi kakhulu wesifo esisha azongena kwezokwelapha. Lawa macala awakhombisi impumelelo yamanje ekwelashweni. Kulezi zinsuku, kungenzeka ukuthi abantu abaphila noLoeys-Dietz baphile impilo ende, egcwele.

Izimpawu ze-Loeys-Dietz syndrome

Izimpawu zesifo i-Loeys-Dietz syndrome zingavela noma kunini ngesikhathi sobuntwana ngokuba mdala. Ubukhali buyehluka kakhulu kuye ngomuntu nomuntu.

Okulandelayo yizimpawu zesici seLoeys-Dietz syndrome. Kodwa-ke, kubalulekile ukuthi wazi ukuthi lezi zimpawu azibonwa kubo bonke abantu futhi aziholeli ekutholeni ukuxilongwa okunembile kwalesi sifo:

Izinkinga zenhliziyo negazi

• ukukhuliswa kwe-aorta (umthambo wegazi oletha igazi lisuka enhliziyweni liye kuwo wonke umzimba)
• i-aneurysm, i-bulge odongeni lwemithambo yegazi
• ukuhlukaniswa kwe-aorta, ukudabuka okungazelelwe kwezingqimba odongeni lwe-aorta
• ukuhlukumezeka kwemithambo, ukusonteka noma ukuvuleka kwemithambo
• okunye ukukhubazeka kwenhliziyo okuzelwe

Izici zobuso ezihlukile

• i-hypertelorism, amehlo esikhala esikhulu
• i-bifid (ihlukaniswe) noma i-uvula ebanzi (isiqeshana senyama esilenga phansi emlonyeni)
• amathambo esihlathini acabalele
• okutshekile okuya phansi kancane emehlweni
• i-craniosynostosis, ukuhlanganiswa kokuqala kwamathambo ogebhezi
• ulwanga oluqondile, imbobo ophahleni lomlomo
• i-blue sclerae, i-blue tinge eya kwabamhlophe bamehlo
• i-micrognathia, isilevu esincane
• retrognathia, ukwehla kwesilevu

Izimpawu zohlelo lwamathambo

• iminwe nezinzwane ezinde
• izinkontileka zeminwe
• unyawo
• scoliosis, ukugobeka komgogodla
• ukungazinzi komgogodla womlomo wesibeletho
• ukuxegisa okuhlangene
• i-pectus excavatum (isifuba esishonile) noma i-pectus carinatum (isifuba esiphumayo)
• i-osteoarthritis, ukuvuvukala okuhlangene
• pes planus, izinyawo eziyizicaba

Izimpawu zesikhumba

• isikhumba esiguqukayo
• isikhumba esithambile noma esivelivethi
• ukulinyazwa okulula
• ukopha okulula
• eczema
• izibazi ezingavamile

Izinkinga zamehlo

• myopia, ukubona eduze
• ukuphazamiseka kwemisipha yamehlo
• strabismus, amehlo angakhombi ohlangothini olufanayo
• iqembu le-retinal

Ezinye izimpawu

• ukudla noma ukungezwani kwemvelo
• isifo sokuvuvukala kwamathumbu
• isifuba somoya

Yini ebangela i-Loeys-Dietz syndrome?

I-Loeys-Dietz syndrome yisifo sofuzo esibangelwa ukuguqulwa kwezakhi zofuzo (iphutha) kolunye lohlobo lwesihlanu. Lezi zofuzo ezinhlanu zinesibopho sokwenza ama-receptors namanye ama-molecule endleleni yokuguqula ukukhula kwe-beta (TGF-beta). Le ndlela ibalulekile ekukhuleni nasekuthuthukiseni okufanele kwezicubu zomzimba. Lezi zofuzo yilezi:

• UMCULO
• Amabhayisikobho
• I-SMAD-3
• Amabhayisikobho
• Amabhayisikobho

Lesi sifo sine-autosomal iphethini ephezulu yefa. Lokhu kusho ukuthi yikhophi eyodwa vo yesakhi esiguqukile eyanele ukudala lesi sifo. Uma une-Loeys-Dietz syndrome, kunamathuba angamaphesenti angama-50 okuthi ingane yakho nayo izoba nalesi sifo. Kodwa-ke, cishe amaphesenti angama-75 amacala weLoeys-Dietz syndrome atholakala kubantu abangenawo umlando womndeni walesi sifo. Esikhundleni salokho, ukukhubazeka kwezakhi zofuzo kwenzeka ngokuzenzekelayo esibelethweni.

I-Loeys-Dietz syndrome nokukhulelwa

Kwabesifazane abane-Loeys-Dietz syndrome, kunconywa ukuthi ubuyekeze ubungozi bakho nomeluleki wezofuzo ngaphambi kokukhulelwa. Kunezinketho zokuhlola ezenziwa ngesikhathi sokukhulelwa ukuthola ukuthi ngabe umbungu uzoba nalesi sifo.

Owesifazane one-Loeys-Dietz syndrome uzoba nengozi enkulu yokuqhekeka kwe-aortic nokuqhekeka kwesibeletho ngesikhathi sokukhulelwa nangemva kokubeletha. Lokhu kungenxa yokuthi ukukhulelwa kufaka ukwanda kwengcindezi enhliziyweni nasemithanjeni yegazi.

Abesifazane abanesifo i-aortic noma ukukhubazeka kwenhliziyo kufanele baxoxe ngobungozi nodokotela noma nodokotela wokubelethisa ngaphambi kokucabanga ukukhulelwa. Ukukhulelwa kwakho kuzobhekwa “njengengozi enkulu” futhi kungadinga ukuqashwa okukhethekile. Eminye yemithi esetshenziswa ekwelapheni i-Loeys-Dietz syndrome nayo akufanele isetshenziswe ngesikhathi sokukhulelwa ngenxa yengozi yokukhubazeka kokuzalwa nokulahleka kwengane.

Uphathwa kanjani uLoeys-Dietz Syndrome?

Esikhathini esedlule, abantu abaningi abane-Loeys-Dietz syndrome batholwa ngephutha ukuthi bane-Marfan's syndrome. Manje sekuyaziwa ukuthi i-Loeys-Dietz syndrome isuselwa ekuguqulweni kwezakhi zofuzo okuhlukile futhi idinga ukuphathwa ngokuhlukile. Kubalulekile ukuhlangana nodokotela ojwayele lesi sifo ukuze kunqunywe uhlelo lokwelashwa.

Alikho ikhambi lalesi sifo, ngakho-ke ukwelashwa kuhlose ukuvimbela nokwelapha izimpawu. Ngenxa yengozi enkulu yokuqhekeka, umuntu onalesi simo kufanele alandelwe eduze ukuqapha ukwakheka kwama-aneurysms nezinye izinkinga. Ukuqapha kungafaka:

• ama-echocardiograms wonyaka noma wamabili
• i-computed tomography angiography yonyaka (i-CTA) noma i-magnetic resonance angiography (MRA)
• Umgogodla womlomo wesibeletho ama-X-ray

Ngokuya ngezimpawu zakho, ezinye izindlela zokwelapha nezindlela zokuzivikela zingafaka:

• imithi ukunciphisa ubunzima emithanjeni emikhulu yomzimba ngokunciphisa ukushaya kwenhliziyo nomfutho wegazi, njenge-angiotensin receptor blockers noma i-beta-blockers
• ukuhlinzwa kwemithambo yegazi njengokufakwa kwezimpande ze-aortic nokulungiswa kwemithambo yegazi kwama-aneurysms
• imingcele yokuzivocavoca, njengokugwema ezemidlalo zokuncintisana, ezokuxhumana, ukuzivocavoca ukukhathala, nokuzivocavoca okucindezela imisipha, njengama-pushups, pullups, kanye ne-situps
• imisebenzi elula yenhliziyo njengokuhamba izintaba, ukuhamba ngebhayisikili, ukugijima nokubhukuda
• ukuhlinzwa kwamathambo noma ukubopha ye-scoliosis, ukukhubazeka kwezinyawo, noma izinkontileka
• imithi yokungezwani komzimba nokubonisana nesilwanyane
• ukwelashwa ngokomzimba ukwelapha ukungazinzi komgogodla womlomo wesibeletho
• ukubonisana nesazi sokudla ngezinkinga zamathumbu

Ukudla okudlela endlini

Abekho abantu ababili abane-Loeys-Dietz syndrome abazoba nezici ezifanayo. Uma wena noma udokotela wakho usola ukuthi une-Loeys-Dietz syndrome, kunconywa ukuthi uhlangane nesazi sezakhi zofuzo esijwayele ukuphazamiseka kwezicubu ezihlangene. Ngenxa yokuthi lesi sifo saqashelwa ngo-2005, odokotela abaningi kungenzeka bangazi. Uma kutholakala ukuguqulwa kwezakhi zofuzo, kuphakanyiswa ukuthi futhi kuhlolwe amalungu omndeni ngokuguquka okufanayo.

Njengoba ososayensi befunda kabanzi ngokugula, kulindeleke ukuthi ukuxilongwa kwangaphambilini kuzokwazi ukwenza ngcono imiphumela yezokwelapha futhi kuholele ezinkethweni ezintsha zokwelashwa.