Isifo seLoeys-Dietz

Umxholo

• Iindidi
• Zeziphi iindawo zomzimba ezichaphazelekayo yiLoeys-Dietz syndrome?
• Ukulindelwa kobomi kunye nokuxelwa kwangaphambili
• Iimpawu zeLoeys-Dietz syndrome
• Iingxaki zentliziyo kunye negazi
• Iimpawu zobuso ezahlukileyo
• Iimpawu zenkqubo yamathambo
• Iimpawu zolusu
• Iingxaki zamehlo
• Ezinye iimpawu
• Yintoni ebangela isifo seLoeys-Dietz?
• Isifo seLoeys-Dietz kunye nokukhulelwa
• Inyangwa njani iLoeys-Dietz Syndrome?
• Yise kude

Ushwankathelo

I-Loeys-Dietz syndrome sisifo esichaphazela imizimba yethu. Izicubu zokudibanisa zibalulekile ekunikezeleni ukomelela kunye nokuguquguquka emathanjeni, iigaments, izihlunu, kunye nemithambo yegazi.

I-Loeys-Dietz syndrome yaqala ukuchazwa ngo-2005.Iimpawu zayo ziyafana ne-Marfan's syndrome kunye ne-Ehlers-Danlos syndrome, kodwa i-Loeys-Dietz syndrome ibangelwa ziinguqu ezahlukeneyo zemfuza. Ukuphazamiseka kwezicubu ezinxibelelanayo kunokuchaphazela wonke umzimba, kubandakanya inkqubo yamathambo, ulusu, intliziyo, amehlo, kunye nenkqubo yomzimba yokuzikhusela.

Abantu abane-Loeys-Dietz syndrome baneempawu zobuso ezizodwa, njengamehlo ahlukeneyo, ukuvulwa kophahla emlonyeni (inkalakahla ecandekileyo), namehlo angakhombisi kwicala elinye (strabismus) - kodwa akukho bantu babini Ukuphazamiseka kuyafana.

Iindidi

Zintlanu iindidi zesifo seLoeys-Dietz, esibhalwe u-I ukuya ku-V.

• Chwetheza I Kubangelwa kukuguqula ukukhula kwe-beta receptor 1 (TGFBR1) Ukutshintsha kwemfuza
• Uhlobo II Kubangelwa kukuguqula ukukhula kwe-beta receptor 2 (Iqela) Ukutshintsha kwemfuza
• Uhlobo lwe-III kubangelwa ngoomama ngokuchasene ne-decapentaplegic homolog 3 (I-SMAD3) Ukutshintsha kwemfuza
• Uhlobo IV Kubangelwa kukuguqula ukukhula kwe-beta 2 ligand (TGFB2) Ukutshintsha kwemfuza
• Chwetheza V kubangelwa kukutshintsha kokukhula kwe-beta 3 ligand (TGFB3) Ukutshintsha kwemfuza

Kuba i-Loeys-Dietz isesisifo esandula ukubonakala, izazinzulu zisafunda ngumahluko kwiimpawu zeklinikhi phakathi kwezi ntlobo zintlanu.

Zeziphi iindawo zomzimba ezichaphazelekayo yiLoeys-Dietz syndrome?

Njengesiphazamiso sezicubu ezinxibelelanayo, isifo seLoeys-Dietz sinokuchaphazela phantse onke amalungu omzimba. Ezi zilandelayo zezona ndawo zixhaphakileyo kubantu abanesi sifo:

• Intliziyo
• imithambo yegazi, ngakumbi i-aorta
• amehlo
• ubuso
• inkqubo yamathambo, kubandakanya ukakayi kunye nomqolo
• amalungu
• ulusu
• inkqubo yomzimba
• inkqubo yokwetyisa
• amalungu angenanto, njengepeni, isibeleko kunye namathumbu

I-Loeys-Dietz syndrome iyahluka ukusuka komnye umntu ukuya komnye. Ke ayinguye wonke umntu one-Loeys-Dietz syndrome eya kuba neempawu kuwo onke la malungu omzimba.

Ukulindelwa kobomi kunye nokuxelwa kwangaphambili

Ngenxa yeengxaki ezininzi ezisongela ubomi ezinxulumene nentliziyo yomntu, amathambo, kunye namajoni omzimba, abantu abane-Loeys-Dietz syndrome basemngciphekweni omkhulu wokuphila ixesha elifutshane. Nangona kunjalo, inkqubela phambili kukhathalelo lonyango ihlala isenziwa ukunceda ukunciphisa iingxaki kwabo bachaphazeleka kukuphazamiseka.

Njengoko i-syndrome isandula ukwamkelwa kutsha nje, kunzima ukuqikelela ubude bexesha lokuphila lomntu one-Loeys-Dietz syndrome. Amaxesha amaninzi, kuphela kwezona meko zinzima zesifo esitsha eziza kunyango. La matyala akabonakalisi impumelelo yangoku kunyango. Kule mihla, kunokwenzeka ukuba abantu abaphila neLoeys-Dietz bakhokele ubomi obude, obupheleleyo.

Iimpawu zeLoeys-Dietz syndrome

Iimpawu zeLoeys-Dietz syndrome zinokuvela nanini na ebuntwaneni ngokuba mdala. Ubunzima buhluka kakhulu kumntu kumntu.

Oku kulandelayo zezona mpawu ziimpawu zesifo seLoeys-Dietz. Nangona kunjalo, kubalulekile ukuba uqaphele ukuba ezi mpawu azibonwa kubo bonke abantu kwaye azisoloko zikhokelela ekuchongeni ngokuchanekileyo isifo:

Iingxaki zentliziyo kunye negazi

• ukwandiswa kwe-aorta (umthambo wegazi ohambisa igazi lisuka entliziyweni uye kuwo wonke umzimba)
• i-aneurysm, iqhubu eludongeni lwemithambo yegazi
• Ukuqhaqhaqhaqhaqhaqhaqhaqhaqhaqhaqhaqhaqhaqhaqhaqhaqhaqwa kwamadonga kudonga lwe-aorta
• ukubola komzimba, ukujija okanye ukuhambisa imithambo
• ezinye iziphene zentliziyo ozelwe nayo

Iimpawu zobuso ezahlukileyo

• hypertelorism, amehlo asemajukujukwini
• bifid (split) okanye uvula ngokubanzi (iqhekeza lenyama elixhonywe emva emlonyeni)
• amathambo esidlele tyaba
• ukuhla kancinci kancinci emehlweni
• craniosynostosis, ukudibana kwangoko kwamathambo okakayi
• inkalakahla ecandekileyo, umngxuma eluphahleni lomlomo
• I-blue sclerae, i-blue tinge emhlophe emehlweni
• micrognathia, isilevu esincinci
• i-retrognathia, ukubuyela umva kwesilevu

Iimpawu zenkqubo yamathambo

• iminwe emide neenzwane
• intengiselwano yeminwe
• iklabhu
• scoliosis, ukugoba komqolo
• Ukungazinzi komlomo wesibeleko
• ukuyekelela ngokudibeneyo
• i-pectus excavatum (isifuba esitshonileyo) okanye i-pectus carinatum (isifuba esiphumayo)
• osteoarthritis, ukudumba ngokudibeneyo
• pes planus, iinyawo tyaba

Iimpawu zolusu

• isikhumba esiguqukayo
• ulusu oluthambileyo okanye velvet
• ukutyunyuzwa ngokulula
• ukopha ngokulula
• onokhwekhwe
• isikhumba esingaqhelekanga

Iingxaki zamehlo

• myopia, ukubona kwangoko
• ukuphazamiseka kwemisipha yamehlo
• strabismus, amehlo angakhombisi kwicala elinye
• I-retina detachment

Ezinye iimpawu

• ukutya okanye i-aleji yokusingqongileyo
• izifo zesisu esiswini
• umbefu

Yintoni ebangela isifo seLoeys-Dietz?

Isifo i-Loeys-Dietz's syndrome sisifo esingumfuziselo esibangelwa kukutshintsha kwemfuza (impazamo) kuhlobo olunye lwesihlanu. Ezi zofuzo zintlanu zinoxanduva lokwenza ii-receptors kunye nezinye iimolekyuli kwindlela yokuguqula ukukhula kwe-beta (TGF-beta). Le ndlela ibalulekile ekukhuleni okufanelekileyo kunye nophuhliso lwezicubu zomzimba. Ezi zofuzo zezi:

• Iqela
• Iqela
• I-SMAD-3
• Iqela
• Iqela

Ukuphazamiseka kunepateni ebalulekileyo yelifa. Oku kuthetha ukuba ikopi enye kuphela yemfuza eguqulweyo yanele ukubangela ukuphazamiseka. Ukuba une-Loeys-Dietz syndrome, kukho iipesenti ezingama-50 zokuba umntwana wakho naye abe nesi sifo. Nangona kunjalo, malunga neepesenti ezingama-75 zamatyala e-Loeys-Dietz syndrome ayenzeka kubantu abangenayo imbali yosapho yesifo. Endaweni yoko, isiphene semfuza senzeka ngokuzenzekelayo esibelekweni.

Isifo seLoeys-Dietz kunye nokukhulelwa

Kubafazi abanesifo seLoeys-Dietz, kuyacetyiswa ukuba uphonononge ubungozi bakho nomcebisi ngemfuzo ngaphambi kokukhulelwa. Kukho iindlela zokuvavanya ezenziwa ngexesha lokukhulelwa ukumisela ukuba ngaba umntwana uya kuba nengxaki.

Umfazi onesifo i-Loeys-Dietz syndrome uya kuba nomngcipheko ophezulu wokuqhekeka kwe-aortic kunye nokuqhekeka kwesibeleko ngexesha lokukhulelwa kwaye kanye emva kokubeleka. Kungenxa yokuba ukukhulelwa kubeka uxinzelelo olonyukayo entliziyweni nakwimithambo yegazi.

Abasetyhini abanesifo se-aortic okanye iziphene zentliziyo kufuneka baxoxe ngomngcipheko kugqirha okanye kugqirha ngaphambi kokuba baqwalasele ukukhulelwa. Ukukhulelwa kwakho kuya kuthathwa "njengomngcipheko omkhulu" kwaye kuya kufuna ukubekwa esweni okhethekileyo. Amanye amayeza asetyenziswa kunyango lwe-Loeys-Dietz syndrome nayo akufuneki isetyenziswe ngexesha lokukhulelwa ngenxa yomngcipheko wokukhubazeka kokuzalwa kunye nelahleko yomntwana.

Inyangwa njani iLoeys-Dietz Syndrome?

Kwixesha elidlulileyo, abantu abaninzi abane-Loeys-Dietz syndrome bafumanisa ngempazamo ukuba bane-Marfan's syndrome. Kuyaziwa ngoku ukuba isifo seLoeys-Dietz sisusela kwiinguqu ezahlukeneyo zemfuza kwaye kufuneka zilawulwe ngokwahlukileyo. Kubalulekile ukudibana nogqirha oqhelene nengxaki ukuze ufumane isicwangciso sonyango.

Akukho lonyango kwesi sifo, ke unyango lujolise ekuthinteleni nasekunyangeni iimpawu. Ngenxa yomngcipheko omkhulu wokuqhekeka, umntu onale meko kufuneka alandelwe kufutshane ukubeka esweni ukwakheka kwe-aneurysms kunye nezinye iingxaki. Ukubeka iliso kunokubandakanya:

• i-echocardiograms yonyaka okanye kabini
• I-computed tomography angiography yonyaka (i-CTA) okanye i-magnetic resonance angiography (MRA)
• X-reyi yomlomo wesibeleko

Ngokuxhomekeka kwiimpawu zakho, ezinye iindlela zonyango kunye nokuthintela kunokubandakanya:

• amayeza ukunciphisa uxinzelelo kwimithambo ephambili yomzimba ngokunciphisa ukubetha kwentliziyo kunye noxinzelelo lwegazi, ezinje nge-angiotensin receptor blockers okanye i-beta-blockers
• utyando lwemithambo njengokutshintsha kwengcambu ye-aortic kunye nokulungiswa kwemithambo yegazi kwi-aneurysms
• ukuthintela umthambo, ezinje ngokuphepha ukhuphiswano kwezemidlalo, ukunxibelelana nemidlalo, ukwenza umthambo ukudinwa, kunye nokuzilolonga okunyanzela izihlunu, njenge-pushups, pullups, kunye neesitup
• imisebenzi elula yentliziyo njengokukhwela intaba, ukuhamba ngeebhayisikile, ukubaleka, nokudada
• utyando lwamathambo okanye ukudibanisa iintsimbi ye-scoliosis, ukukhubazeka kweenyawo, okanye iikhontrakthi
• amayeza okwaliwa kunye nokubonisana ne-allergist
• ulungiso lwenyama ukunyanga ukungazinzi komqolo womlomo wesibeleko
• thethana nengcali yesondlo Imiba yesisu

Yise kude

Akukho bantu babini bane-Loeys-Dietz syndrome abaya kuba neempawu ezifanayo. Ukuba wena okanye ugqirha wakho ukrokrela ukuba une-Loeys-Dietz syndrome, kuyacetyiswa ukuba udibane nesazi semfuzo esiqhelene neziphazamiso ezinxulumene nezicubu. Ngenxa yokuba isifo samkelwa nje ngo-2005, oogqirha abaninzi abanako ukusazi. Ukuba uguquko lufunyenwe, kuyacetyiswa ukuba kuvavanywe amalungu osapho kuguquko olufanayo.

Njengoko izazinzulu zifunda ngakumbi ngesi sifo, kulindeleke ukuba ukuxilongwa kwangaphambili kuya kuba nakho ukuphucula iziphumo zonyango kwaye kukhokelele kukhetho lonyango olutsha.