Ingabe unezinkinga ngezandla zakho kanye nenhliziyo yakho? Mhlawumbe yi-Holt-Oram Syndrome!

Ngezinye izikhathi sinezifo esingenakuzicabanga, akunjalo? Namuhla sizokhuluma ngesimo esingavamile, kodwa okufanele kakhulu ukusazi. Uma unezinkinga ezithile ngenhliziyo yakho kanye nokukhubazeka esandleni sakho, esihlakaleni noma engalweni, khona-ke imbangela ingaba 'yi-Holt-Oram Syndrome'. Ungakhathazeki, ake sixoxe ngalokhu ngokuningiliziwe.

Iyini i-Holt-Oram Syndrome?

Kalula nje, i-Holt-Oram syndrome iyisimo esingavamile kakhulu, esizalwa naso . Sithinta kakhulu amathambo ezandla zakho, izihlakala, nezingalo, kanye nenhliziyo yakho. Cabanga, abanye abantu bangase babe nokukhubazeka okuthile emathanjeni esandla esisodwa. Kungase kube ohlangothini olulodwa kuphela, noma kungaba kuzo zombili izinhlangothi. Abanye abantu bangase bangabi nomunwe, noma isithupha sabo singase sibe side njengeminye iminwe. Akukhona lokho kuphela, kungase futhi kube nezinkinga zenhliziyo. Lezi zifo zenhliziyo zingase zibe amaphutha esakhiweni senhliziyo, noma kungase kube nokungahambi kahle kwezinye izinzwa zikagesi ezilawula ukushaya kwenhliziyo. Lesi simo sibizwa nangamanye amagama amaningana, isibonelo `(Atrio-digital dysplasia)`, `(Cardiac-limb syndrome)`, noma `(Heart-hand syndrome, uhlobo 1)`. Kodwa igama elivame ukusetshenziswa kakhulu yi-Holt-Oram Syndrome.

Ziyini izimpawu zalesi simo?

Izimpawu ze-Holt-Oram Syndrome zingahluka kumuntu nomuntu . Kwabanye abantu, lezi zimpawu zingase zingabi sobala ngokwanele ukuba zibonakale. Ezimweni ezinjalo, odokotela bangazihlonza ngokunembile kuphela ngokuhlolwa okukhethekile njengokuhlolwa kwe-`(X-ray)`, `(CT scan)` (CT scan) noma `(MRI)` (MRI).

Izinkinga ezihlobene namathambo (izandla, izingalo)

Uma une-Holt-Oram syndrome, okungenani ithambo elilodwa lesihlakala sakho kungenzeka ukuthi alikakhuli kahle . Ngaphezu kwalokho, ungase ube nezinye izinkinga zamathambo, njenge:

• Ukukhubazeka kwethambo lentamo noma amahlombe.
• Isandla esihlukanisiwe. Iminwe ingase ibonakale sengathi ihlanganiswe ndawonye.
• Ukungakwazi ukwelula noma ukuzungeza ingalo ethintekile ngokugcwele.
• Ukugoba komgogodla, njengokugoba (kyphosis) noma ukugoba komgogodla eceleni (scoliosis).
• Ukungabikho kozwane olukhulu, noma uzwane olukhulu olude kunezinye izinzwane futhi lubekwe ngendlela ehlukile.
• Ukuba khona kwamathambo athile kuphela engalweni noma ukungabikho kwamathambo.
• Ukwehluleka kwamathambo engalo engenhla ukukhula kahle.

Cabanga nje, lapho kuzalwa umntwana omncane, akanaso isithupha esandleni esisodwa, noma sihlukile kweminye iminwe. Noma kunzima ukugoba isandla kahle. Lezi ezinye zezinkinga zamathambo esikhuluma ngazo.

Izinkinga zenhliziyo

Nge-Holt-Oram SyndromeAbantu abaningi banohlobo oluthile lokukhubazeka kwenhliziyo. Okuvame kakhulu kulokhu imbobo odongeni ehlukanisa izinhlangothi zesobunxele nesokudla zenhliziyo, ebizwa ngokuthi i-septum. Kunezinhlobo ezimbili zembobo:

• I-Atrial septal defect: Lokhu kuphakathi kwamakamelo amabili aphezulu enhliziyo (i-atria).
• Iphutha le-septal ye-Ventricular: Lokhu kuphakathi kwamakamelo amabili (ama-ventricles) phansi kwenhliziyo.

Kalula nje, inhliziyo inezindawo ezine. Ezimbili phezulu kanye nezimbili phansi. Okwenzekayo lapha ukuthi kwakheka imigodi ezindongeni eziphakathi kwalezi zindawo. Izimpawu ziyahlukahluka kuye ngobukhulu balezi zimbobo.

Abanye abantu bangase babe nesifo sokuhambisa inhliziyo. Lokhu kuthinta imizwa kagesi elawula isigqi senhliziyo. Lokhu kungabangela ukushaya kwenhliziyo okuhamba kancane ngendlela engavamile (bradycardia) noma ukushaya kwenhliziyo okusheshayo nokungajwayelekile (atrial fibrillation). Lesi simo singaba khona ekuzalweni noma sikhule ngokuhamba kwesikhathi. Ngakho-ke kubalulekile ukuthi ithimba lakho lezokwelapha liqaphele lokhu kukho konke ukuphila kwakho.

Isifo senhliziyo esihambisana ne-Holt-Oram syndrome singase sibangele nezimpawu ezifana nalezi:

• Ukwehluleka ukuchuma.
• Ukukhathala ngokweqile, ukukhathala.
• Umfutho wegazi ophezulu emaphashini (umfutho wegazi ophezulu wamaphaphu).
• Ukuphelelwa umoya.
• Ukuphelelwa umoya.

Kungani kwenzeka i-Holt-Oram Syndrome?

Ezimweni eziningi, imbangela eyinhloko ye-Holt-Oram syndrome ushintsho, noma ukuguquka kwezakhi zofuzo okuthiwa i-`TBX5` . Le zakhi zofuzo ze-`TBX5` ikhiqiza iphrotheni edingekayo ekukhuleni kwezingalo ezingaphezulu (izandla, izingalo) ngesikhathi sokukhula kombungu. Futhi, le phrotheni ibalulekile enkambisweni yokuhlukanisa inhliziyo ibe amakamelo amane. Ukuze kube sobala, konke emzimbeni wethu kulawulwa izakhi zofuzo. Ngakho-ke, lezi zinkinga zivela lapho kuba noshintsho kulesi sakhi sofuzo esithile.

Lokhu kuguqulwa kwezakhi zofuzo ze-`TBX5` kungadluliselwa kusuka esizukulwaneni kuya kwesinye (okuzuzwe njengefa) . Lokhu kusho ukuthi uma umama noma ubaba enalesi simo, kunethuba lokuthi nengane nayo izoba naso. Kodwa-ke, ezimweni eziningi, lesi simo senzeka lapho kuvela ukuguquka kwezakhi zofuzo okusha ngaphandle kokuba noma ubani emndenini abe nalesi sifo ngaphambili . Lokhu kusho ukuthi kungenzeka ngaphandle komlando womndeni.

Kodwa-ke, ngezinye izikhathi abantu abane-Holt-Oram syndrome abakwazi ukuthola uguquko ku-TBX5 gene. Ososayensi abakaqondi ngokugcwele ukuthi laba bantu bahlakulela kanjani lesi sifo. Bacabanga ukuthi kungenzeka ukuthi kungenxa yoguquko kwamanye amaprotheni asebenza ne-TBX5.

Lesi sifo sihlolwa kanjani ngokunembile? (Ukuxilongwa)

Udokotela angase asole i-Holt-Oram syndrome ngemuva kokuhlolwa ngokomzimba kanye nomlando womndeni. Bese, bangenza izivivinyo eziningana ukuqinisekisa isimo, njengokuthi:

• Izithombe zezokwelapha: Izinto ezifana ne-X-ray yezandla zakho, izihlakala, kanye nezingalo.
• I-Echocardiogram (I-Echocardiogram - i-echo): Lokhu kuthatha izithombe zenhliziyo ukuze kubonakale ukuthi kukhona yini izinkinga ngesakhiwo sayo noma ukusebenza kwayo. Kufana nokuskena kwenhliziyo nge-ultrasound.
• I-Electrocardiogram (ECG noma EKG): Lokhu kulinganisa ukusebenza kukagesi kwenhliziyo yakho. Lokhu kusho ukuhlola isigqi kanye nesivinini sokushaya kwenhliziyo yakho.
• Ukuhlolwa kofuzo: Lokhu kuhlolwa kwenziwa ukuqinisekisa ukuthi kukhona yini ukuguquka kofuzo. Lokhu kuvame ukwenziwa ngokuthatha isampula yegazi.

Abanye abantu batholakala benesifo i-Holt-Oram syndrome besebancane . Abanye batholakala kamuva ekuphileni . Lokhu kungenzeka lapho beba nezimpawu zenhliziyo noma lapho kutholakala ukukhubazeka kwamathambo ngengozi ngesikhathi sokuhlolwa okunye kwezokwelapha. Isibonelo, umuntu angase aye kudokotela ephefumula kanzima bese ethola imbobo enhliziyweni yakhe noma ukukhubazeka kwamathambo esandleni sakhe.

Ingabe ikhona indlela yokwelapha lokhu? (Ukwelashwa)

Uma ngikhuluma iqiniso, okwamanje akukho ukwelashwa kwe- Holt-Oram Syndrome. Kodwa-ke, ukwelashwa kuncike ekutheni yiziphi izimpawu onazo nokuthi zimbi kangakanani. Ungakhathazeki, kunezinto eziningi ongazenza ukuze uphathe izimpawu zakho futhi wenze impilo yakho ibe lula.

Abanye abantu banezimpawu ezincane kakhulu futhi abadingi ukwelashwa okukhethekile. Kodwa abanye badinga ukunakekelwa okukhulu kwezokwelapha kanye nokwelashwa . Imigomo eyinhloko yokwelashwa ukubuyisela ukusetshenziswa kwesandla nengalo ngangokunokwenzeka nokuvimbela izinkinga ezingase zenzeke enhliziyweni.

Ukwelashwa kungafaka okulandelayo:

• Imithi yokulwa nokushaya kwenhliziyo yimithi elawula ukushaya kwenhliziyo kanye nesigqi.
• Ukufakelwa kwedivayisi yezokwelapha, njenge-pacemaker, ukulawula ukushaya kwenhliziyo kanye nesigqi.
• Ukuhlinzwa ukulungisa imbobo enhliziyweni.
• Lungisa izinkinga zamathambo ngokugqoka izinsimbi zokubopha noma ngokuhlinzwa.
• Ukufaka izingxenye zokwenziwa (izitho zokufakelwa) ukuze kuthathelwe indawo izingxenye zesandla noma zengalo ezingekho.

Umuntu onalesi simo angadinga usizo lochwepheshe abaningi. Lokhu kusho ukuthi ukwelashwa kunikezwa yithimba elilodwa, hhayi udokotela oyedwa kuphela. Leli thimba lingafaka:

• Odokotela benhliziyo nodokotela abahlinza inhliziyo: Ochwepheshe bezifo zenhliziyo.
• Odokotela abahlinza amathambo: Ochwepheshe bezifo zamathambo .
• Odokotela bezingane: Odokotela abelapha izifo ezinganeni.
• Abelaphi bezemisebenzi: Abantu abasiza abantu ukwenza imisebenzi yansuku zonke njengokudla nokubhala kalula.
• Abelaphi bomzimba: Labo abasiza ekuqiniseni izingxenye zomzimba ezinezinkinga ezithile futhi bathuthukise ukusebenza kwazo.

Manje bheka, ngosizo lwabo bonke laba bantu, isiguli sithola ukwesekwa esikudingayo ukuze siphile impilo engcono kakhulu.

Impilo izoba njani ngalesi simo? (Umbono/Isibikezelo)

Isibikezelo sabantu abane-Holt-Oram Syndrome siyahlukahluka kakhulu . Okusho ukuthi, akubona bonke abantu abafanayo. Abanye abantu banezinkinga ezincane ezingalweni zabo futhi bayakwazi ukusebenza ngendlela evamile ngaphandle kwemingcele yomzimba. Kodwa abanye bangase babe nezinkinga ezinkulu zamathambo .

Kodwa-ke, cishe abantu abangu-75% abanalesi simo banesici sokuzalwa enhliziyweni . Abanye abantu abanazo izimpawu futhi badinga ukubona udokotela wenhliziyo njalo ukuze aqashwe. Kodwa-ke, ezinye izinkinga zenhliziyo zingaba yingozi empilweni futhi zidinga ukuhlinzwa. Yingakho kubaluleke kakhulu ukulandela imiyalelo kadokotela wakho ngqo.

Ingabe lokhu kungavinjelwa?

I-Holt-Oram Syndrome ivame ukubangelwa ukuguquka kwezakhi zofuzo, ngakho-ke ayinakuvinjelwa ngokuphelele . Uma unalesi simo futhi ukhulelwa, ingane yakho inethuba elingama-50% lokudlulisela ukuguquka kwezakhi zofuzo . Lokhu kusho ukuthi cishe ingane eyodwa kwezimbili izoba nalesi simo. Kodwa-ke, ukuhlolwa kwezakhi zofuzo ngaphambi kokubeletha kungabona ukuguquka kwezakhi zofuzo. Udokotela wakho angase futhi ancome ukwelulekwa kwezakhi zofuzo kwamalungu omndeni wakho aseduze. Lokhu kuzosiza ukufundisa amanye amalungu omndeni ngalesi simo futhi kuwaqondise ukuthi ahlolwe uma kudingeka.

Njengomndeni singazivumelanisa kanjani nalesi simo?

Uma kukhona izinguquko zomzimba ekubukekeni, ikakhulukazi ezinganeni, zingazizwa zinamahloni futhi zingazethembi . Kungathinta nobudlelwano bazo nabantu. Nazi ezinye izinto ongazisiza ngesikhathi esinjengalesi:

• Bona uchwepheshe wezempilo yengqondo : Ingane yakho ingathola usizo lokuqonda nokulawula imizwa yayo.
• Khuluma ngokukhululekile nengane yakho ngalesi simo: Chaza ngendlela elula, ngendlela abangayiqonda. Sho izinto ezinjengokuthi, "Unomehluko omncane esandleni sakho, kuyinto owazalwa nayo, futhi akulona iphutha lakho."
• Yazisa abantu ukuthi ingane iseduze: Tshela othisha, abangani, nezihlobo ngalesi simo ukuze nabo bakwazi ukusekela ingane.
• Joyina iqembu lokusekela noma inhlangano kazwelonke yokukhuthaza: Lokhu kuzokusiza uhlangane neminye imindeni ebhekene nesimo esifanayo nawe futhi wabelane ngolwazi lwakho.
• Qiniseka ukuthi ingane yakho inohlelo olukhona esikoleni lokuyisekela ukuze ifunde futhi ibe nobudlelwano nabantu, ingabi nokuhlukunyezwa: Khuluma nothisha futhi uqiniseke ngalokhu.
• Prakthiza ukuphendula imibuzo uma othile ekubuza ngalokhu: Isibonelo, ungazijwayeza ukunikeza impendulo elula njengokuthi, "Ngazalwa nginethambo lesihlakala elihlukile kunawo wonke umuntu."

I-Holt-Oram syndrome yisimo esibangela ukukhubazeka kwamathambo ezandleni, ezihlakaleni nasezingalweni, kanye nesifo senhliziyo. Uma ingane yakho inalesi sifo, odokotela bangasikisela izindlela zokuthuthukisa ukusebenza kwezandla nezingalo zayo . Bangahlola namanye amalungu omndeni ukusiza ukuvimbela izinkinga ezivela ekuphazamisekeni kwenhliziyo.

Okokugcina, okufanele ukukhumbule (Umyalezo Wokuya Ekhaya)

I-Holt-Oram Syndrome iyisimo esiyinkimbinkimbi nesingavamile. Kodwa-ke, kubalulekile ukuqaphela, ikakhulukazi uma othile emndenini wakho enezinkinga zesandla noma zenhliziyo ezingachazeki . Khumbula, uma usheshe uqaphele lesi simo, kuba lula ukuthola ukwelashwa nokusekelwa okudingayo ukuze ubhekane nakho.

Ungalokothi uzizwe unesizungu. Ngosizo lodokotela, abelaphi, namaqembu okusekela, ungabhekana ngempumelelo nalesi simo. Into eyinhloko ukulandela iseluleko sezokwelapha esifanele nokugcina isimo sengqondo esihle.

Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukukhuluma nodokotela wakho. Bazokunikeza lonke ulwazi oludingayo.

I- Holt-Oram Syndrome, ukukhubazeka kwezandla, isifo senhliziyo, ukuguquka kwezakhi zofuzo, ukukhubazeka kokuzalwa, izinkinga zamathambo