Ngaba uneengxaki zezandla zakho nentliziyo yakho? Mhlawumbi yiHolt-Oram Syndrome!

Ngamanye amaxesha sinezifo esingenakuzicinga, akunjalo? Namhlanje siza kuthetha ngemeko engaqhelekanga, kodwa kubalulekile ukwazi ngayo. Ukuba uneengxaki ezithile ngentliziyo yakho kunye nokungahambi kakuhle esandleni sakho, esihlahleni okanye engalweni, unobangela usenokuba yi-'Holt-Oram Syndrome'. Ungakhathazeki, masithethe ngale nto ngokweenkcukacha.

Yintoni iHolt-Oram Syndrome?

Ngamafutshane, i-Holt-Oram syndrome yimeko engaqhelekanga kakhulu, ezalwa nayo . Ichaphazela kakhulu amathambo ezandla zakho, izandla, neengalo, kunye nentliziyo yakho. Khawuthelekelele, abanye abantu banokuba neengxaki ezithile emathanjeni esandla esinye. Isenokuba kwicala elinye kuphela, okanye inokuba macala omabini. Abanye abantu basenokuba bengenawo umnwe, okanye ubhontsi wabo unokuba mde njengeminye iminwe. Ayipheleli apho, inokuba neengxaki zentliziyo. Ezi zifo zentliziyo zinokuba ziziphene kwisakhiwo sentliziyo, okanye kunokubakho ukungalungelelani kwimigudu yombane elawula ukubetha kwentliziyo. Le meko ikwabizwa ngamanye amagama aliqela, umzekelo `(Atrio-digital dysplasia)`, `(Cardiac-limb syndrome)`, okanye `(Heart-hand syndrome, type 1)`. Kodwa igama elisetyenziswa kakhulu yiHolt-Oram Syndrome.

Zithini iimpawu zale meko?

Iimpawu zeHolt-Oram Syndrome zinokwahluka kumntu nomntu . Kwabanye abantu, ezi mpawu zisenokungabonakali ngokwaneleyo ukuba zibonwe. Kwiimeko ezinjalo, oogqirha banokuzichonga ngokuchanekileyo kuphela ngovavanyo olukhethekileyo olufana novavanyo lwe-`(X-ray)`, `(CT scan)` (CT scan) okanye `(MRI)` (MRI).

Iingxaki ezinxulumene namathambo (izandla, iingalo)

Ukuba une-Holt-Oram syndrome, ubuncinane elinye lamathambo esihlathi sakho lisenokuba alikakhuli kakuhle . Ukongeza, usenokuba nezinye iingxaki zamathambo, ezifana nezi:

• Ukungaqheleki kakuhle kwi-collarbone okanye kwiiblades zamagxa.
• Isandla esahlulwe. Iminwe isenokubonakala ngathi idibene.
• Ukungakwazi ukolula okanye ukujikeleza ngokupheleleyo ingalo echaphazelekayo.
• Ukugoba komqolo, okufana nokugoba (kyphosis) okanye ukugoba komqolo ecaleni (scoliosis).
• Ukungabikho kobhontsi omkhulu, okanye ubhontsi omkhulu ukuba mde kunezinye iinzwane kwaye ubekeke ngendlela eyahlukileyo.
• Ukubakho kwamathambo athile kuphela engalweni okanye ukungabikho kwamathambo.
• Ukungaphumeleli kwamathambo engalo engasentla ekukhuleni kakuhle.

Khawucinge nje, xa umntwana omncinci ezalwa, akanaso isithupha esinye, okanye sahlukile kweseminye iminwe. Okanye kunzima ukugoba isandla kakuhle. Ezi zezinye zeengxaki zamathambo esithetha ngazo.

Iingxaki zentliziyo

Nge-Holt-Oram SyndromeAbantu abaninzi baneengxaki ezithile zentliziyo. Eyona ixhaphakileyo kwezi ngumngxuma eludongeni owahlula amacala asekhohlo nasekunene entliziyo, obizwa ngokuba yi-septum. Kukho iintlobo ezimbini zemingxunya:

• I-Atrial septal defect: Oku kuphakathi kwamagumbi amabini aphezulu entliziyo (i-atria).
• Ingxaki ye-Ventricular septal: Oku kuphakathi kwamagumbi amabini (ii-ventricles) ezantsi kwentliziyo.

Ngamafutshane, intliziyo ineegumbi ezine. Ezimbini phezulu nezimbini ezantsi. Okwenzekayo apha kukuba imingxuma yakheka eludongeni phakathi kwezi gumbi. Iimpawu ziyahluka ngokuxhomekeke kubukhulu bezi gumbi.

Abanye abantu banokuba nesifo sokuhamba kwentliziyo. Oku kuchaphazela iimpulselelo zombane ezilawula isigqi sentliziyo. Oku kunokubangela isantya sentliziyo esicothayo ngokungaqhelekanga (bradycardia) okanye ukubetha kwentliziyo okukhawulezayo nokungaqhelekanga (atrial fibrillation). Le meko inokubakho xa uzalwa okanye ivele ngokuhamba kwexesha. Ngoko ke kubalulekile ukuba iqela lakho lezonyango likujonge oku ubomi bakho bonke.

Isifo sentliziyo esinxulunyaniswa neHolt-Oram syndrome sinokubangela iimpawu ezifana nezi:

• Ukungaphumeleli ukukhula.
• Ukudinwa kakhulu, ukudinwa.
• Uxinzelelo lwegazi oluphezulu emiphungeni (i-pulmonary hypertension).
• Ukuqhawukelwa ngumphefumlo.
• Ukuqhawukelwa ngumphefumlo.

Kutheni i-Holt-Oram Syndrome isenzeka?

Kwiimeko ezininzi, unobangela oyintloko we-Holt-Oram syndrome kukutshintsha, okanye ukuguqulwa, kwi-gene ebizwa ngokuba yi-`TBX5` . Le gene ye-`TBX5` ivelisa iproteni efunekayo ekuphuhlisweni kwamalungu aphezulu (izandla, iingalo) ngexesha lokukhula komntwana ongekazalwa. Kwakhona, le protein ibalulekile kwinkqubo yokwahlula intliziyo ibe ngamagumbi amane. Ngokuchanekileyo, yonke into emzimbeni wethu ilawulwa yi-genes. Ngoko ke, ezi ngxaki zivela xa kukho utshintsho kule gene ithile.

Olu tshintsho lwezakhi zofuzo lwe-`TBX5` lunokudluliselwa kwisizukulwana ukuya kwesinye (oluzuzwe njengelifa) . Oku kuthetha ukuba ukuba umama okanye utata unale meko, kukho ithuba lokuba nomntwana naye abe nayo. Nangona kunjalo, kwiimeko ezininzi, le meko yenzeka xa utshintsho lwezakhi zofuzo olutsha lwenzeka ngaphandle kokuba nabani na kusapho lwakhe abe nesifo ngaphambili . Oku kuthetha ukuba lunokwenzeka ngaphandle kwembali yosapho.

Nangona kunjalo, ngamanye amaxesha abantu abane-Holt-Oram syndrome abakwazi ukufumana utshintsho kwi-gene ye-TBX5. Izazinzulu azikayiqondi ngokupheleleyo indlela aba bantu abasihlakulela ngayo esi sifo. Bacinga ukuba kusenokwenzeka ukuba kungenxa yotshintsho kwezinye iiproteni ezisebenza ne-TBX5.

Sichongwa njani esi sifo ngokuchanekileyo? (Ukuxilongwa)

Ugqirha usenokurhanela ukuba iHolt-Oram syndrome ibangelwa kukuhlolwa komzimba kunye nembali yosapho. Emva koko, banokwenza iimvavanyo ezininzi ukuqinisekisa imeko, ezinje:

• Imifanekiso yezonyango: Izinto ezifana ne-X-reyi yezandla zakho, izihlathi, kunye neengalo.
• I-Echocardiogram (I-Echocardiogram - i-echo): Oku kuthatha imifanekiso yentliziyo ukuze kubonwe ukuba kukho naziphi na iingxaki ngesakhiwo sayo okanye ukusebenza kwayo. Kufana ne-ultrasound scan yentliziyo.
• I-Electrocardiogram (ECG okanye EKG): Oku kulinganisa umsebenzi wombane wentliziyo yakho. Oku kuthetha ukujonga isigqi kunye nesantya sokubetha kwentliziyo yakho.
• Uvavanyo lwemfuza: Olu vavanyo lwenziwa ukuqinisekisa ukuba kukho utshintsho lwemfuza. Oku kudla ngokwenziwa ngokuthatha isampuli yegazi.

Abanye abantu bafunyanwa bene-Holt-Oram syndrome besebancinci . Abanye bafunyanwa sele bekhulile ebomini . Oku kungenzeka xa befumana iimpawu zentliziyo okanye xa kufumaniseka ukuba kukho ukungaqheleki kwamathambo ngengozi ngexesha lovavanyo lwezonyango. Umzekelo, umntu unokuya kugqirha ephefumula kancinci aze ngequbuliso afumane umngxuma entliziyweni yakhe okanye ukungaqheleki kwamathambo esandleni sakhe.

Ngaba ikhona indlela yokunyanga oku? (Unyango)

Inyaniso kukuba okwangoku akukho nyango lweHolt -Oram Syndrome. Nangona kunjalo, unyango luxhomekeke kwiimpawu onazo kunye nokuba zinzima kangakanani. Ungakhathazeki, zininzi izinto onokuzenza ukulawula iimpawu zakho nokwenza ubomi bakho bube lula.

Abanye abantu baneempawu ezibuthathaka kakhulu kwaye abadingi naluphi na unyango olukhethekileyo. Kodwa abanye bafuna unyango oluninzi nonyango . Iinjongo eziphambili zonyango kukubuyisela ukusetyenziswa kwesandla nengalo kangangoko kunokwenzeka kunye nokuthintela iingxaki ezinokwenzeka entliziyweni.

Unyango lungabandakanya oku kulandelayo:

• Amayeza okulwa nokubetha kwentliziyo ngamayeza alawula isantya sentliziyo kunye nesingqisho.
• Ukufakelwa kwesixhobo sezonyango, esifana ne-pacemaker, ukulawula isantya sentliziyo kunye nesingqisho.
• Utyando lokulungisa umngxuma entliziyweni.
• Lungisa iingxaki zamathambo ngokunxiba iibraces okanye utyando.
• Ukufakela iindawo zokwenziwa (iiprosthetics) ukuze zithathe indawo yeendawo ezingekhoyo zesandla okanye zengalo.

Umntu onesi sifo unokufuna uncedo lweengcali ezininzi. Oku kuthetha ukuba unyango lunikezelwa liqela, kungekhona ugqirha omnye kuphela. Eli qela linokubandakanya:

• Iingcali zentliziyo kunye noogqirha bentliziyo: Iingcali kwizifo zentliziyo.
• Iingcali zotyando lwamathambo: Iingcali kwizifo zamathambo .
• Iingcali zabantwana: Oogqirha abanyanga izifo ebantwaneni.
• Iingcali zonyango lomsebenzi: Abantu abanceda abantu ukuba benze imisebenzi yemihla ngemihla efana nokutya nokubhala ngokulula.
• Iingcali zonyango lomzimba: Abo banceda ekuqiniseni amalungu omzimba aneengxaki ezithile kwaye baphucule ukusebenza kwawo.

Ngoku khangela, ngoncedo lwabo bonke aba bantu, isigulana sifumana inkxaso esiyidingayo ukuze siphile ubomi obungcono kangangoko.

Buza kuba njani ubomi kule meko? (Imbono/Ukuqikelela)

Ingqikelelo yabantu abaneHolt-Oram Syndrome iyahluka kakhulu . Oko kukuthi, ayingabo bonke abantu abafanayo. Abanye abantu baneengxaki ezincinci ezihlahleni zabo kwaye bayakwazi ukusebenza ngokuqhelekileyo ngaphandle kwemida yomzimba. Kodwa abanye banokuba neengxaki ezinkulu zamathambo .

Nangona kunjalo, malunga ne-75% yabantu abanale meko baneziphene zentliziyo abazalwa nazo . Abanye abantu abanazo iimpawu kwaye kufuneka babonane nogqirha wentliziyo rhoqo ukuze bajongwe. Nangona kunjalo, ezinye iziphene zentliziyo zinokuba yingozi ebomini kwaye zifune utyando. Yiyo loo nto kubaluleke kakhulu ukulandela imiyalelo kagqirha wakho ngokuchanekileyo.

Ngaba oku kungathintelwa?

I-Holt-Oram Syndrome idla ngokubangelwa kukuguquka kwezakhi zofuzo, ngoko ke ayinakuthintelwa ngokupheleleyo . Ukuba unesi simo kwaye ukhulelwe, umntwana wakho unethuba elimalunga nama-50% lokudlulisela utshintsho . Oku kuthetha ukuba malunga nomnye kubantwana ababini uya kuba nale meko. Nangona kunjalo, uvavanyo lwezakhi zofuzo ngaphambi kokukhulelwa lunokufumanisa utshintsho. Ugqirha wakho unokucebisa neengcebiso zezakhi zofuzo kumalungu osapho lwakho asondeleyo. Oku kuya kunceda ukufundisa amanye amalungu osapho ngesi simo kwaye kubakhokele ukuba bavavanywe ukuba kuyimfuneko.

Sifana nosapho singaziqhelanisa njani nale meko?

Xa kukho utshintsho emzimbeni kwinkangeleko, ingakumbi ebantwaneni, banokuziva beneentloni kwaye bangazithembi . Oku kunokuchaphazela nolwalamano lwabo nabantu. Nazi ezinye izinto onokuzenza ukunceda ngexesha elinje:

• Bona ingcali yezempilo yengqondo : Umntwana wakho angafumana uncedo lokuqonda nokulawula iimvakalelo zakhe.
• Thetha ngokukhululekileyo nomntwana wakho ngale meko: Mchazele ngayo ngokulula, ngendlela abanokuyiqonda. Thetha izinto ezinje, "Unomahluko omncinci esandleni sakho, yinto ozelwe nayo, kwaye ayilotyala lakho."
• Yazisa abantu abakufutshane nomntwana: Xelela ootitshala, abahlobo, kunye nezalamane ngale meko ukuze nabo bakwazi ukumxhasa umntwana.
• Joyina iqela lenkxaso okanye umbutho wesizwe okhuthazayo: Oku kuya kukunceda udibane nezinye iintsapho ezidlula kwimeko efanayo nawe kwaye wabelane ngamava akho.
• Qinisekisa ukuba umntwana wakho unesicwangciso esikolweni sokumxhasa ukuze afunde kwaye abe nobuhlobo nabanye abantu, angabi nakuxhatshazwa: Thetha nootitshala kwaye uqinisekise oku.
• Ziqhelise ukuphendula imibuzo xa umntu ekubuza ngale nto: Umzekelo, ungaziqhelisa ukunika impendulo elula efana nale, "Ndazalwa ndinethambo lesandla elahlukileyo kunabanye abantu."

I-Holt-Oram syndrome yimeko ebangela ukungaqheleki kwamathambo ezandleni, ezihlahleni nasezingalweni, kunye nesifo sentliziyo. Ukuba umntwana wakho unesi sifo, oogqirha banokucebisa iindlela zokuphucula ukusebenza kwezandla zakhe neengalo zakhe . Banokuxilonga namanye amalungu osapho ukunceda ukuthintela iingxaki ezivela kwiziphene zentliziyo.

Okokugqibela, yintoni ekufuneka uyikhumbule (Umyalezo Wokuya Ekhaya)

I-Holt-Oram Syndrome yimeko enzima nengaqhelekanga. Nangona kunjalo, kubalulekile ukuyiqonda, ingakumbi ukuba umntu kusapho lwakho uneengxaki zesandla okanye zentliziyo ezingaziwayo . Khumbula, okukhona uyibona kwangoko le meko, kokukhona kulula ukufumana unyango kunye nenkxaso oyifunayo ukuze uhlangabezane nayo.

Ungaze uzive unesizungu. Ngoncedo loogqirha, iingcali zonyango, kunye namaqela enkxaso, unokukwazi ukumelana nale meko ngempumelelo. Eyona nto iphambili kukulandela iingcebiso zonyango ezifanelekileyo kunye nokugcina isimo sengqondo esihle.

Ukuba uneminye imibuzo malunga noku, ungathandabuzi ukuthetha nogqirha wakho. Baza kukunika lonke ulwazi oludingayo.

Isifo sikaHolt -Oram, iingxaki zesandla, isifo sentliziyo, utshintsho lwemfuza, iziphene zokuzalwa, iingxaki zamathambo