Ngamanye amaxesha, njengabazali, siyakhathazeka kancinci xa sibona ubuso bosana olusandul’ ukuzalwa okanye iminwe ibekwe ngendlela eyahlukileyo kancinci, akunjalo? Kwangaxeshanye, oogqirha bathi ezinye iintsana "zinomngxuma omncinci entliziyweni." Namhlanje sithetha ngemeko yemfuza engaqhelekanga edibanisa ezi mpawu kwaye ibikwe kwiintsapho ezimbalwa kakhulu kwihlabathi liphela. Oku kubizwa ngokuba yiChar Syndrome kwisayensi yezonyango. Musani ukoyika, masiqonde yonke into ngale nto ngokulula.
Kutheni oku kusenzeka? Yintoni isizathu sale nto?
Ngamafutshane, lonke ilungu lomzimba wethu, lonke ilungu, linemiyalelo ngaphakathi emizimbeni yethu malunga nendlela ekufuneka ikhule ngayo. Ezi gene sizibiza ngokuba zii-genes. Ngoko ke, le Cha syndrome ibangelwa lutshintsho, okanye utshintsho, kwi-gene ethile ebizwa ngokuba yi-'TFAP2B'. Le gene yiyo eyalela umntwana ukuba enze iproteni efunekayo ukuze ubuso bakhe, amalungu, kunye nentliziyo yakhe ikhule ngokufanelekileyo xa ekhula esibelekweni.
Kukho iindlela ezimbini eziphambili ezinokwenzeka ngayo le meko:
1. Ufuzo: Umntwana ozelwe ngumama okanye utata one-Cha syndrome unethuba elingama-50% lokufumana esi sifo. Oku kuthetha ukuba umntwana unokuzuza ilifa lesiphene esikwelo jini.
2. De novo: Ngamanye amaxesha, nokuba akukho mntu kusapho onale meko, utshintsho olutsha kwi-'TFAP2B' gene lunokwenzeka ngengozi xa umntwana ekhulelwe esibelekweni. Nangona kunjalo, umntwana unokuba ne-Cha syndrome.
Ziziphi iimpawu eziphambili zoku?
I-Cha syndrome ichaphazela kakhulu amalungu amathathu omzimba: ubuso, izandla kunye nentliziyo. Masizijonge ngokwahlukeneyo ezi zinto.
| Inxalenye yomzimba echaphazelekayo | Iimpawu ezibonakalayo |
|---|---|
| Iimpawu zobuso |
|
| Iimpawu Zesandla | Uphawu oluqhelekileyo olubonwa kubantu abaninzi ngumnwe ophakathi omfutshane kakhulu okanye ongekhoyo. Nangona kuye kwaxelwa ezinye iinguqulelo zamalungu, aziqhelekanga kakhulu. |
| Imeko yentliziyo | Iintsana ezininzi zinesifo sentliziyo esibizwa ngokuba yiPatent Ductus Arteriosus (PDA) . Ngamafutshane, xa umntwana esesibelekweni, kukho unxibelelwano oluncinci phakathi kwemithambo yegazi emibini ephambili ethwala igazi entliziyweni. Oku kuya kuvala ngokwako kwiintsuku ezimbalwa emva kokuzalwa. Kodwa kule meko, umngxuma uhlala uvulekile. Siwubiza ngokuba yiPDA. |
Ukuba ayinyangwa, ezinye iintsana ezine-PDA zinokuba neengxaki ezifana nokuphefumla ngokukhawuleza, ubunzima bokutya, kunye nokuncipha kancinci. Kwiimeko ezinzima, oku kunokuqhubela phambili ekubeni kuphele intliziyo.
Ifunyaniswa njani le meko?
Ukuba ugqirha wakho ukrokrela oku xa ehlola umntwana wakho, unokukuthumela kwingcali yemfuza okanye kumcebisi wezemfuza.
Apho, uvavanyo lwemfuza lunokuqinisekisa ngokuqinisekileyo ukuba kukho isiphene kwi-'TFAP2B' gene ebangela le meko. Ngenxa yesi sizathu, kudla ngokuthathwa isampuli yegazi, ulusu okanye izicubu zeenwele.
Emva kokufumanisa isifo, ugqirha unokucebisa iimvavanyo ezininzi ukuqinisekisa impilo yomntwana:
- Ukuhlolwa kwamazinyo: Jonga ukuba akukho ngxaki na malunga nokukhula kwamazinyo emva kweminyaka emi-3.
- Uvavanyo lwamehlo: Jonga ukuba akukho strabismus okanye iingxaki zokubona.
- Uvavanyo lokuva: Jonga ukuba akukho ngxaki yokuva.
- Ukuhlolwa kwentliziyo: Jonga i-PDA okanye ezinye izifo zentliziyo.
- Uvavanyo lomzimba: Jonga ezinye iingxaki ezimalunga namalungu omzimba.
- Uvavanyo lweengxaki zokulala kunye nokuma kwentloko kunye nobukhulu bayo .
Ukuba umntwana wakho unale meko, kubaluleke kakhulu ukuthetha nogqirha wakho malunga nokuba olu vavanyo kufuneka lwenziwe kangaphi.
Zeziphi iindlela zonyango ezikhoyo?
Okokuqala, aba bantwana abadingi naluphi na unyango olukhethekileyo ngenxa yotshintsho ebusweni okanye kwiminwe yabo. Nangona kunjalo, xa umntwana ekhula kancinci, kukho ithuba lokuba ahlekiswe aze axhatshazwe ngabanye abantwana esikolweni okanye kuluntu. Ke ngoko, njengabazali, kubaluleke kakhulu ukuba sikuthathele ingqalelo oku kwaye sincede ekwakheni amandla engqondo yomntwana.
Nangona kunjalo, i-PDA entliziyweni ifuna unyango. Kukho iindlela ezininzi eziphambili ezisetyenziswa ngoogqirha ukwenza njalo.
| Indlela yonyango | Inkcazo elula |
|---|---|
| Amayeza | Ii-NSAID zisetyenziselwa ukuvala imingxunya ye-PDA kwiintsana ezizelwe ngaphambi kwexesha. Nangona kunjalo, le ndlela ayisebenzi kwiintsana ezizelwe ixesha elizeleyo, abantwana abadala, okanye abantu abadala. |
| Utyando | Ugqirha wenza umngxuma omncinci phakathi kweembambo ukuze afikelele entliziyweni aze awuvale umngxuma ovulekileyo ngezititshi okanye iikliphu. |
| Inkqubo yeCatheter | Le yindlela elula kuneyotyando. I-catheter (ityhubhu encinci nethambileyo) idluliselwa ngemithambo yegazi esesinqeni ukuya entliziyweni, kwaye kufakwa iplagi encinci okanye ikhoyili kuyo ukuze kuvalwe umngxuma. |
| Ukulinda Ngokucothayo | Ngamanye amaxesha, ukuba umngxuma we-PDA mncinane kakhulu kwaye awubangeli ezinye iingxaki zempilo, ugqirha usenokugqiba ekubeni angenzi nto ngaphandle kokujonga imeko ngokwenza uvavanyo. |
Umyalezo Wokuya Ekhaya
- I-Cha syndrome yimeko engaqhelekanga kakhulu yemfuza. Musa ukoyika ukuva ngayo.
- Oku kubandakanya kakhulu utshintsho kwinkangeleko yobuso, izandla (ingakumbi umnwe omncinci), kunye nentliziyo (imeko ye-PDA).
- Ukuba ugqirha wakho unamathandabuzo, uvavanyo lwemfuza lunokukufumanisa ngokuchanekileyo oku.
- Nangona utshintsho ebusweni nasezandleni lusenokungadingi unyango, imeko ye-PDA entliziyweni idla ngokuba yiyo.
- Kubaluleke kakhulu ukuba umntwana wakho ahlolwe zonke izifo ngexesha elifanelekileyo aze alandele imiyalelo kagqirha.
- Njengabazali, luxanduva lwethu ukubonelela abantwana bethu ngempilo yengqondo entle kunye nempilo yomzimba.
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