Njengomzali, cishe uhlala ucabanga ngempilo kanye nentuthuko yengane yakho. Ngezinye izikhathi, sibhekana nezimo ezingavamile kakhulu esingazizwa kakhulu ngazo. Esinye sezimo ezingavamile kodwa ezibalulekile zofuzo yiCornelia de Lange Syndrome, noma `(CdLS)` ngamafuphi. Ngaphambi kokuba sesabe ngalokhu, ake sixoxe ngakho kalula nangokucacile futhi siqonde ukuthi kuyini.
Iyini ngempela i-Cornelia de Lan's syndrome (CdLS)?
Kalula nje, `(CdLS)` yisimo esingavamile kakhulu sezakhi zofuzo esiba khona lapho kuzalwa. Singathinta izingxenye eziningana zomzimba wengane. Uma sikhuluma iqiniso, sibangelwa ushintsho (ukuguquka) kwezakhi zofuzo eziningana ezihlobene nokukhula komzimba wethu.
Lesi simo singabonakala ngezindlela ezimbili eziyinhloko. Esinye isimo esilula , kanti esinye isimo esijwayelekile . Esikhathini esiningi, uma sikhuluma ngalesi sifo, sikhuluma ngesimo esijwayelekile. Kodwa-ke, izingane ezinesimo esilula nazo zingabonisa lezi zimpawu ezifanayo, kodwa ngezinga elincane.
Izingane ezine-CdLS zivame ukuzalwa zincane ngesisindo nangosayizi. Ububanzi bekhanda lazo bungase bube buncane kunobomntwana ojwayelekile. Ngokwezokwelapha, lokhu kubizwa ngokuthi i-microcephaly . Ngaphezu kwalezi zinguquko zomzimba, kungase kube nezinselele ezithile zengqondo nezokuziphatha. Ezinye izingane zingase zibe nokubambezeleka kokukhuluma.
Ziyini izimpawu zalesi simo?
Izimpawu ze-'CdLS' zingabonakala ngaphambi noma ngemva kokuzalwa komntwana. Kunezici ezithile ezivamile ekubukekeni kwezingane ezinalesi simo. Zingabona nezinkinga ohlelweni lokugaya ukudla kanye nokuthuthukiswa kwengqondo. Ake sibheke lokhu etafuleni.
| Uhlobo oluyisici | Izinto okufanele uzibone |
|---|---|
| Izici eziyinhloko zomzimba | |
| Ikhanda nobuso | - Ikhanda elincane kunelivamile (i-Microcephaly) - Izinkophe ezinde - Izinkophe ezihlukaniswe phakathi, ezincane noma ezijiyile - Umugqa wezinwele ophansi - Ikhala elifushane nelibheke phezulu - Izindebe ezigobile, ezincane - Amazinyo namehlo aqhelelene kakhulu |
| Ezinye izingxenye zomzimba | - Ukukhula kwezinwele emzimbeni ngokweqile - Izinkinga ngokuthuthukiswa kwezingalo nemilenze - Ukukhubazeka kwenhliziyo - Ulwanga oluqhekekile - I-Cryptorchidism (amasende angakhuli kahle kubafana) |
| Izinkinga Zesisu | |
| Izinkinga ezivamile | - Ukuqunjelwa - Uhudo - Ukuhlanza - Ukugcwalisa isisu - Ukulahlekelwa yisifiso sokudla ngezikhathi ezithile - I-reflux yesisu (i-GERD) |
| Izinkinga zengqondo nezokuziphatha | |
| Ukuziphatha kanye nentuthuko | - Intuthuko ebambezelekile - Ukukhubazeka kokufunda - Izinkinga zokuziphatha - Isifo Sokungakwazi Ukunaka Okungapheli (ADHD) - Ukukhathazeka - Izimo ze-Autism `(Autism)` |
Ngaphezu kwalokho, ezinye izingane zingase zibe nokukhubazeka kokuzwa nokubona (isibonelo, i-myopia).
Kubangelwa yini lokhu? Ingabe kuyifa?
I-CdLS yisimo esingathinta noma ubani, kungakhathaliseki uhlanga noma ubulili. Ezimweni eziningi, sibangelwa ushintsho lwezakhi zofuzo oluvela ngokuzenzakalelayo futhi olungakaze lubonwe emndenini ngaphambili.
Kuze kube manje, sekutholakale izakhi zofuzo ezingaba ngu-7 ezibangela lesi simo esithi `CdLS`. Ingane enalesi simo ingaba nezinguquko kwelinye noma ngaphezulu lala mazakhi zofuzo. Uhlobo kanye nobunzima besifo kuncike ekutheni ushintsho lwezakhi zofuzo lwenzeka kuliphi izakhi zofuzo nokuthi kanjani. Isibonelo, izingane ezinoshintsho ku-`(NIPBL)` zingase zibe nezimpawu ezinzima kakhulu.
Into ebalulekile ukuthi uma ingane eyodwa emndenini ine-'CdLS', amathuba okuba ingane elandelayo ibe nayo aphansi kakhulu (cishe ngo-1-2%).
Kodwa-ke, ezimweni ezingavamile, uma umzali oyedwa enesimo esithi `CdLS`, kunethuba elingu-50% lokuthi ingane izosizuza njengefa. Lokhu kubizwa ngokuthi `(Autosomal dominant)` ifa.
Ungasithola kanjani lesi sifo?
Uma usola ukuthi ingane yakho inalezi zimpawu, isinyathelo sakho sokuqala kufanele kube ukubona udokotela wezingane .
Udokotela uzoqala ngokuhlolisisa ingane bese ekubuza ngomlando wezokwelapha wengane yakho nomndeni wayo. Bazobheka ngqo izimpawu zomzimba ezihlobene ne-CdLS.
Ngemuva kwalokho, ukuhlolwa kofuzo kunganconywa ukuqinisekisa ukuxilongwa. Lokhu kubheka kakhulu izinguquko kulezi zakhi zofuzo:
- `I-NIPBL`
- `SMC1A`
- `RAD21`
- `SMC3`
- `I-HDAC8`
Ngesikhathi sokukhulelwa, ukuhlolwa kwe-ultrasound phakathi kwamasonto angu-18-20 ngezinye izikhathi kungabona ukukhubazeka ebusweni noma ezithweni zomntwana. Lokhu kunganikeza izinkomba ezithile mayelana ne-CdLS.
Iphathwa kanjani?
Kubalulekile ukwazi lokhu: Akukho ukwelashwa okuqondile okungayelapha ngokuphelele i-CdLS. Kodwa-ke, lokho akusho ukuthi akukho esingakwenza. Umgomo oyinhloko wokwelashwa ukuphatha izimpawu zengane nokuyisiza iphile impilo enempilo nejabulisayo ngangokunokwenzeka.
Udokotela oyedwa akanele kulokhu. Ithimba lochwepheshe kanye nabelaphi abavela emikhakheni eyahlukene bayahlangana ukuze bakhe uhlelo lokwelapha olungcono kakhulu lwengane. Leli qembu lingafaka abantu abanjengalaba:
- Odokotela bezingane
- Odokotela benhliziyo - ngezinkinga zenhliziyo
- Abelaphi bomzimba - ukuthuthukisa ukunyakaza komzimba nokuqinisa imisipha
- Odokotela bezifo zokukhuluma - ngezinkinga zokukhuluma nokuxhumana
- Odokotela Bezifo Zesisu - ngezinkinga zesisu
- Ochwepheshe bamehlo kanye nodokotela abahlinzayo be-ENT
Kwezinye izimo, kungadingeka ukuhlinzwa ukuze kulungiswe i-cleft palate noma i-heart disease. Imithi inganikezwa nezinkinga ezifana ne-asidi yesisu. Zonke lezi zinqumo zenziwa odokotela abahlola ingane yakho.
Ungathini ngekusasa?
Ungase ukhululeke ukuzwa lokhu. Iningi lezingane ezine-'CdLS' liphila isikhathi esijwayelekile sokuphila. Kodwa-ke, ngenxa yokuthi zinezinga elithile lokukhubazeka kwengqondo, zizodinga ukwesekwa nokugadwa okuthile kukho konke ukuphila kwazo, ngisho nasebudaleni. Lokhu kusho ukuzinikeza indawo ephephile yokuhlala nokusebenza, kuyilapho uzinikeza ukuzimela okuthile.
Kodwa-ke, ezimweni ezingavamile, izinkinga ezithile zinganciphisa isikhathi sokuphila. Ikakhulukazi, i-pneumonia ephindaphindayo, ukukhubazeka kwenhliziyo okuzalwe nakho, kanye nezinkinga ezinkulu zokugaya ukudla kusengozini uma kungahlolwanga kahle futhi kwelashwa.
Ngakho-ke, into ebaluleke kakhulu ukugcina ingane yakho ingaphansi kweseluleko nokunakekelwa okufanele kwezokwelapha. Uma wenza kanjalo, ingane yakho izoba nethuba elihle lokuphila impilo ende nejabulisayo.
Umlayezo Wokuya Nawe Ekhaya
- I-Cornelia de Lange Syndrome (CdLS) yisimo esingavamile sofuzo esiba khona kusukela ekuzalweni.
- Izimpawu zingahluka kakhulu kuye ngengane. Ezinye zingase zibe nezimpawu ezincane, kanti ezinye zingase zibe nezimpawu ezinzima.
- Nakuba kungekho ikhambi eliqondile lalokhu, ukulawula izimpawu kungasiza ingane ukuba iphile impilo engcono.
- Ukusekelwa yithimba lodokotela abangochwepheshe kanye nabelaphi kubalulekile kulokhu.
- Uma unokungabaza ngengane yakho, ungalibali futhi uthintane nodokotela wezingane. Ngokunakekelwa okufanele nothando, lezi zingane zingaphila ngenjabulo.
💬 Comments (0)
Awekho amazwana athunyelwe okwamanje. Faka amazwana akho lapha okokuqala ngqa.
Engeza amazwana akho