Njengomzali, mhlawumbi uhlala ucinga ngempilo nophuhliso lomntwana wakho omncinci. Ngamanye amaxesha, sidibana neemeko ezingaqhelekanga kakhulu esingazivayo kangako ngazo. Enye yezi meko zingaqhelekanga kodwa zibalulekileyo zemfuza yiCornelia de Lange Syndrome, okanye (CdLS) ngamafutshane. Ngaphambi kokuba soyike oku, masithethe ngako ngokulula nangokucacileyo size siqonde ukuba yintoni.
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Yintoni kanye kanye iCornelia de Lan's syndrome (CdLS)?
Ngamafutshane, (CdLS) yimeko yemfuza engaqhelekanga kakhulu ebakho ekuzalweni. Ingachaphazela iindawo ezininzi zomzimba womntwana. Ngokuchanekileyo, ibangelwa lutshintsho (ukuguqulwa) kwiijini ezahlukeneyo ezinxulumene nophuhliso lomzimba wethu.
Le meko inokubonwa kwiindlela ezimbini eziphambili. Enye yimo ethambileyo , enye yimo eqhelekileyo . Uninzi lwexesha, xa sithetha ngesi sifo, sithetha ngemo eqhelekileyo. Nangona kunjalo, abantwana abanemo ethambileyo banokubonisa ezi mpawu zifanayo, kodwa kancinci kancinci.
Iintsana ezine-CdLS zihlala zizalwa zincinci ngobunzima nangobukhulu. Umjikelo wentloko yazo unokuba mncinci kunowomntwana oqhelekileyo. Ngokwezonyango, oku kubizwa ngokuba yi-microcephaly . Ukongeza kolu tshintsho lomzimba, kunokubakho imingeni ethile yengqondo kunye nokuziphatha. Abanye abantwana banokuba nokulibaziseka kokuthetha.
Zithini iimpawu zale meko?
Iimpawu ze-'CdLS' zinokubonakala ngaphambi okanye emva kokuba umntwana ezelwe. Kukho iimpawu ezithile eziqhelekileyo kwinkangeleko yabantwana abanale meko. Banokubona neengxaki kwinkqubo yokugaya ukutya kunye nophuhliso lwengqondo. Masijonge ezi kwitheyibhile.
| Uhlobo oluneempawu | Izinto onokuzibona |
|---|---|
| Iimpawu eziphambili zomzimba | |
| Intloko nobuso | - Intloko encinci kuneqhelekileyo (iMicrocephaly) - Iinkophe ezinde - Iinkophe eziphakathi, ezincinci okanye ezityebileyo - Umgca weenwele osezantsi - Iphendukile, impumlo emfutshane - Imilebe egobileyo, ebhityileyo - Amazinyo namehlo akude kakhulu |
| Amanye amalungu omzimba | - Ukukhula kweenwele emzimbeni ngokugqithisileyo - Iingxaki ngophuhliso lweengalo nemilenze - Iziphene zentliziyo - Intlama eqhekekileyo - I-Cryptorchidism (amasende angakhuliyo kumakhwenkwe) |
| Iingxaki zesisu | |
| Iingxaki eziqhelekileyo | - Ukuqhinwa - Urhudo - Ukuhlanza - Ukuzalisa isisu - Ukulahlekelwa ngumdla ngamanye amaxesha - I-reflux ye-asidi yesisu (GERD) |
| Iingxaki zengqondo nezokuziphatha | |
| Ukuziphatha kunye nophuhliso | - Uphuhliso olulibazisekileyo - Ukukhubazeka kokufunda - Iingxaki zokuziphatha - Ingxaki Yokungakwazi Ukuqwalasela Izinto Ngokugqithisileyo (ADHD) - Ixhala - Iimeko ze-Autism (Autism) |
Ukongeza, abanye abantwana banokuba neengxaki zokuva nokubona (umzekelo, i-myopia).
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I-CdLS yimeko enokuchaphazela nabani na, kungakhathaliseki uhlanga okanye isini. Kwiimeko ezininzi, ibangelwa lutshintsho lwemfuza oluvela ngokungazinzanga kwaye olungazange lubonwe kusapho ngaphambili.
Okwangoku, sele kuchongiwe malunga neejini ezisi-7 ezibangela imeko ethi CdLS. Umntwana onesi sifo unokuba notshintsho kwenye okanye ezingaphezulu kwezi jini. Uhlobo kunye nobunzima besifo buxhomekeke ekubeni utshintsho lwejini lwenzeka kweyiphi ijini kwaye njani. Umzekelo, abantwana abanotshintsho kwijini (NIPBL) banokuba neempawu eziqatha ngakumbi.
Into ebalulekileyo kukuba ukuba umntwana omnye kusapho une-'CdLS', amathuba okuba umntwana olandelayo abe nayo aphantsi kakhulu (malunga ne-1-2%).
Nangona kunjalo, kwiimeko ezingaqhelekanga, ukuba omnye umzali unemeko ethi CdLS, kukho ithuba elingama-50% lokuba umntwana ayifumane. Oku kubizwa ngokuba yi-(Autosomal dominant) inheritance.
Indlela yokuxilonga esi sifo?
Ukuba ukrokrela ukuba umntwana wakho unale mpawu, inyathelo lakho lokuqala kukubona ugqirha wabantwana .
Ugqirha uza kuqala enze uvavanyo olucokisekileyo lomntwana aze akubuze ngembali yempilo yomntwana wakho neyentsapho yakhe. Baza kukhangela ngokukodwa iimpawu zomzimba ezinxulumene ne-CdLS.
Emva koko, uvavanyo lwemfuza lunokucetyiswa ukuqinisekisa ukuxilongwa. Oku ikakhulu kujonga utshintsho kwezi mfuza:
- I-NIPBL
- SMC1A
- RAD21
- SMC3
- HDAC8
Ngexesha lokukhulelwa, i-ultrasound scan phakathi kweeveki ezili-18 ukuya kwezingama-20 ngamanye amaxesha inokubona iingxaki ebusweni okanye emalungeni omntwana. Oku kunokunika ezinye izikhokelo malunga ne-CdLS.
Iphathwa njani?
Kubalulekile ukwazi oku: Akukho nyango luthile olunokunyanga ngokupheleleyo i-CdLS. Nangona kunjalo, oko akuthethi ukuba akukho nto sinokuyenza. Injongo ephambili yonyango kukulawula iimpawu zomntwana nokumnceda aphile ubomi obusempilweni nobonwabisayo kangangoko kunokwenzeka.
Ugqirha omnye akanelanga koku. Iqela leengcali kunye neengcali zonyango ezivela kwiinkalo ezahlukeneyo ziyadibana ukuze zenze isicwangciso sonyango esingcono somntwana. Eli qela linokuquka abantu abafana naba:
- Iingcali zezingane
- Iingcali zentliziyo - zeengxaki zentliziyo
- Iingcali zonyango lomzimba - ukuphucula intshukumo yomzimba nokuqinisa izihlunu
- Iingcali zeengxaki zentetho - kwiingxaki zentetho nonxibelelwano
- Iingcali zeGastroenterologists - ngeengxaki zesisu
- Iingcali zamehlo kunye noogqirha be-ENT
Kwezinye iimeko, kunokufuneka utyando ukuze kulungiswe i-cleft palate okanye isiphene sentliziyo. Amayeza anokunikwa neengxaki ezifana ne-asidi yesisu. Zonke ezi zigqibo zenziwa ngoogqirha abahlola umntwana wakho.
Ungathini ngekamva?
Ungakhululeka xa usiva oku. Uninzi lwabantwana abane-'CDLS' baphila ubomi obuqhelekileyo. Nangona kunjalo, ngenxa yokuba benokukhubazeka kwengqondo okuthile, baya kufuna inkxaso kunye nolawulo ebomini babo bonke, kwanasebudaleni. Oku kuthetha ukubanika indawo ekhuselekileyo yokuhlala nokusebenza, ngelixa bebanika inkululeko ethile.
Nangona kunjalo, kwiimeko ezingaqhelekanga, iingxaki ezithile zinokunciphisa ixesha lokuphila. Ngokukodwa, i-pneumonia ephindaphindayo, iziphene zentliziyo zokuzalwa, kunye neengxaki ezinkulu zokugaya ukutya zisemngciphekweni ukuba azichongwa kwaye zinyangwe ngokufanelekileyo.
Ngoko ke, eyona nto ibalulekileyo kukugcina umntwana wakho ephantsi kweengcebiso zonyango ezifanelekileyo kunye nokhathalelo. Ukuba wenza njalo, umntwana wakho uya kuba nethuba elihle lokuphila ubomi obude nobonwabisayo.
Umyalezo Wokuya Ekhaya
- I-Cornelia de Lange Syndrome (CdLS) yimeko engaqhelekanga yemfuza ebakho ukususela ekuzalweni.
- Iimpawu zingahluka kakhulu kumntwana ngamnye. Ezinye zisenokuba neempawu ezingephi, ngelixa ezinye zinokuba neempawu eziqatha.
- Nangona kungekho ndlela ithile yokunyanga oku, ukulawula iimpawu kunokunceda umntwana aphile ubomi obungcono.
- Inkxaso yeqela loogqirha abaziingcali kunye neengcali zonyango ibalulekile kule nto.
- Ukuba unamathandabuzo ngomntwana wakho, musa ukulibazisa kwaye udibane nogqirha wabantwana. Ngokhathalelo olufanelekileyo nothando, aba bantwana banokuphila ubomi obumnandi.
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