Ngaba umntwana wakho ubonakala ekhula ngokukhawuleza? Masifunde ngeCockayne Syndrome!

Ngamanye amaxesha siziva sisoyika kakhulu xa sibona utshintsho oluthile ekukhuleni kwabantwana bethu, akunjalo? Ingakumbi xa umntwana eziphatha ngendlela eyahlukileyo kwabanye abantwana, okanye xa sibona utshintsho emzimbeni. Namhlanje siza kuthetha ngemeko yezonyango engaqhelekanga kodwa ebaluleke kakhulu ekufuneka siyiqaphele. Le yiCockayne Syndrome. Usenokuba nexhala xa usiva eli gama, kodwa masithethe ngalo ngokulula nangokucacileyo.

Yintoni kanye kanye iCockayne Syndrome?

Ngamafutshane, iCockayne Syndrome yimeko engaqhelekanga kakhulu, ezuzwe njengelifa. Kule meko, iiseli emzimbeni womntwana azikhuli ngendlela eqhelekileyo, kwaye zibonisa iimpawu zokwaluphala ngaphambi kwexesha (progeria) . Khawuthelekelele, nangona esengumntwana omncinci, inkangeleko yakhe kunye nemisebenzi ethile yomzimba iqala ukufana neyomntu omdala.

Kunye nale meko, ezinye iimpawu eziphambili zinokubonakala:

• Uvakalelo ekukhanyeni: Ngokuchanekileyo, ulusu lutsha ngokukhawuleza xa lubekwe elangeni, kwaye namehlo aziva engonwabanga.
• Ubudwarha: Ukuphakama nobunzima bomntwana buphantsi kakhulu kunesiqhelo.
• I-Progressive dementia: Ngokuhamba kwexesha, izinto ezifana nenkumbulo kunye nokukwazi ukufunda zinokwehla kancinci kancinci.

Ngaba kukho iintlobo ezahlukeneyo zeCockayne Syndrome?

Ewe, kukho iintlobo ezintathu eziphambili zale meko, nganye ineempawu zayo ezahlukeneyo kunye nobunzima bayo.

1. Uhlobo 1 (oluqhelekileyo): Olu lolona hlobo luqhelekileyo. Iimpawu ziqala ukubonakala emva kokuba umntwana eneminyaka emalunga nonyaka ubudala. Ezi mpawu ziyanda kancinci kancinci ngokuhamba kwexesha.

2. Uhlobo 2 (lokuzalwa): Olu lolona hlobo lunzima kakhulu. Iimpawu zibonakala xa bezalwa. Aba bantwana bakhula kancinci kakhulu.

3. Uhlobo 3: Oku kunqabile kakhulu. Iimpawu azikho nzima kangako. Kwakhona, ezi mpawu ziyavela kamva ebomini.

Ixhaphake kangakanani le meko?

I-Cockayne Syndrome yimeko engaqhelekanga kakhulu. Kubikwa ukuba le meko yenzeka kwiintsana ezimbini ukuya kwezintathu kuphela kwizigidi ezisandul’ ukuzalwa kumazwe afana neMelika neYurophu. Ezi zigulana zinokufumaneka ngamanye amaxesha eSri Lanka.

Yintoni ebangela iCockayne Syndrome?

Oku kuyinkimbinkimbi kancinci, kodwa ndiza kukuchaza ngokulula. Iiseli zomzimba wethu ziqulethe into ebizwa ngokuba yi-'DNA'. Kufana nencwadi equlethe lonke ulwazi olufunekayo emzimbeni wethu ukuze usebenze. Le 'DNA' inokonakala ngezizathu ezahlukeneyo. Umzekelo:

• Ukukhanya kwemitha
• Iikhemikhali ezinobungozi
• Ukukhanya kwe-ultraviolet okuvela elangeni
• Iimolekyuli ezingazinzanga ezibumbeka emizimbeni yethu (ii-free radicals)

Ngokwesiqhelo, emzimbeni womntu ophilileyo, xa le "DNA" yonakele, kukho indlela ekhethekileyo yokuyilungisa. Njengokuba into ethile endlwini yonakele, iyalungiswa.

Nangona kunjalo, kubantwana abaneCockayne Syndrome, le nkqubo yokulungisa i-'DNA` (`ingxaki yokulungisa i-DNA`) ayisebenzi kakuhle. Isizathu soku kukuguquka kwezakhi zofuzo `ERCC6` okanye `ERCC8`. Ezi zakhi zofuzo zinceda ekulungiseni i-'DNA`. Ngoko ke, xa ezi zakhi zofuzo zingasebenzi kakuhle, umonakalo kwi-'DNA` uyaqokelelana ngaphandle kokulungiswa. Emva koko iiseli azikwazi ukwenza umsebenzi wazo kakuhle. Eso sisizathu esiphambili sazo zonke ezi mpawu.

Ziziphi iimpawu zeCockayne Syndrome?

Le meko inokuchaphazela amalungu ahlukeneyo omzimba. Makhe sijonge ukuba zeziphi.

Iimpawu ezinxulumene namehlo:

Amehlo yenye yezitho zomzimba ezichaphazeleka kakhulu sesi sifo.

• Umbala ongaqhelekanga we-retina yeliso.
• Ukufiphala kwelensi yeliso, okufana ne-cataracts.
• Amehlo anqamlezileyo (strabismus).
• Ukungakwazi ukuvala ngokupheleleyo iinkophe.
• Ukubona izinto kude.
• Iinyembezi ezinciphileyo emehlweni.
• Ukuwohloka kwamehlo.
• Ukuncipha kancinci kancinci kwe-retina (ukuwohloka kwe-retina).
• Amehlo amancinci kunobukhulu obuqhelekileyo (i-microphthalmia).
• Amehlo atshonile (enophthalmos).

Iimpawu zobuso:

Ezinye iimpawu ezithile zinokubonakala nakwinkangeleko yobuso.

• Ukubola kwamazinyo kunokwenzeka kakhulu ngenxa yokungahambi kakuhle kwamazinyo.
• Ii-Earlobes ziba nkulu kunesiqhelo kwaye zitshintsha imo.
• Ubungakanani bentloko encinci (i-microcephaly).
• Ukuncitshiswa kwempumlo.
• Ukuvela kwemihlathi ephezulu nesezantsi (i-prognathism).

Iingxaki ezinxulumene nama-hormone:

• Ukufikisa okulibazisekileyo.
• Iingxaki zokuzala.
• Amasende angathobeliyo kumakhwenkwe.

Iimpawu ezinxulumene nenkqubo ye-nervous kunye nophuhliso:

Ezi zinto zichaphazela kakhulu imisebenzi yemihla ngemihla yomntwana.

• Ukuqina kwemisipha okungaqhelekanga (ukuxinezeleka).
• Ukuhla kancinci kancinci kwezakhono zengqondo.
• Ukulibaziseka kokukhula (umz., ukuhamba kancinci, ukuthetha).
• Ubunzima bokuthetha (i-aphasia).
• Ukungcangcazela kwamalungu omzimba (Ukungcangcazela okubalulekileyo).
• Iingxaki zokunyakaza kunye nokulungelelaniswa (ataxia).
• Ubunzima bokufunda.
• Iimeko zesifo sokuwa `(Ukuxhuzula)`.

Iimpawu ezinxulumene nolusu:

• Ukuncipha kokubila (i-anhidrosis).
• Ulusu lukhawuleza ukwenzakala kwaye lube namanxeba.
• Ukuziva ubanda xa uchukumisa ulusu.
• Ukutshintsha kombala oluhlaza okwesibhakabhaka kwesikhumba (i-cyanosis) (ingakumbi kwimilenze).

Ezinye iziphumo:

• Igazi elonyukayo.
• Amafutha ajikeleze intliziyo (atherosclerosis).
• Ukwandiswa kwesibindi.
• Ukuntshula kweenwele ngaphambi kwexesha.
• Ukuphakama nobunzima bungaphantsi kakhulu komlinganiselo oqhelekileyo (i-dwarfism).
• Ukuphazamiseka kokuva.
• Amalunga amakhulu.
• Ukuwohloka kwemisipha.
• I-Kyphosis.
• Iingalo nemilenze emide ngokungaqhelekanga xa kuthelekiswa nomzimba omfutshane.

Kubalulekile: Ayizizo zonke ezi mpawu eziza kwenzeka kumntwana ngamnye, kwaye ubukhali beempawu bunokwahluka kumntwana ngamnye.

Ifunyanwa njani iCockayne Syndrome?

Ugqirha uxilonga le meko ngokujonga iimpawu zomntwana kunye neziphumo zovavanyo ezithile. Uvavanyo oluphambili olwenziweyo zezi:

• Uvavanyo lwemfuza: Kuthathwa isampulu yegazi lomntwana ize ivavanywe ukuze kujongwe utshintsho kwimfuza i-ERCC6 okanye i-ERCC8.
• I-biopsy yolusu: Iqhekeza elincinci lesikhumba liyathathwa lize livavanywe kwilebhu ukuze kuqinisekiswe ukuba umzimba unako na ukulungisa i-DNA. Abantu abane-Cockayne Syndrome banesantya esiphantsi kunesiqhelo sokulungiswa kwe-DNA.

Kukho enye into ebalulekileyo ekuxilongeni esi sifo. Oko kukuthi, kubalulekile ukubona ugqirha onamava onolwazi olupheleleyo ngesi sifo. Kuba kukho ezinye izifo ezineempawu ezifanayo (umz. `Hutchinson-Gilford progeria syndrome`, `Laron syndrome`, `Seckel syndrome`). Ngoko ke, ukuze kwenziwe uxilongo oluchanekileyo, kuyimfuneko ukukwazi ukwahlula oku kwizifo ezinjalo.

Ziziphi iindlela zonyango lweCockayne Syndrome?

Ngelishwa, akukho nyango lweCockayne Syndrome. Nangona kunjalo, oko akuthethi ukuba akukho nto sinokuyenza. Injongo ephambili yonyango kukuthintela nokunyanga iingxaki ezibangelwa sesi sifo. Oku kufuna inkxaso yeqela loogqirha eliquka iingcali ezahlukeneyo.

Makhe sijonge ezinye iindlela zonyango:

Ukhathalelo lwamazinyo:

• Ukuhlolwa rhoqo kwamazinyo kuyimfuneko ukuthintela nokunyanga ukubola kwamazinyo.

Ukhathalelo lwamehlo:

• Iingxaki ze-cataracts zisenokufuna utyando.
• Kwamehlo axutyiweyo, iimaski zamehlo zingasetyenziselwa ukuqinisa izihlunu zamehlo ezibuthathaka.
• Iiglasi zokubona izinto ezikufutshane.
• Iiglasi zelanga zokukhusela amehlo akho ekukhanyeni okuqaqambileyo.

Inkxaso yokubonelela ngesondlo:

• Abanye abantwana banokuba nobunzima bokuginya ukutya. Kwiimeko ezinjalo, ukondla kunokufuneka kunikwe ngetyhubhu efakwe ngempumlo iye esiswini (ityhubhu ye-nasogastric) okanye ityhubhu efakwe ngqo esiswini ngesikhumba (i-percutaneous endoscopic gastrostomy - PEG).

Unyango lokuthetha, unyango lomzimba, kunye nonyango lomsebenzi:

• Izixhobo ezinceda ukugcina indawo yomzimba yendalo (umz., i-corset).
• Unyango lomzimba kunye nonyango lomsebenzi ukujongana nemingeni efana nobunzima bokuhamba.
• Unyango lonyango lokuthetha ukuze kwandiswe ubuchule bokuthetha nokuginya.

Ezinye iindlela zonyango:

• Iinkqubo zemfundo ekhethekileyo zokulibaziseka kophuhliso.
• Amayeza okanye ukutya okukhethekileyo okulawula ukugcinwa kwamafutha entliziyweni.
• Izixhobo zokuncedisa ukuva kubantu abanengxaki yokuva.
• Amayeza okulawula ukuqina kwemisipha (ukuqaqamba), ukungcangcazela, uxinzelelo lwegazi oluphezulu, kunye nokuxhuzula.
• Ukuzikhusela elangeni kubaluleke kakhulu. Oko kuthetha ukunciphisa umngcipheko wokukhanya elangeni, ukunxiba iminqwazi, kunye nokunxiba impahla enemikhono emide.

Ngaba iCockayne Syndrome ingathintelwa?

Ngenxa yokuba esi sisifo esibangelwa lufuzo, akukho nto sinokuyenza ukusithintela. Ukuba umntwana uzalwa enale meko, iyamchaphazela ubomi bakhe bonke.

Nangona kunjalo, ukuba uceba ukuqala usapho okanye ulindele omnye umntwana, kwaye umntu kusapho lwakho ebeneCockayne Syndrome, kubaluleke kakhulu ukufumana ingcebiso yezakhi zofuzo kunye novavanyo lwezakhi zofuzo. Olu vavanyo lunokukuxelela ukuba wena neqabane lakho nine-ERCC6 okanye i-ERCC8 gene mutation. Ukuba kunjalo, ingcali yezakhi zofuzo inokukuchazela amathuba okuba nomntwana oneCockayne Syndrome.

Ithini ingqikelelo yabantwana abaneCockayne Syndrome?

I-Cockayne Syndrome yimeko echaphazela ixesha lokuphila. Ikamva lomntwana lixhomekeke kuhlobo lwesifo.

• Uhlobo 1: Umyinge wobomi uphakathi kweminyaka eli-10 ukuya kwengama-20.
• Uhlobo 2: Aba bantwana abadli ngokuphila emva kobuntwana.
• Uhlobo 3: Uninzi lwaba bantwana lunokuphila baze babe ngabantu abadala abaphakathi.

Kunjani ukuphila neCockayne Syndrome?

Ubomi bemihla ngemihla bomntwana buxhomekeke kuhlobo lweCockayne Syndrome anayo. Iinkonzo zenkxaso kubantwana abakhubazekileyo ngokwengqondo nangokwenkqubela zinokunceda ekwenzeni ubomi babo bube lula kancinci. Iinkonzo ezisekelwe ekhaya nasekuhlaleni ziyafumaneka ukunceda ngemisebenzi yemihla ngemihla. Ungafumana nemisebenzi ekhethekileyo yoluntu.

Abanye abantwana baya esikolweni de amandla abo engqondo anciphe. Izicwangciso zemfundo zomntu ngamnye (ii-IEP) kunye nabancedisi bootitshala ziyabanceda ukuba bafunde kunye nabanye abantwana. Nangona kunjalo, abantwana abaneentlobo ezinzima zesifo basenokungazuzi kangako ngokuya esikolweni. Endaweni yoko, imisebenzi yabo yemihla ngemihla inokugxila kunyango lwezonyango kunye nonyango olubanceda bahlale bekhululekile.

Kubaluleke kakhulu: Abantu abaneCockayne Syndrome banokuba neempendulo ezingaqhelekanga kwamanye amayeza.Ngokukodwa, i-metronidazole, i-antibiotic esetyenziselwa ukunyanga izifo, kufuneka ithintelwe. Eli yeza linokubangela ukungasebenzi kwesibindi kunye nokufa kubantu abaneCockayne Syndrome. Ngoko ke, ngaphambi kokuba unike naluphi na unyango, yazisa ugqirha ngokucacileyo ngemeko yomntwana.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Cockayne Syndrome yimeko engaqhelekanga, ezuzwe njengelifa ebangelwa kukuguquka kwezakhi zofuzo i-ERCC6 okanye i-ERCC8. Ingachaphazela amehlo omntwana, ubuchule bokucinga, ulusu, kunye nenkangeleko. Nangona ixesha lokuphila laba bantwana lifutshane kunomndilili, unyango olwahlukeneyo kunye neenkonzo zenkxaso zinokuphucula intuthuzelo yabo kunye nomgangatho wobomi.

Ukuba ukrokrela ukuba umntwana wakho unale mpawu, kungcono ungoyiki, kodwa qhagamshelana nogqirha ofanelekileyo ngokukhawuleza. Ukuxilongwa ngokuchanekileyo kunye nonyango lwangethuba kunokubonelela ngokukhululeka okukhulu kumntwana wakho. Khumbula, awuwedwa, kwaye kukho oogqirha nabanye abaninzi abanokukunceda kolu hambo.

Isifo se - cocaine, izifo zemfuza, ukulungiswa kwe-DNA, ukwaluphala ngaphambi kwexesha, ukulibaziseka kokukhula, ukuva ukukhanya kwelanga, izifo ezingaqhelekanga