Ingabe ingane yakho ibonakala iguga ngokushesha kakhulu? Ake sifunde nge-Cockayne Syndrome!

Ngezinye izikhathi sizizwa sesaba kakhulu uma sibona izinguquko ezithile ekukhuleni kwezingane zethu, akunjalo? Ikakhulukazi uma ingane iziphatha ngendlela ehlukile kweyabanye abantwana, noma uma sibona izinguquko zomzimba. Namuhla sizokhuluma ngesimo sezokwelapha esingavamile kodwa esibaluleke kakhulu okufanele sisiqaphele. Leso yi-Cockayne Syndrome. Ungase ukhathazeke uma uzwa leli gama, kodwa ake sixoxe ngalo kalula nangokucacile.

Iyini ngempela i-Cockayne Syndrome?

Kalula nje, i-Cockayne Syndrome iyisimo esingavamile kakhulu, esizuzwe njengefa. Kulokhu, amangqamuzana emzimbeni wengane awakhuli ngendlela evamile, futhi abonisa izimpawu zokuguga ngaphambi kwesikhathi (progeria) . Cabanga nje, ngisho naseyingane encane, ukubukeka kwayo kanye neminye imisebenzi yomzimba iqala ukufana neyomuntu omdala.

Kanye nalesi simo, ezinye izimpawu ezibalulekile zingabonakala:

• Ukuzwela ukukhanya: Uma sikhuluma iqiniso, isikhumba sisha ngokushesha uma sichayeka elangeni, futhi amehlo nawo azizwa engakhululekile.
• Ubu-dwarfism: Ukuphakama nesisindo sengane kuncane kakhulu kunokuvamile.
• I-dementia eqhubekayo: Ngokuhamba kwesikhathi, izinto ezifana nenkumbulo nekhono lokufunda zingase zinciphe kancane kancane.

Ingabe kunezinhlobo ezahlukene ze-Cockayne Syndrome?

Yebo, kunezinhlobo ezintathu eziyinhloko zalesi simo, ngasinye sinezimpawu zaso ezihlukile kanye nobunzima baso.

1. Uhlobo 1 (olujwayelekile): Lolu uhlobo oluvame kakhulu. Izimpawu ziqala ukuvela ngemva kokuba ingane isinonyaka owodwa ubudala. Lezi zimpawu ziyanda kancane kancane ngokuhamba kwesikhathi.

2. Uhlobo 2 (lokuzalwa): Lolu uhlobo olubi kakhulu. Izimpawu ziyabonakala lapho kuzalwa. Lezi zingane zikhula kancane kakhulu.

3. Uhlobo 3: Lokhu akuvamile kakhulu. Izimpawu azizimbi kangako. Futhi, lezi zimpawu ziyavela kamuva ekuphileni.

Sivame kangakanani lesi simo?

I-Cockayne Syndrome iyisimo esingavamile kakhulu. Kubikwa ukuthi lesi simo senzeka ezinganeni ezimbili kuya kwezintathu kuphela kweziyisigidi ezisanda kuzalwa emazweni anjengeMelika neYurophu. Iziguli ezinjalo zingatholakala ngezikhathi ezithile eSri Lanka.

Yini ebangela i-Cockayne Syndrome?

Lokhu kuyinkimbinkimbi kancane, kodwa ngizokuchaza kalula. Amaseli omzimba wethu aqukethe into ebizwa ngokuthi 'i-DNA'. Kufana nencwadi equkethe lonke ulwazi umzimba wethu oludingayo ukuze usebenze. Le 'DNA' ingonakala ngezizathu ezahlukahlukene. Isibonelo:

• Imisebe
• Amakhemikhali anobuthi
• Ukukhanya kwe-Ultraviolet okuvela elangeni
• Ama-molecule angazinzile akheka emizimbeni yethu (ama-free radicals)

Ngokuvamile, emzimbeni womuntu ophilile, uma le "DNA" yonakele, kuba nendlela ekhethekile yokuyilungisa. Njengoba nje uma into ethile endlini iphukile, iyalungiswa.

Kodwa-ke, ezinganeni ezine-Cockayne Syndrome, le nqubo yokulungisa i-'DNA` (`i-DNA repair disorder`) ayisebenzi kahle. Isizathu salokhu ukuguqulwa kwezakhi zofuzo `ERCC6` noma `ERCC8`. Lezi zakhi zofuzo ziyasiza ekulungiseni i-'DNA`. Ngakho-ke, uma lezi zakhi zofuzo zingasebenzi kahle, umonakalo we-'DNA` uyanqwabelana ngaphandle kokulungiswa. Khona-ke amaseli awakwazi ukwenza umsebenzi wawo kahle. Leso yisona sizathu esiyinhloko sazo zonke lezi zimpawu.

Ziyini izimpawu ze-Cockayne Syndrome?

Lesi simo singathinta izingxenye ezahlukene zomzimba. Ake sibheke ukuthi ziyini.

Izimpawu ezihlobene namehlo:

Amehlo angenye yezitho zomzimba ezithinteka kakhulu yilesi sifo.

• Umbala ongajwayelekile we-retina yeso.
• Ukufiphala kwelensi yeso, okufana ne-cataracts.
• Amehlo aphambene (strabismus).
• Ukungakwazi ukuvala amehlo ngokuphelele.
• Ukubuka izinto kude.
• Ukuncipha kwezinyembezi emehlweni.
• Ukuwohloka kwamehlo.
• Ukuncipha kancane kancane kwe-retina (ukuwohloka kwe-retina).
• Amehlo amancane kunosayizi ojwayelekile (i-microphthalmia).
• Amehlo atshonile (i-enophthalmos).

Izici zobuso:

Ezinye izici ezithile zingabonakala nasekubukekeni kobuso.

• Ukubola kwamazinyo kungenzeka kakhulu ngenxa yokungalungi kahle kwamazinyo.
• Ama-Earlobes aba makhulu kunokuvamile futhi ashintsha isimo.
• Usayizi wekhanda elincane (i-microcephaly).
• Ukuncipha kwekhala.
• Ukuvela kwemihlathi engenhla nengezansi (ukubikezela).

Izinkinga ezihlobene nama-hormone:

• Ukuthomba okulibazisekile.
• Izinkinga zokuzala.
• Amasende angakafiki kubafana.

Izici ezihlobene nohlelo lwezinzwa kanye nentuthuko:

Lokhu kuthinta kakhulu imisebenzi yansuku zonke yengane.

• Ukuqina kwemisipha okungavamile (ukuqaqamba).
• Ukwehla kancane kancane kwamakhono obuhlakani.
• Ukulibaziseka kokukhula (isb., ukuhamba kancane, ukukhuluma).
• Ubunzima bokukhuluma (i-aphasia).
• Ukuthuthumela kwamalungu (Ukuthuthumela okubalulekile).
• Izinkinga ngokunyakaza kanye nokuxhumana (i-ataxia).
• Ubunzima bokufunda.
• Izimo zesifo sokuwa `(Ukuquleka)`.

Izimpawu ezihlobene nesikhumba:

• Ukwehla kokujuluka (i-anhidrosis).
• Isikhumba silimala kalula futhi sibe nezibazi.
• Ukuzizwa ubanda uma uthinta isikhumba.
• Ukushintsha kombala wesikhumba okuluhlaza okwesibhakabhaka (i-cyanosis) (ikakhulukazi ezithweni).

Eminye imiphumela:

• Umfutho wegazi ophezulu.
• Amafutha ahlala ezungeze inhliziyo (i-atherosclerosis).
• Ukwanda kwesibindi.
• Ukuphuka kwezinwele ngaphambi kwesikhathi.
• Ukuphakama nesisindo kungaphansi kakhulu kwesilinganiso esijwayelekile (i-dwarfism).
• Ukukhubazeka kokuzwa.
• Amalunga amakhulu.
• Ukuwohloka kwemisipha.
• I-Kyphosis.
• Izingalo nemilenze emide ngendlela engavamile uma kuqhathaniswa nomzimba omfushane.

Okubalulekile: Akuzona zonke lezi zimpawu ezizovela kuyo yonke ingane, futhi ubukhulu bezimpawu bungahluka kuye ngengane.

Itholakala kanjani i-Cockayne Syndrome?

Udokotela uxilonga lesi simo ngokubheka izici zomtholampilo zengane kanye nemiphumela ethile yokuhlolwa. Ukuhlolwa okuyinhloko okwenziwayo yile:

• Ukuhlolwa kwezakhi zofuzo: Kuthathwa isampula yegazi enganeni bese ihlolwa ukuthi ishintshe izakhi zofuzo ku-ERCC6 noma ku-ERCC8.
• I-biopsy yesikhumba: Kuthathwa ingxenye encane yezicubu zesikhumba bese ihlolwa elabhorethri ukuze kutholakale ikhono lomzimba lokulungisa i-DNA. Abantu abane-Cockayne Syndrome banezinga eliphansi kunelivamile lokulungiswa kwe-DNA.

Kukhona enye into ebalulekile ekuxilongweni kwalesi sifo. Okusho ukuthi, kubalulekile ukubona udokotela onolwazi onolwazi kahle ngalesi sifo. Ngoba kunezinye izifo ezinezimpawu ezifanayo (isib. `Hutchinson-Gilford progeria syndrome`, `Laron syndrome`, `Seckel syndrome`). Ngakho-ke, ukuze kwenziwe ukuxilongwa okunembile, kubalulekile ukukwazi ukuhlukanisa lokhu ezifweni ezinjalo.

Yiziphi izindlela zokwelapha i-Cockayne Syndrome?

Ngeshwa, ayikho ikhambi le-Cockayne Syndrome. Kodwa-ke, lokho akusho ukuthi akukho esingakwenza. Umgomo oyinhloko wokwelashwa ukuvimbela nokwelapha izinkinga ezibangelwa yilesi sifo. Lokhu kudinga ukwesekwa kwethimba lodokotela eliqukethe ochwepheshe abahlukahlukene.

Ake sibheke ezinye izindlela zokwelapha:

Ukunakekelwa kwamazinyo:

• Ukuhlolwa kwamazinyo njalo kuyadingeka ukuze kuvinjelwe futhi kwelashwe ukubola kwamazinyo.

Ukunakekelwa kwamehlo:

• Ama-cataract angadinga ukuhlinzwa.
• Kumehlo ahlanganisiwe, izifihla-buso zamehlo zingasetshenziswa ukuqinisa imisipha yamehlo ebuthakathaka.
• Izibuko zokubona eduze.
• Izibuko zelanga zokuvikela amehlo akho ekukhanyeni okukhulu.

Ukusekelwa kokuhlinzeka ngokudla okunempilo:

• Ezinye izingane zingase zibe nobunzima bokugwinya ukudla. Ezimweni ezinjalo, ukudla kungadingeka kunikezwe ngepayipi elifakwe ngekhala liye esiswini (ipayipi le-nasogastric) noma ipayipi elifakwe ngqo esiswini ngesikhumba (i-percutaneous endoscopic gastrostomy - PEG).

Ukwelashwa kokukhuluma, ukwelashwa ngokomzimba, kanye nokwelashwa ngokomsebenzi:

• Amadivayisi asiza ekugcineni isimo somzimba semvelo (isb., i-corset).
• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi ukuze kuxazululwe izinselele ezifana nobunzima bokuhamba.
• Ukwelashwa kokwelapha ngenkulumo ukuze kuthuthukiswe amakhono okukhuluma nokugwinya.

Ezinye izindlela zokwelapha:

• Izinhlelo zemfundo ekhethekile zokulibaziseka kwentuthuko.
• Imithi noma ukudla okukhethekile ukulawula ukugcinwa kwamafutha enhliziyweni.
• Izinsiza zokuzwa zokukhubazeka kokuzwa.
• Imithi yokulawula ukuqina kwemisipha (ukuqaqamba), ukuthuthumela, umfutho wegazi ophakeme, kanye nesifo sokuwa.
• Ukuvikelwa elangeni kubaluleke kakhulu. Lokho kusho ukunciphisa ukuchayeka elangeni, ukugqoka izigqoko, nokugqoka izingubo ezinemikhono emide.

Ingabe i-Cockayne Syndrome ingavinjelwa?

Ngenxa yokuthi lesi yisimo sofuzo, akukho esingakwenza ukusivimbela. Uma umntwana ezalwa nalesi simo, siyamthinta impilo yakhe yonke.

Kodwa-ke, uma uhlela ukuqala umndeni noma ulindele omunye umntwana, futhi othile emndenini wakho eke waba ne-Cockayne Syndrome, kubaluleke kakhulu ukuthola ukwelulekwa ngofuzo kanye nokuhlolwa ngofuzo. Lokhu kuhlolwa kungakutshela ukuthi wena nomlingani wakho ninayo yini i-ERCC6 noma i-ERCC8 gene mutation. Uma kunjalo, umeluleki wezakhi zofuzo angakuchazela amathuba okuba nomntwana one-Cockayne Syndrome.

Iyini i-prognosis kubantwana abane-Cockayne Syndrome?

I-Cockayne Syndrome yisimo esithinta isikhathi sokuphila. Ikusasa lengane lincike ohlotsheni lwesifo.

• Uhlobo 1: Isikhathi sokuphila esimaphakathi siphakathi kweminyaka eyi-10 nengama-20.
• Uhlobo 2: Lezi zingane ngokuvamile aziphili ngemva kobuntwana.
• Uhlobo 3: Iningi lalaba bantwana lingaphila baze babe ngabantu abadala abaphakathi nendawo.

Kunjani ukuphila ne-Cockayne Syndrome?

Impilo yansuku zonke yengane incike ohlotsheni lwe-Cockayne Syndrome enayo. Izinsizakalo zokusekela izingane ezinokukhubazeka kwengqondo nokukhula zingasiza ekwenzeni izimpilo zazo zibe lula kancane. Izinsizakalo ezisekhaya nezisekelwe emphakathini ziyatholakala ukusiza ngemisebenzi yansuku zonke. Ungase uthole nemisebenzi ekhethekile yomphakathi.

Ezinye izingane ziya esikoleni kuze kube yilapho amakhono azo okuqonda ehla. Izinhlelo zemfundo yomuntu ngamunye (i-IEP) kanye nabasizi bokufundisa ziyabasiza ukuthi bafunde kanye nezinye izingane. Kodwa-ke, izingane ezinezinhlobo ezimbi kakhulu zalesi sifo zingase zingazuzi kakhulu ngokuya esikoleni. Kunalokho, imisebenzi yazo yansuku zonke ingase igxile ekwelashweni kwezokwelapha kanye nokwelashwa okubasiza bahlale bekhululekile.

Kubaluleke kakhulu: Abantu abane-Cockayne Syndrome bangase babe nokusabela okungavamile kweminye imithi.Ikakhulukazi, i-metronidazole, i-antibiotic esetshenziselwa ukwelapha izifo, kufanele igwenywe. Lo muthi ungabangela ukwehluleka kwesibindi ngisho nokufa kubantu abane-Cockayne Syndrome. Ngakho-ke, ngaphambi kokunikeza noma yimuphi umuthi, yazisa udokotela ngokucacile ngesimo sengane.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Cockayne Syndrome iyisimo esingavamile, esizuzwe njengefa esibangelwa izinguquko ezakhiweni zofuzo i-ERCC6 noma i-ERCC8. Ingathinta amehlo engane, amakhono obuhlakani, isikhumba, kanye nokubukeka kwayo. Nakuba isikhathi sokuphila salezi zingane sifushane kunesilinganiso, izindlela zokwelapha ezahlukene kanye nezinsizakalo zokusekela zingakhulisa induduzo yazo kanye nekhwalithi yokuphila.

Uma usola ukuthi ingane yakho inalezi zimpawu, kungcono ungesabi, kodwa thintana nodokotela ofanelekayo ngokushesha okukhulu. Ukuxilongwa okufanele kanye nokwelashwa kwasekuqaleni kunganikeza ingane yakho impumuzo enkulu. Khumbula, awuwedwa, futhi kukhona odokotela nabanye abaningi abangakusiza kulolu hambo.

I- Cocaine syndrome, izifo zofuzo, ukulungiswa kwe-DNA, ukuguga ngaphambi kwesikhathi, ukubambezeleka kokukhula, ukuzwela ukukhanya kwelanga, izifo ezingavamile