Ingabe ingane yakho ibonakala iguga ngokushesha kakhulu? Ake sixoxe ngeProgeria!

O, ngezinye izikhathi kuyadabukisa ukubona izingane zethu ezincane zigula, akunjalo? Ikakhulukazi, uma ingane ibukeka indala kakhulu kunobudala bayo, abazali bazizwa kanjani uma beyibona? Namuhla sizokhuluma ngesifo esingavamile kakhulu, kodwa esibaluleke kakhulu okufanele sazi ngaso. Lokhu kubizwa ngokuthi 'i-Progeria'. Empeleni lesi yisifo sofuzo esenza ingane iguge ngokushesha kunobudala bayo.

Kuyini i-'Progeria'? Ake sikuqonde kalula, akunjalo?

Kalula nje, i-Progeria iyisifo esingavamile esibangelwa izakhi zofuzo. Okwenzekayo kulokhu ukuthi ingane iguga ngokushesha kakhulu. Cabanga nje, uma utshala isitshalo esincane, sikhula kancane kancane. Kodwa izingane ezinalesi sifo zikhula ngokushesha futhi zibukeke zikhulile.

Lapho bezalwa, laba bantwana bavame ukuba nempilo enhle futhi njengabanye abantwana. Kodwa phakathi nonyaka wokuqala noma emibili yokuphila, baqala ukubonisa izimpawu zokuguga ngaphambi kwesikhathi. Izinga labo lokukhula liyehla, futhi isisindo sabo asikhuphuki njengoba bekulindelekile. Kodwa-ke, laba bantwana ngokuvamile abanakho ukuntuleka kokuhlakanipha. Kumelwe futhi sikukhumbule lokho.

Nazi ezinye zezinguquko zomzimba ezibangelwa yilesi simo:

• Ukulahlekelwa izinwele (ubumpandla)
• Amehlo avelele
• Isikhumba esigugile, esishwabene
• Impumulo encane, ecijile
• Ubuso obuncane kakhulu uma buqhathaniswa nobukhulu bekhanda
• Ukulahlekelwa ungqimba lwamafutha ngaphansi kwesikhumba

Igama elithi "Progeria" livela egameni lesiGreki elithi "geras", elisho "ukuguga". Uhlobo oluyinhloko lwalesi sifo lubizwa ngokuthi i-Hutchinson-Gilford Progeria Syndrome (HGPS). Saqala ukuchazwa ngasekupheleni kwawo-1800 ngodokotela ababili, uDkt. Jonathan Hutchinson noDkt. Hastings Gilford.

Ngokudabukisayo, i-Progeria ihlala iyisifo esibulalayo. Isilinganiso seminyaka yokufa kwalaba bantwana sicishe sibe yiminyaka eyi-14.5. Kodwa-ke, abanye abantu abasha abane-Progeria sebephile baze bafike eminyakeni yabo yama-20. Kutholakale ukuthi umuthi obizwa ngokuthi i-Lonafarnib unciphisa ukuqhubeka kwalesi sifo.

Ukufa okuningi kubangelwa izinkinga ezibangelwa yi-atherosclerosis enzima . Lesi yisifo senhliziyo esifanayo esivame ukuhlasela izigidi zabantu abadala. Kodwa sithinta laba bantwana besebancane kakhulu. I-atherosclerosis yisimo lapho ama-fatty deposits (i-plaque) akheka khona ngaphakathi kwezindonga zemithambo yegazi (imithambo yegazi), okwenza ingaguquguquki futhi ibe nzima. Lokhu kungaholela ezimweni ezifana nokuhlaselwa yinhliziyo noma ukushaywa yisifo sohlangothi.

Ubani othinteka kakhulu yiProgeria?

I-Progeria yisimo esingavamile sofuzo esingathinta noma ubani. Ngokuvamile, sibangelwa ukuguquka kwezakhi zofuzo okwenziwa kabusha. Lokhu kusho ukuthi akekho emndenini oke waba nalesi sifo ngaphambili .

Ivame kangakanani i-Progeria?

Lokhu akuvamile kakhulu. Kuzalwa umuntu oyedwa kuphela kwabayizigidi ezine emhlabeni wonke othinteka yilesi simo. Kulinganiselwa ukuthi okwamanje kunezingane ezingaba ngu-400 kanye nentsha ene-Progeria emhlabeni jikelele.

Ziyini izimpawu ze-Progeria?

Izimpawu ze-Progeria zifana ncamashi nalezo abantu ababhekana nazo njengoba bekhula ngokujwayelekile. Kodwa-ke, zivela besebancane kakhulu. Eminyakeni emibili yokuqala yokuphila, izingane ezine-Progeria ziqala ukubonisa lezi zimpawu zokuguga okusheshayo:

• Ukukhula okubambezelekile/ubude obufushane.
• Ukushwabana kwesikhumba.
• Ukulahlekelwa izinwele (ubumpandla).
• Ukuqina kwamalunga kanye nobunzima bokunyakaza.
• Isikhumba esiqinile, esiqinile, esifana nesimo esibizwa ngokuthi 'iScleroderma'.
• Ukuncipha kwamafutha emzimbeni.

Ukukhubazeka kwe-craniofacial kungafaka:

• Indawo ethambile ngaphambili kwekhanda (i-fontanelle) ivulekile kakhulu.
• Ubuso obuncane uma buqhathaniswa nobukhulu bekhanda (i-macrocephaly - lapho ikhanda likhulu kodwa ubuso buncane).
• Impumulo ecijile.
• Ukuphuza amazinyo.
• Umhlathi omncane (ongakhuli kahle) (`micrognathia`).

Njengoba lesi sifo siqhubeka, izimpawu ezingacacile kangako njengalezi zingase zivele:

• Ukuhlukana kwenqulu.
• Ama-cataract.
• Isifo samathambo.
• Ukuqongelela kwama-plaque emithanjeni yegazi.

Yini ebangela i-Progeria?

Imbangela eyinhloko ye-Progeria ukuguquka kwezakhi zofuzo ku-gene ebizwa ngokuthi i-LMNA. Le gene ye-LMNA inesibopho sokwenza iphrotheni ebizwa ngokuthi i-lamin A, esiza ekubambeni i-nucleus yawo wonke amaseli emzimbeni wethu ndawonye. Cabanga ngayo njengezindonga zendlu yeseli.

Uguquko oluncane kakhulu ku-gene ye-`LMNA` lubangela uhlobo olungavamile lweprotheyini ye-`lamin A`, ebizwa ngokuthi i-`progerin`. Le `progerin` ithatha indawo ye-`lamin A` futhi iphazamise ama-nuclei amangqamuzana ethu, iwalimaza kancane kancane. Lokhu kubangela ukuthi wonke amaseli emzimbeni wethu afe ngokushesha. Yileso imbangela yale nqubo yokuguga ngaphambi kwesikhathi.

Ingabe iProgeria izuzwa njengefa?

I-Progeria cishe ibangelwa ukuguquka okusha, okuzenzakalelayo (`de novo` mutation) ku-gene ye-`LMNA`. Lokhu kusho ukuthi ayizuzwa njengefa kubazali. Ngokuvamile, lokhu kuguquka kwenzeka ngaphambi kokukhulelwa, esidoda.

Ingabe i-Progeria iyabusa noma iyaguquguquka?

I-Progeria iyisifo esiyinhloko se-autosomal, okusho ukuthi noma ngabe iseli ngalinye linekhophi eyodwa yesakhi sofuzo esiguquliwe, kwanele ukubangela lesi simo.

I-Progeria ihlolwa kanjani?

Udokotela wengane yakho angase akwazi ukuxilonga lesi simo ngokusekelwe ekubukekeni komzimba kwengane yakho. Uzohlola ingane yakho futhi akubuze ngezimpawu zakho. Uma kusolwa ukuthi i-Progeria inesifo, ukuhlolwa kofuzo kungenziwa ukuqinisekisa ukuxilongwa. Lokhu kuhilela ukuthatha isampula yegazi enganeni yakho.

Yiziphi izindlela zokwelapha i-Progeria?

Okwamanje akukho ukwelashwa kwe-Progeria. Kodwa-ke, abacwaningi bafunda imithi eminingana engayilapha le nkinga. Umuthi osetshenziselwa ukwelapha i-Progeria ubizwa ngokuthi i-Lonafarnib (Zokinvy™). Empeleni umuthi oklanyelwe ukwelapha umdlavuza. Kodwa-ke, i-Lonafarnib ibonise ukuthuthuka ezicini eziningi ze-Progeria. Isikhathi sokuphila esimaphakathi sezingane ezinesifo sikhuphuke cishe ngeminyaka emibili nesigamu. Ingane ngayinye ethatha umuthi ibonise ukuthuthuka kwesinye noma ngaphezulu kwezici ezine ezilandelayo:

• Ukuguquguquka okukhulu kwemithambo yegazi.
• Ukuthuthukiswa kwesakhiwo samathambo.
• Ukwanda kwesisindo.
• Ikhono lokuzwa elithuthukisiwe.

Ukwelashwa ngokomzimba kungasiza ingane yakho ukuthi igcine ukunyakaza okuhle, ibhalansi, kanye nesimo sayo. Kungasiza futhi ekunciphiseni ubuhlungu ezinqeni nasemilenzeni. Ukwelashwa ngokomsebenzi kungasiza ingane yakho ukuthi ithuthukise ukudla, inhlanzeko yomuntu siqu, kanye nokubhala ngesandla.

Into ebaluleke kakhulu ukunikeza ingane yakho ukunakekelwa ekudingayo ukuze iphile impilo enhle nekhululekile ngangokunokwenzeka.

Udokotela wengane yakho uzoqapha futhi aphathe lesi simo ngezinto ezifana nalezi:

• Ukuhlolwa kwesifo senhliziyo: Udokotela wengane yakho uzohlola umfutho wegazi wengane yakho futhi enze izivivinyo ezifana ne-echocardiograms njalo. Imithi ye-aspirin ephansi kanye ne-statin ingasiza ekunciphiseni ingozi yesifo senhliziyo.
• Ukuhlolwa kwezithombe (isb., i-Magnetic Resonance Imaging - i-MRI): Udokotela usebenzisa ukuhlolwa kwezithombe njenge-MRI ukuze abheke isifo sohlangothi, noma ukuze abheke ikhanda elibuhlungu noma ukuxhuzula okuvamile.
• Ukuhlolwa kwamehlo okuvamile: Ingane yakho ingase ibe nezinkinga zamehlo njengokungaboni kahle noma amehlo omile. Amehlo omile angase avele ngoba amehlo awavaleki ngokuphelele. Njengoba lesi sifo siqhubeka, ingane ingase ibe nama-cataract. Ama-eyelashes namashiya angase abe mancane noma anyamalale. Lokhu kwenza kube lula ukuthi ukungcola kanye nemfucumfucu kungene emehlweni. Futhi, ingane ingase ibe nokuzwela okukhulu ekukhanyeni. Ngakho-ke, kungadingeka ukuthi ugqoke izibuko zelanga ngezinye izikhathi.
• Ukuhlolwa kokuzwa:Ingane ingase ibe nokulahlekelwa ukuzwa. Lokhu kungalungiswa ngezinsiza zokuzwa.
• Ukuhlolwa kwamazinyo njalo: Ingane yakho inamathuba amaningi okuthola izinkinga zamazinyo ezifana nokugoba, ukuminyana, ukuphuphuma kwamazinyo okuphuzile, kanye nokuphuma kwezinsini. Ukuvakashela udokotela wamazinyo njalo kungasiza ekuqapheni nasekuphatheni lezi zinkinga.
• Izinkinga zesikhumba: Udokotela uzobheka amabala amnyama noma amaqhubu esikhumbeni sengane. Bazobheka nokulahlekelwa izinwele, ukulunywa, kanye nokuqina kwesikhumba (okunganciphisa ukunyakaza futhi kwenze kube nzima ukuphefumula noma ukugaya ukudla).
• Ukuqapha impilo yamathambo: Ingane ingase ibhekane nezinkinga eziningana ezihlobene nokukhula nokukhula kwamathambo. Ingase ibhekane nezinkinga zamalunga.

Ingane yakho idinga ukudla okwanele ukuze ikhule. Ingase idinge ukudla okungeziwe (njengepayipi lokuncelisa). Ukugcina ingane yakho inamanzi anele (inikwe amanzi) kungasiza ekunciphiseni ingozi yezinkinga zezinzwa ezingazelelwe. Khuluma nodokotela wengane yakho ngezindlela ezinempilo zokuthola amakhalori anele kanye nokudla okunempilo.

Ingabe i-Progeria ingavinjelwa?

I-Progeria yisimo esingavamile kakhulu sofuzo esingenakuvinjelwa. Sivame ukubangelwa ukuguquka kwezakhi zofuzo okusha. Lokhu kusho ukuthi kwenzeka ngokungahleliwe. Njengoba lesi simo singavamile ukwenzeka emindenini, kunzima ukubikezela. Kodwa-ke, uma unengane eyodwa ene-Progeria, amathuba okuba enye ingane ibe nalesi sifo ayanda kancane. Ungase uthande ukucabanga ngokuhlolwa kwezakhi zofuzo ukuze uthole ingozi yakho.

Ingakanani iminyaka yokuphila komuntu one-Progeria?

I-Progeria yisimo esibulalayo esibangela ukufa ngaphambi kwesikhathi. Isilinganiso sokuphila komuntu one-Progeria siyiminyaka eyi-14.5. Kodwa-ke, ezinye izingane ziyafa zineminyaka eyi-6 ubudala. Futhi, abanye abantu abasha abane-Progeria baphila baze bafike eminyakeni yabo yama-20.

Ukufa kuvame ukubangelwa izinkinga zesimo esithi `Atherosclerosis`. Abantu abangaphezu kuka-80% abafayo babangelwa `ukwehluleka kwenhliziyo` kanye/noma `ukuhlaselwa yinhliziyo`. Ukwelashwa ngomuthi `lonafarnib` kubonise imiphumela emihle. Kuye kwandisa isikhathi sokuphila kwabantu abane-`Progeria` cishe iminyaka emibili nengxenye.

Uma ingane yami ine-Progeria, ingabe nezinye izingane zami nazo ziyayithola?

I-Progeria ibangelwa ukuguquka kwezakhi zofuzo okungavamile kakhulu, futhi ngokuvamile ayiveli emindenini. Amathuba okuthola umntwana one-Progeria angaba ngu-1 kwabayizigidi ezine. Kodwa-ke, uma unengane eyodwa ene-Progeria, akunakwenzeka ukuthi enye ingane ibe nayo.Amathuba aphezulu, phakathi kuka-2% no-3%. Lokhu kungenxa yesimo esibizwa ngokuthi i-mosaicism. Ku-mosaicism, iphesenti elincane lamaseli kumzali oyedwa linokuguqulwa kwezakhi zofuzo ze-Progeria, kodwa lowo mzali akanaso lesi sifo. Uma ingane yakho ine-Progeria, ungase ufune ukucabangela ukuhlolwa kwezakhi zofuzo ukuze uthole ukuthi enye ingane isengozini yokuthola lesi sifo.

Uma ingane yami ine-Progeria, ngingayinakekela kanjani?

Uma ingane yakho ine-Progeria, zama ukudala indawo yasekhaya evamile ngangokunokwenzeka. Faka ingane yakho emisebenzini eminingi ngangokunokwenzeka. Kodwa ungavumeli ezinye izingane emndenini wakho zizwe sengathi azinakwa.

Uma ukhuluma nomndeni wonke ngeqiniso lokuthi ingane yakho ene-Progeria izophila iminyaka ethile kuphela, khuluma iqiniso kodwa uvumelane nobudala bayo. Izikhathi zokwelulekwa zingaba usizo ezimweni eziningi.

Futhi, khuluma nengane yakho ngendlela abanye abantu abazomangala ngayo futhi bayibheke ngendlela ehlukile. Khuluma nengane yakho ngendlela okufanele isabele ngayo uma othile eyibheka ngendlela exakile noma ehlebela.

Ingabe ingane ene-Progeria ingaya esikoleni?

Izingane eziningi ezine-Progeria ziyaya esikoleni. Zingase zidinge indawo yokuhlala ukuze zizisize zihlanganyele ngokugcwele, zizizwe zikhululekile, futhi ziphephile. Kufanele uhlangane njalo nabaphathi besikole sengane yakho, abahlengikazi, abelaphi, kanye nothisha. Lokhu kuzosiza wonke umuntu ukuthi asebenzisane ukuze ahlangabezane nezidingo zengane yakho. Lokhu kuhlanganisa ukwenza uhlelo nokwabelana ngalo nawo wonke umuntu uma ingane yakho idinga ukunakekelwa okuphuthumayo esikoleni (isibonelo, uma ngokuzumayo iba nenkinga yokuphefumula noma ubuhlungu besifuba).

Kuyini 'i-Neonatal progeria'?

Ngaphezu kwe-Hutchinson-Gilford progeria syndrome, kunezinye izimo eziningana ezibangela ukuguga ngaphambi kwesikhathi. Lezi zibizwa ngokuthi ama-progeroid syndrome. I-Neonatal progeria, eyaziwa nangokuthi i-neonatal progeroid syndrome, ingenye yazo. Eyaziwa nangokuthi i-Wiedemann-Rautenstrauch syndrome, lesi simo sibangela ukukhubazeka kokukhula kanye nokushwabana kwesikhumba. Kodwa-ke, i-neonatal progeroid syndrome izuzwa ngendlela ye-autosomal recessive. Lokhu kusho ukuthi lesi sifo senzeka kuphela uma womabili amakhophi esakhi sofuzo esiguquliwe ezuzwa njengefa kuseli ngalinye.

Ukuthola ukuthi ingane yakho ine-Progeria kungaba yinto ekhungathekisayo futhi edidayo. Udokotela wengane yakho angakusiza wena nomndeni wakho ukuthi nibhekane nokuxilongwa. Angakusiza futhi ukuthi uqonde izinketho zokwelapha ezinganciphisa ukuqhubeka kwalesi sifo. Abazali abaningi bezingane ezinezimo zofuzo ezifana ne-Progeria bathola amaqembu okusekelana ewusizo kakhulu. Ukubuza imibuzo, ukufunda okuhlangenwe nakho kweminye imindeni kungaba induduzo, futhi kungakusiza uzizwe sengathi awuwedwa.

Izinto ezibaluleke kakhulu okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Progeria iyisimo esingavamile kakhulu, kodwa esisongela ukuphila okubalulekile ukuqaphela.

• Lesi yisifo esibangelwa izakhi zofuzo: sivame ukubangelwa ukuguquka kwezakhi zofuzo okusha.
• Ukuguga okusheshayo kuyisibonakaliso esiyinhloko: Izinto ezifana nokubukeka kwengane, isikhumba, namathambo ziguga ngokushesha.
• Ubuhlakani abuthinteki: Izinga lobuhlakani lalaba bantwana lijwayelekile.
• Kukhona ukwelashwa, kodwa akukho ikhambi: Imithi efana neLonafarnib inganciphisa ukuqhubeka kwalesi sifo futhi yandise isikhathi sokuphila. Kodwa ikhambi eliphelele alikatholakali.
• Uthando nokusekela ingane kubaluleke kakhulu: ukusiza ingane iphile impilo evamile, ukuyiqonda, kanye nokuhlinzeka ngokwelashwa okudingekayo kubaluleke kakhulu.
• Awuwedwa: ​​khuluma neminye imindeni ebhekene nezimo ezifanayo, thola ukwesekwa, futhi ucele iseluleko kodokotela.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma unokungabaza, ungakhohlwa ukubonana nodokotela.

I- Progeria, izifo zofuzo, ukuguga ngaphambi kwesikhathi, i-LMNA gene, i-lonafarnib, impilo yabantwana, izifo ezingavamile