Njengomama nobaba, sonke sibuka ingane yethu ikhula usuku nosuku ngentshiseko. Kodwa, cabanga... kuthiwani uma ingane ikhula ngesivinini esingenakucatshangwa, hhayi ngendlela evamile? Kunzima ngempela ukucabanga. Namuhla sikhuluma ngesifo esingavamile kakhulu, kodwa esibaluleke kakhulu okufanele siqashelwe. Lesi sibizwa ngokuthi i-Progeria.
Iyini ngempela i-Progeria?
Kalula nje, i-Progeria yisifo esingavamile kakhulu esibangela imizimba yezingane ukuba iguge ngokushesha. Ingane enalesi simo ibukeka njengengane enempilo lapho izalwa. Kodwa-ke, phakathi nonyaka wokuqala noma emibili yokuphila, iqala ukubonisa izimpawu zalokhu kuguga okusheshayo. Izinga lokukhula kwayo liyehla kakhulu, futhi ikhuluphala kancane kakhulu.
Kodwa okubaluleke kakhulu ukuthi, akukho ukuntuleka kokuhlakanipha kulaba bantwana. Bahlakaniphe kakhulu. Inkinga imayelana nezinguquko zomzimba ezenzeka ngenxa yale nqubo yokuguga esheshisiwe emzimbeni.
Igama elithi "progeria" livela egameni lesiGreki elithi "geras" elisho "ukuguga." Uhlobo oluyinhloko lwalesi sifo lubizwa ngokuthi i-Hutchinson-Gilford progeria syndrome (HGPS).
Lesi yisimo esidabukisayo kakhulu, ngoba alikho ikhambi le-Progeria. Isilinganiso sokuphila kwalaba bantwana singaba yiminyaka eyi-14.5. Kodwa-ke, abanye abantwana baphila baze bafike eminyakeni yabo engama-20. Imbangela enkulu yokufa kwalaba bantwana ukuhlaselwa yinhliziyo noma isifo sohlangothi . Isizathu salokhu ukuthi i-atherosclerosis , isifo esibangela ukuba izindonga zemithambo yegazi ziqine, ngokuvamile sikhula kubantu abadala, futhi sikhula sisebancane kakhulu kulaba bantwana.
Ubani othola lesi sifo? Sivame kangakanani?
I-Progeria yisimo sofuzo esingathinta noma ubani. Kodwa akuyona ifa . Okusho ukuthi, ayizuzwa kubazali. Ivame ukubangelwa ukuguquka kwezakhi zofuzo okusha. Okusho ukuthi, ushintsho olungahleliwe olwenzeka esidoda ngaphambi kokukhulelwa.
Lesi sifo asivamile kangangokuthi oyedwa kuphela ezinganeni eziyizigidi ezine ezizalwa emhlabeni wonke othinteka yilesi simo. Njengamanje, kunezingane ezingaba ngu-400 kanye nentsha ephila neProgeria emhlabeni jikelele.
Ziyini izimpawu ze-Progeria?
Izimpawu ze-Progeria zifana nezokuguga okuvamile, kodwa zivela esemncane kakhulu. Lezi zimpawu zingabonakala eminyakeni emibili yokuqala yokuphila. Ake sihlukanise lezi zimpawu.
| Uhlobo oluyisici | Izinto okufanele uzibone |
|---|---|
| Izimpawu ezivamile ezibonakala ezigabeni zokuqala | |
| Ukukhubazeka kokukhula | Ukuphakama kwengane kanye nokwanda kwesisindo kuphansi kakhulu. |
| Ukushwabana kwesikhumba | Isikhumba siyaxega futhi sibe nemibimbi, njengesomuntu omdala. |
| Ukulahlekelwa izinwele | Amashiya, izinkophe, nezinwele ziyawa, okuholela ekubeni nempandla. |
| Ukuqina kwamalunga | Ukuncipha kokuguquguquka kwamalunga ezithweni kanye nobunzima bokunyakaza. |
| Ukuqina kwesikhumba | Ukuqina nokuqina kwesikhumba (okufana ne-scleroderma). |
| Ukunciphisa amafutha emzimbeni | Ungqimba lwamafutha ngaphansi kwesikhumba luyalahleka. |
| Izinguquko ezibonakalayo ebusweni nasekhanda | |
| Ukukhulisa ikhanda | Ikhanda libonakala likhulu uma liqhathaniswa nobuso (i-macrocephaly). |
| Ubuso obuncane | Ubuso bubonakala buncane futhi buncane uma buqhathaniswa nobukhulu bekhanda. |
| Isimo sekhala | Impumulo incane futhi iqondile, njengomlomo wenyoni. |
| Ukunciphisa umhlathi | Ukukhula okunciphile komhlathi ongezansi (i-micrognathia). |
| Ukuhluma kwamazinyo okulibazisekile | Ukuphuza amazinyo nokuminyana kwamazinyo. |
| Izimpawu ezenzeka njengoba isifo siqhubeka | |
| I-Hip hop | Ukuhlukana kwenqulu. |
| Ama-cataract | Ama-cataract. |
| Isifo samathambo | Isifo samathambo. |
| Ukuqongelela kwamafutha emithanjeni yegazi | I-atherosclerosis. |
Iyini imbangela yalokhu? Kungani lokhu kwenzeka?
Lokhu kungenxa yoshintsho oluncane kakhulu ku-gene eyodwa emzimbeni wethu. Le gene ibizwa ngokuthi i-LMNA gene . Umsebenzi wale gene ukwenza iphrotheni ebizwa ngokuthi i-lamin A, etholakala kuyi-nucleus yawo wonke amaseli emzimbeni wethu futhi isiza ukugcina isimo sayo.
Cabanga ngamaseli ethu njengezitini, kanye ne-nucleus njengesikhungo sokulawula ngaphakathi. Iphrotheni ye-lamin A ifana nohlaka oluqinile oluzungeze leyo nucleus.
Ku-Progeria, iphutha elincane ku-gene ye-LMNA libangela ukuthi kukhiqizwe ikhophi enephutha, engajwayelekile yeprotheyini ye-lamin A esikhundleni salokho. Lokhu kubizwa ngokuthiI-Progerin . Le phrotheni ye-progerin enephutha ibangela ukuthi i-nucleus yeseli ilahlekelwe amandla ayo futhi ingazinzile. Kancane kancane, lawa maseli ayalimala futhi afe ngaphambi kwesikhathi. Uma lokhu kwenzeka kuwo wonke amaseli emzimbeni, wonke umzimba uqala ukuguga ngokushesha.
Ingabe lesi isifo esizuzwe njengefa?
Cha. Ezimweni eziningi, lokhu akulona ifa. Lokhu kungukuguquka kwezakhi zofuzo okungahleliwe. Lesi yisimo esilawulayo se-autosomal . Lokhu kusho ukuthi ngisho nokuba nekhophi eyodwa yezakhi zofuzo ezinephutha kwanele ukubangela lesi sifo.
Kodwa, kukhona into eyodwa. Uma usuvele unengane ene-Progeria, ingozi yokuthi omunye umntwana athole lesi simo iphakeme kancane, phakathi kuka-2% no-3%. Lokhu kungenxa yesimo esibizwa ngokuthi i-mosaicism . Lokhu kusho ukuthi omunye wabazali unalolu shintsho lwezakhi zofuzo kwamanye amaseli omzimba wakhe (isibonelo, emaseli akhiqiza isidoda noma amaqanda), kodwa awabonisi zimpawu. Ngakho-ke, uma ingane yakho ine-Progeria, kubaluleke kakhulu ukufuna ukuhlolwa kwezakhi zofuzo nokukhuluma nodokotela wakho ngalokhu.
Lesi sifo sitholakala futhi siphathwa kanjani?
Udokotela wakho angase asole lesi simo ngokusekelwe ekubukekeni komzimba wengane yakho kanye nezimpawu zayo. Ukuqinisekisa ukuxilongwa, kuzothathwa isampula yegazi lengane bese kwenziwa ukuhlolwa kofuzo.
Into ebalulekile ukuthi akukabikho ikhambi eliqinisekile le-Progeria. Kodwa-ke, kunezindlela zokwelapha ezingaphatha lesi sifo futhi zithuthukise impilo yengane kanye nekhwalithi yempilo.
Izindlela zokwelapha
1. Imithi: Umuthi iLonafarnib usetshenziselwa lokhu. Lo muthi, owasungulwa ekuqaleni ukwelapha umdlavuza, utholakale ukuthi usiza ekunciphiseni ukuqhubeka kweProgeria. Lo muthi uboniswe ukuthi wandisa isilinganiso sokuphila kwezingane cishe ngeminyaka engu-2.5. Lokhu,
- Kwandisa ukuguquguquka kwemithambo yegazi.
- Kuqinisa isakhiwo samathambo.
- Kusiza ukwandisa isisindo somzimba.
- Kuthuthukisa ikhono lokuzwa.
2. Ukwelashwa Komzimba Nokwelashwa Komsebenzi:
Ukwelashwa ngokomzimba kusiza ukugcina ukunyakaza kwamalunga engane, ibhalansi, kanye nesimo sayo. Ukwelashwa ngokomsebenzi kusiza ingane ukuthi ifunde ukudla yodwa, igcine inhlanzeko yomuntu siqu, futhi yenze imisebenzi yansuku zonke kalula, njengokubhala.
3. Ukuqashwa njalo kwezokwelapha:
Ingane ene-Progeria idinga ukubhekwa njalo kwezokwelapha ukuze izinkinga ezingaba khona zitholakale futhi ziphathwe ngokushesha.
| Isigaba Sokwengamela | Izinto okufanele zenziwe |
|---|---|
| Isifo senhliziyo | Ukuqapha njalo umfutho wegazi, ukuhlolwa kwenhliziyo, kanye nokunye ukuhlolwa. Ukunikeza imithi efana ne-aspirin ephansi. |
| Uhlelo lwezinzwa | Ukwenza amaskeni afana ne-MRI ukuhlola izimo zokuhlaselwa yisifo sohlangothi. |
| Amehlo | Ukuhlolwa kwamehlo njalo ngenxa yezimo ezinjengokubona okungekuhle, amehlo omile, njll. Ukuntuleka kwezinkophe kwandisa ingozi yokungena kothuli emehlweni. |
| Ukuzwa | Ukulahlekelwa ukuzwa kungase kwenzeke futhi kungadingeka izinsiza zokuzwa. |
| Impilo yamazinyo | Izinkinga ezinjengokuphuphuma kwamazinyo okuphuzile, ukuminyana kwamazinyo, kanye nemigodi zivamile. Kubalulekile ukuvakashela udokotela wamazinyo njalo. |
| Ukudla okunempilo | Kubalulekile ukunikeza ingane amakhalori noketshezi okwanele. Uma kudingeka, kungasetshenziswa ipayipi lokuncelisa. |
Unakekela kanjani ingane yakho njengomzali?
Ukuthola ukuthi ingane yakho ine-Progeria kuyinto enzima ukubhekana nayo. Kungazwakala kungaphezu kwamandla. Kodwa awuwedwa kulolu hambo. Into ebaluleke kakhulu ukudala indawo yasekhaya evamile nejabulisayo ngangokunokwenzeka enganeni yakho.
- Nikeza impilo evamile:Vumela ingane yakho ukuthi ihlanganyele kuyo yonke imisebenzi engayenza, futhi uqiniseke ukuthi ayizizwa ishiywe ngaphandle kwabanye abantwana emndenini.
- Khuluma iqiniso: Khuluma nengane yakho ngesimo sayo ngendlela eyiqondayo futhi evumelana nobudala bayo. Kubalulekile ukuba nengxoxo eqotho ngalokhu nawo wonke umuntu emndenini. Uma kudingeka, funa iseluleko somndeni.
- Lungiselela ingane yakho ukusabela kwabanye abantu: Abanye abantu bangase babuke ingane yakho ngokumangala noma ngokuhlebeza. Fundisa ingane yakho ukuthi ingabhekana kanjani nezimo ezinjalo.
- Xhumana nesikole: Izingane eziningi ezine-Progeria ziya esikoleni. Xhumana njalo nabaphathi besikole, othisha, nabahlengikazi ukuqinisekisa ukuphepha nenduduzo yengane yakho. Yenza uhlelo lokuthi yini okufanele uyenze uma kwenzeka isimo esiphuthumayo (isib. ubuhlungu besifuba, ubunzima bokuphefumula) bese ugcina isikole sinolwazi.
Khumbula, ukuthola ukwesekwa yithimba lezokwelapha lengane yakho, abelaphi, kanye nabanye abazali kuzosiza kakhulu ekwenzeni lolu hambo lube lula.
Umlayezo Wokuya Nawe Ekhaya
- I-Progeria yisifo esingavamile kakhulu esibangela imizimba yezingane ukuthi iguge ngokushesha okukhulu.
- Lokhu ngokuvamile akuyona inkinga yofuzo, kodwa kubangelwa ukuguquka kwezakhi zofuzo okungahleliwe.
- Akukho nkinga ngezinga lokuhlakanipha lalaba bantwana. Inkinga isejubaneni lokukhula ngokomzimba kanye nokuguga.
- Nakuba kungekho ikhambi eliqondile lalokhu okwamanje, imithi, ukwelashwa ngokomzimba, kanye nokuqapha njalo kwezokwelapha kungaphatha izimpawu futhi kuthuthukise impilo yengane kanye nekhwalithi yokuphila.
- Ukusekelwa okuqinile okuvela kubazali, emndenini, kanye nethimba lezokwelapha kubalulekile ukuze ingane iphile impilo ejabulisayo nejwayelekile ngangokunokwenzeka.
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