Ngaba umntwana wakho ubonakala ekhula ngokukhawuleza? Makhe sithethe ngeProgeria!

Owu, ngamanye amaxesha kuyadabukisa ukubona abantwana bethu abancinci begula, akunjalo? Ingakumbi, ukuba umntwana ubonakala emdala kakhulu kuneminyaka yakhe, abazali baziva njani xa bembona? Namhlanje siza kuthetha ngesifo esingaqhelekanga, kodwa esibaluleke kakhulu ekufuneka sazi ngaso. Esi sisifo esibizwa ngokuba yi-'Progeria'. Esi sisifo semfuza esenza umntwana aguge ngokukhawuleza kuneminyaka yakhe.

Yintoni i-'Progeria'? Masiyiqonde ngokulula, akunjalo?

Ngamafutshane, iProgeria sisifo esingaqhelekanga semfuza. Okwenzekayo koku kukuba umntwana uguga ngokukhawuleza. Khawuthelekelele, xa utyala isityalo esincinci, sikhula kancinci kancinci. Kodwa abantwana abanesi sifo ngequbuliso bakhula ngokukhawuleza baze babonakale bebadala.

Ekuzalweni, aba bantwana badla ngokuba sempilweni kwaye bafana nabanye abantwana. Kodwa kunyaka wokuqala okanye emibini yobomi, baqala ukubonisa iimpawu zokwaluphala ngaphambi kwexesha. Isantya sabo sokukhula siyehla, kwaye ubunzima babo abunyuki njengoko bekulindelwe. Nangona kunjalo, aba bantwana bahlala bengenaso isiphene sobukrelekrele. Kufuneka sikhumbule oko.

Nazi ezinye zeendlela ezitshintsha ngayo umzimba ezibangelwa yile meko:

• Ukulahlekelwa ziinwele (impandla)
• Amehlo avele ngaphandle
• Ulusu oludala, olunemibimbi
• Impumlo encinci, ebukhali
• Ubuso obuncinci ngokungalinganiyo xa buthelekiswa nobukhulu bentloko
• Ukulahleka komgangatho weoyile phantsi kwesikhumba

Igama elithi "Progeria" livela kwigama lesiGrike elithi "geras", elithetha "ubudala". Uhlobo oluphambili lwesi sifo lubizwa ngokuba yiHutchinson-Gilford Progeria Syndrome (HGPS). Saqala ukuchazwa ngasekupheleni kweminyaka yoo-1800 ngoogqirha ababini, uGqr. Jonathan Hutchinson kunye noGqr. Hastings Gilford.

Okubuhlungu kukuba, iProgeria isoloko isisifo esibulalayo. Ubudala obuqhelekileyo bokufa kwaba bantwana bumalunga neminyaka eli-14.5. Nangona kunjalo, abanye abantu abaselula abaneProgeria baphile bade bafikelele kwiminyaka yabo yama-20. Iyeza elibizwa ngokuba yiLonafarnib lifunyenwe linciphisa ukuqhubela phambili kwesi sifo.

Uninzi lokufa lubangelwa ziingxaki ezibangelwa yi-atherosclerosis enzima . Esi sisifo sentliziyo esifanayo nesidla ngokuchaphazela izigidi zabantu abadala. Kodwa sichaphazela aba bantwana besebancinci kakhulu. I-atherosclerosis yimeko apho iidipozithi zamafutha (i-plaque) zakheka ngaphakathi kweendonga zemithambo yegazi (imithambo yegazi), nto leyo eyenza ukuba ingaguquguquki kwaye ibe nzima. Oku kunokukhokelela kwiimeko ezifana nokuhlaselwa yintliziyo okanye istroke.

Ngubani ochaphazeleka kakhulu yiProgeria?

I-Progeria yimeko engaqhelekanga yemfuza enokuchaphazela nabani na. Ihlala ibangelwa kukuguquka kwemfuza okungaqhelekanga. Oku kuthetha ukuba akukho mntu kusapho lwakhe okhe waba nesi sifo ngaphambili .

Ixhaphake kangakanani iProgeria?

Oku kunqabile kakhulu. Kuphela ngomnye kwizigidi ezine zokuzalwa emhlabeni ochaphazeleka yile meko. Kuqikelelwa ukuba okwangoku kukho abantwana abamalunga nama-400 kunye nabantu abancinci abaneProgeria kwihlabathi liphela.

Zithini iimpawu zeProgeria?

Iimpawu zeProgeria ziyafana nezo abantu abazibonayo xa bekhula ngesiqhelo. Nangona kunjalo, zibonakala besebancinci kakhulu. Kwiminyaka emibini yokuqala yobomi, abantwana abaneProgeria baqala ukubonisa ezi mpawu zokwaluphala ngokukhawuleza:

• Ukulibaziseka kokukhula/ukuba mfutshane.
• Ukushwabana kolusu.
• Ukulahleka kweenwele (impandla).
• Ukuqina kwamalungu kunye nobunzima bokuhamba.
• Ulusu oluqinileyo nolurhabaxa, olufana nesifo esibizwa ngokuba yi-'Scleroderma'.
• Ukuncipha kwamafutha omzimba.

Ukungahambi kakuhle kwentloko kungabandakanya:

• Indawo ethambileyo ngaphambili entloko (i-fontanelle) ivulekile kakhulu.
• Ubuso obumxinwa xa buthelekiswa nobukhulu bentloko (i-macrocephaly - apho intloko inkulu kodwa ubuso buncinci).
• Impumlo etsolo.
• Ukulibaziseka kokuqaqanjelwa kwamazinyo.
• Umhlathi omncinci (ongakhulanga kakuhle) (`micrognathia`).

Njengoko isifo siqhubeka, iimpawu ezingacacanga kangako ezifana nezi zinokuvela:

• Ukuphuma kwesinqe.
• IiCataracts.
• Isifo samathambo.
• Ukwakheka kweplaque kwimithambo yegazi.

Yintoni ebangela iProgeria?

Eyona nto ibangela iProgeria kukuguquka kwezakhi zofuzo kwi-gene ebizwa ngokuba yi-LMNA. Le gene ye-LMNA inoxanduva lokwenza iproteni ebizwa ngokuba yi-lamin A, enceda ekubambeni i-nucleus yeseli nganye emzimbeni wethu kunye. Cinga ngayo njengeendonga zendlu yeseli.

Utshintsho oluncinci kakhulu kwi-gene ye-`LMNA` lubangela uhlobo olungaqhelekanga lweproteni ye-`lamin A`, ebizwa ngokuba yi-`progerin`. Le `progerin` ithatha indawo ye-`lamin A` kwaye iphazamise i-nuclei yeeseli zethu, iyonakalisa kancinci kancinci. Oku kubangela ukuba yonke iseli emzimbeni wethu ife ngokukhawuleza. Yiyo loo nto ibangela le nkqubo yokwaluphala ngaphambi kwexesha.

Ngaba iProgeria ifunyanwa njengelifa?

I-Progeria isenokuba ibangelwa kukuguquka okutsha, okwenziwa ngokungacwangciswanga (`de novo` mutation) kwi-`LMNA` gene. Oku kuthetha ukuba ayizuzwa kubazali. Ngokuqhelekileyo, olu tshintsho lwenzeka ngaphambi kokukhulelwa, kwi-sperm.

Ingaba iProgeria inamandla okanye inamandla kakhulu?

I-Progeria sisifo esilawulayo se-autosomal, nto leyo ethetha ukuba nokuba iseli nganye inekopi enye yejini eguquliweyo, yanele ukubangela esi sifo.

Ifunyaniswa njani iProgeria?

Ugqirha womntwana wakho unokukwazi ukuxilonga imeko ngokusekwe kwinkangeleko yomzimba yomntwana wakho. Uza kumxilonga umntwana wakho aze akubuze ngeempawu zakho. Ukuba kurhanelwa ukuba iProgeria inesifo, uvavanyo lwemfuza lunokwenziwa ukuqinisekisa ukuba unesifo. Oku kuquka ukuthatha isampuli yegazi kumntwana wakho.

Ziziphi iindlela zonyango lweProgeria?

Okwangoku akukho nyango lweProgeria. Nangona kunjalo, abaphandi bafunda amayeza aliqela anokunyanga le meko. Iyeza elisetyenziselwa ukunyanga iProgeria libizwa ngokuba yiLonafarnib (Zokinvy™). Liyeza elenzelwe ukunyanga umhlaza. Nangona kunjalo, iLonafarnib ibonakalise ukuphucuka kwiinkalo ezininzi zeProgeria. Umyinge wobomi babantwana abanesifo unyuswe malunga neminyaka emibini enesiqingatha. Umntwana ngamnye othatha eli yeza ubonakalise ukuphucuka kwenye okanye ngaphezulu kwezi ndawo zine zilandelayo:

• Ukuguquguquka okukhulu kwemithambo yegazi.
• Uphuhliso lwesakhiwo samathambo.
• Ukutyeba kwakho.
• Ukuphucula amandla okuva.

Unyango lomzimba lunokunceda umntwana wakho ukuba aqhubeke nokuhamba kakuhle, ulungelelwano, kunye nokuma kakuhle. Lunokunceda ekunciphiseni iintlungu ezinqeni nasemilenzeni. Unyango lomsebenzi lunokunceda umntwana wakho aphucule ukutya, ucoceko lomntu, kunye nokubhala ngesandla.

Eyona nto ibalulekileyo kukubonelela umntwana wakho ngenkathalo ayidingayo ukuze aphile ubomi obusempilweni nobonwabisayo kangangoko kunokwenzeka.

Ugqirha womntwana wakho uza kujonga aze alawule le meko ngezinto ezifana nezi:

• Ukuhlolwa kwesifo sentliziyo: Ugqirha womntwana wakho uza kujonga uxinzelelo lwegazi lomntwana wakho aze enze uvavanyo olufana ne-echocardiograms rhoqo. Amayeza e-aspirin kunye ne-statin aphantsi anokunceda ukunciphisa umngcipheko wesifo sentliziyo.
• Uvavanyo lokufota (umz., iMagnetic Resonance Imaging - MRI): Ugqirha usebenzisa uvavanyo lokufota olufana neMRI ukujonga isifo sohlangothi, okanye ukujonga iintloko ezibuhlungu okanye ukuxhuzula rhoqo.
• Ukuhlolwa kwamehlo rhoqo: Umntwana wakho usenokuba neengxaki zamehlo ezifana nokungaboni kakuhle okanye amehlo omileyo. Amehlo omileyo anokubakho kuba amehlo awavali ngokupheleleyo. Njengoko isifo siqhubeka, umntwana usenokuba ne-cataracts. Amashiya kunye neenkophe zinokuba zincinci okanye zinyamalale. Oku kwenza kube lula ukuba ukungcola kunye nenkunkuma zingene emehlweni. Kwakhona, umntwana unokuba novakalelo olukhulu ekukhanyeni. Ke ngoko, kusenokufuneka ukuba unxibe iiglasi zelanga ngamanye amaxesha.
• Uvavanyo lokuva:Umntwana usenokuba nokulahlekelwa kukuva. Oku kunokulungiswa ngezixhobo zokuncedisa ukuva.
• Ukuhlolwa rhoqo kwamazinyo: Umntwana wakho unokuba neengxaki zamazinyo ezifana nokuxinana, ukuxinana, ukulibaziseka kwamazinyo, kunye nokuphuma kweentsini. Ukutyelela rhoqo ugqirha wamazinyo kunokunceda ukujonga nokunyanga ezi ngxaki.
• Iingxaki zolusu: Ugqirha uza kujonga amabala amnyama okanye amaqhuma eluswini lomntwana. Baza kujonga nokulahleka kweenwele, ukurhawuzelelwa, kunye nokuqina kolusu (okunokunciphisa intshukumo kwaye kwenze kube nzima ukuphefumla okanye ukugaya ukutya).
• Ukujonga impilo yamathambo: Umntwana unokufumana iingxaki ezininzi ezinxulumene nokukhula nokukhula kwamathambo. Unokufumana neengxaki zamalungu.

Umntwana wakho udinga isondlo esaneleyo ukuze akhule. Usenokufuna isondlo esongezelelweyo (njengetyhubhu yokondla). Ukugcina umntwana wakho enamanzi aneleyo (anikwe amanzi) kunokunceda ukunciphisa umngcipheko weengxaki ze-neurological ngequbuliso. Thetha nogqirha womntwana wakho malunga neendlela ezisempilweni zokufumana iikhalori ezaneleyo kunye nomswakama owaneleyo.

Ngaba iProgeria ingathintelwa?

I-Progeria yimeko engaqhelekanga kakhulu yemfuza engenakukhuselwa. Idla ngokubangelwa kukuguquka kwemfuza entsha. Oku kuthetha ukuba yenzeka ngokungacwangciswanga. Ekubeni le meko ingaqhelekanga ukuba yenzeke kwiintsapho, kunzima ukuyiqikelela. Nangona kunjalo, ukuba unomntwana omnye one-Progeria, amathuba okuba omnye umntwana afumane esi sifo ayanda kancinci. Usenokufuna ukuqwalasela uvavanyo lwemfuza ukuze ufumane umngcipheko wakho.

Ingakanani iminyaka yobomi bomntu oneProgeria?

I-Progeria yimeko ebulalayo ebangela ukufa kwangethuba. Umyinge wobomi bomntu one-Progeria umalunga neminyaka eli-14.5. Nangona kunjalo, abanye abantwana bafa beselula nje ngeminyaka emi-6 ubudala. Kwakhona, abanye abantu abaselula abane-Progeria baphila befikelela kwiminyaka yabo yama-20.

Ukufa kudla ngokuba ngenxa yeengxaki zesifo esithi `Atherosclerosis`. Ngaphezulu kwama-80% okufa kubangelwa `ukusilela kwentliziyo` kunye/okanye `ukuhlaselwa yintliziyo`. Unyango olusebenzisa iyeza elithi `lonafarnib` lubonakalise iziphumo ezilungileyo. Luye lwandisa ixesha lokuphila kwabantu abane `Progeria` malunga neminyaka emibini enesiqingatha.

Ukuba umntwana wam uneProgeria, ngaba nabanye abantwana bam bayayifumana?

I-Progeria ibangelwa kukuguquka kwezakhi zofuzo okungaqhelekanga, kwaye ayiqhelekanga ukuba ivele kwiintsapho. Amathuba okuba nomntwana one-Progeria amalunga ne-1 kwizigidi ezi-4. Nangona kunjalo, ukuba unomntwana omnye one-Progeria, akunakwenzeka ukuba omnye umntwana abe nayo.Amathuba aphezulu, phakathi kwe-2% kunye ne-3%. Oku kungenxa yemeko ebizwa ngokuba yi-mosaicism. Kwi-mosaicism, ipesenti encinci yeeseli kumzali omnye ine-gene mutation yeProgeria, kodwa loo mzali akanaso esi sifo. Ukuba umntwana wakho uneProgeria, ungacinga ngokuvavanya i-genetic ukuze ufumane ukuba omnye umntwana usemngciphekweni wokufumana esi sifo.

Ukuba umntwana wam uneProgeria, ndingamnyamekela njani?

Ukuba umntwana wakho uneProgeria, zama ukudala imeko-bume yasekhaya eqhelekileyo kangangoko kunokwenzeka. Mbandakanye umntwana wakho kwimisebenzi emininzi kangangoko kunokwenzeka. Kodwa ungavumeli abanye abantwana kusapho lwakho bazive ngathi abanalo ingqalelo.

Xa uthetha nosapho lonke malunga nokuba umntwana wakho oneProgeria uza kuphila iminyaka ethile kuphela, thetha inyaniso kodwa ulungele iminyaka yakhe. Iiseshoni zokunika iingcebiso zinokuba luncedo kwiimeko ezininzi.

Kwakhona, thetha nomntwana wakho ngendlela abanye abantu abaya kumangaliswa ngayo uze umjonge ngendlela eyahlukileyo. Thetha nomntwana wakho ngendlela afanele asabele ngayo xa umntu emjonga ngendlela engaqhelekanga okanye ehleba.

Ngaba umntwana oneProgeria angaya esikolweni?

Abantwana abaninzi abaneProgeria bayaya esikolweni. Basenokufuna indawo yokuhlala ukuze babancede bathathe inxaxheba ngokupheleleyo, bazive bekhululekile, kwaye bakhuselekile. Kufuneka udibane rhoqo nabaphathi besikolo somntwana wakho, abahlengikazi, iingcali zonyango, kunye nootitshala. Oku kuya kunceda wonke umntu ukuba asebenzisane ukuhlangabezana neemfuno zomntwana wakho. Oku kuquka ukwenza isicwangciso kunye nokwabelana ngaso naye wonke umntu ukuba umntwana wakho ufuna unyango olungxamisekileyo esikolweni (umzekelo, ukuba ngequbuliso unengxaki yokuphefumla okanye iintlungu zesifuba).

Yintoni 'i-progeria yeentsana ezisandul' ukuzalwa'?

Ukongeza kwi-Hutchinson-Gilford progeria syndrome, kukho nezinye iimeko ezininzi ezibangela ukwaluphala kwangethuba. Ezi zibizwa ngokuba yi-progeroid syndromes. I-Neonatal progeria, eyaziwa ngokuba yi-neonatal progeroid syndrome, yenye yazo. Eyaziwa ngokuba yi-Wiedemann-Rautenstrauch syndrome, le meko ibangela ukulibaziseka kokukhula kunye nokushwabana kolusu. Nangona kunjalo, i-neonatal progeroid syndrome ifunyanwa njengelifa ngendlela ye-autosomal recessive. Oku kuthetha ukuba esi sifo senzeka kuphela ukuba zombini iikopi ze-gene eziguquliweyo zizuzwe njengelifa kwiseli nganye.

Ukufumanisa ukuba umntwana wakho uneProgeria kunokuba yinto enzima nedidayo. Ugqirha womntwana wakho unokukunceda wena nosapho lwakho ukuba nijongane nokuxilongwa. Angakunceda uqonde iindlela zonyango ezinokucothisa ukuqhubela phambili kwesi sifo. Abazali abaninzi babantwana abaneengxaki zemfuza ezifana neProgeria bafumana amaqela enkxaso eluncedo kakhulu. Ukubuza imibuzo, ukufunda ngamava ezinye iintsapho kunokuba yintuthuzelo, kwaye kunokukunceda uzive ngathi awuwedwa.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Progeria yimeko engaqhelekanga kakhulu, kodwa esongela ubomi, nto leyo ebalulekileyo ekufuneka iqatshelwe.

• Esi sisifo esibangelwa yimfuza: sidla ngokubangelwa kukuguquka kwemfuza okusandul’ ukwenzeka.
• Ukwaluphala ngokukhawuleza luphawu oluphambili: Izinto ezifana nokubonakala komntwana, ulusu lwakhe, namathambo akhe ziyaguga ngokukhawuleza.
• Ubukrelekrele abuchaphazeleki: Inqanaba lobukrelekrele laba bantwana liqhelekile.
• Kukho unyango, kodwa akukho nyango: Amayeza afana neLonafarnib anokunciphisa ukuqhubela phambili kwesi sifo aze anyuse ixesha lokuphila. Kodwa unyango olupheleleyo alukafumaneki.
• Uthando nenkxaso kumntwana zibaluleke kakhulu: ukunceda umntwana aphile ubomi obuqhelekileyo, ukumqonda, kunye nokumnika unyango olufunekayo kubaluleke kakhulu.
• Awuwedwa: thetha nezinye iintsapho ezijongene neemeko ezifanayo, fumana inkxaso, kwaye ucele iingcebiso koogqirha.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unamathandabuzo, ungalibali ukubonana nogqirha.

I- Progeria, izifo zemfuza, ukwaluphala ngaphambi kwexesha, i-LMNA gene, i-lonafarnib, impilo yabantwana, izifo ezingaqhelekanga