Abantwana Progeria: Ingaba unabo abantwana ithuba?

Abantwana Progeria - isifo isimilo yemfuza, ekhokelela utshintsho vuhlayiseki kwi izibilini kwenkqubo ngenxa yokuguga ngaphambi yonke eziphilayo. Ngokuba lixesha lokuqala sifo sele zichongiwe kwaye kuchazwe 1889 nguYohane. Hutchinson kunye ngokuzimeleyo ngo-1904 yi J. Guilford. Ngaphandle kokuba abantwana progeria - isifo ezinqabe kakhulu, ekubeni ukufunyanwa wayo ochazwe amatyala angaphezu kwama-150. Yaye ngamnye kubo efunda ngononophelo eziliqela izazinzulu.

enye kuzalwa oogqirha 7 yezigidi kuphela ithole syndrome ka hutchinson-Gilford. Abantwana Progeria okhula ngokukhawuleza - kanye ngonyaka iminyaka emzimbeni wakhe kwiminyaka 5-9. Amatakane kwiimeko ezinqabileyo sisinde iminyaka engama-23 ubudala, bebulawa isifo lifana ngakumbi abadala. Iimpawu zokuqala "yokwaluphala, abantwana" kuvela abantwana besebancinane (iminyaka 2-3).

Njengoko ayisekho impatho enjalo, oko kukuthi, amayeza baqeshwa kuphela unyango kwangumqondiso abanezigulo icala. Kodwa izazinzulu ehlabathini jikelele abafunda le ngxaki kwaye bafuna iindlela ezisebenzayo ukujongana nayo.

progeria ezilandelayo obubonakala abantwana Lubonakala esithi:

• ebudodeni amancinci;
• ukukhanya (13-22 kg);
• isikhumba kunawo, apho iimpahla ezibonakalayo;
• kade-ezihambayo amalungu izandla neenyawo;
• intloko elikhulu, kodwa kwangaxeshanye - umntu encinane;
• ngelizwi eliphezulu-edluliswa.

Ezibangela isifo

Zonke izazinzulu ziyavuma ukuba abantwana progeria ayikho isifo, into njengelifa. Ihlabathi eyaziwa kuphela intsapho, apho bonke abantwana 3 ilifa onaso.

Akunjalo eside edlulileyo kwakucingwa ukuba isizathu kuphela i "yobudala yabantwana" - ukuba ukuguquka ye isakhi esinye obandakanyeka ekubunjweni kwiproteni lamin A. I nuclei iseli nakhelwe phezu ngenxa kwiproteni. Kwinkqubo zenguquko prelamina A protini ukuba ukusilela abaqolileyo. Ngenxa yoko, ngenxa lamin ngenxa A kwahlukile kakhulu ukusuka iproteni eqhelekileyo. Oku kukhokelela ezahlukahlukeneyo utshintsho zophendlo lwezifo kwi umzimba lo mntwana, nto leyo luphawulwa sisifo hutchinson-Gilford. Abantwana Progeria ziqala ukuba inkqubela, ebangela ukwaluphala kwexesha.

Kodwa ezinye izazinzulu abeyifumene enye sofuzo le DNA, kuguquka leyo kuye kubangele ukuba esi sifo. iinkqubo ayibuyiseki umva e BAF-1 gene iziphene zophuhliso -prichina iiseli ndizayo. Ukususela BAF-1 naye esinxibelelana nezinye iiproteni, i yemfuza isakhiwo yayo kubangela ukuphazamiseka kwezinye iiprothini.

Ingaba kukho ithuba?

Ukuza kuthi ga ngoku, oosonzululwazi bajongene umsebenzi onzima ukugqiba lihlolisisa yenkqubo sofuzo wezakhi. Kwaye ukuba baphumelele, ngoko abantwana abagulayo baya kuba nethuba wokwenene lokuphumelela abantwana progeria, kunye noogqirha - ukuthintela ukwenzeka kwayo.

Kufuneka kuqatshelwe izigulane ezininzi enethemba betyhafile losindiso. izazinzulu US baqalise ulingo lwezonyango ngayo anti-esi sifo. Yinto enokwenzeka, naxa kunjalo, ukuba wonke umntwana unako ukuphila ngokuvisisana kweli xesha. Kodwa nayiphi na imeko, ukuba ezi mvavanyo ayaphumelela kwaye progeria nabantwana woyisiwe, iya kuba uloyiso bonke abo benza yonke into ukuze ugcine abantwana babo sisifo esibi ngolo hlobo.