Ukuguga kuyinkqubo engenakukhunjulwa echaphazela wonke umntu, ehamba ngokukhawuleza nangokuqhubekayo. Nangona kunjalo, kukho isifo apho le nkqubo ikhula ngokukhawuleza, ichaphazela zonke izitho kunye neenkqubo. Esi sifo sibizwa ngokuba yi-progeria (ukusuka kwisiGrike-ngaphambi kwexesha elidala), kuyinto engaqabile kakhulu (1 imeko kubantu abane-4 ukuya kwezi-8 zezigidi), kwilizwe lethu kukho amacala amaninzi okuphambuka. Kukho iindlela ezimbini eziphambili zokuhamba phambili: i-Hutchinson-Guilford syndrome (inkqubela phambili yabantwana) kunye ne-Werner's syndrome (inkqubela phambili yabantu abadala). Ngaloo mva siza kuthetha kwinqaku lethu.
Werner's Syndrome - imfihlakalo yesayensi
U-Werner's syndrome yachazwa okokuqala ngudokotela waseJamani u-Otto Werner ngo-1904, kodwa ngoku, i-progeria isisifo esingaziwayo, ngokuyinhloko ngenxa yezinto ezingaqhelekanga. Kuyaziwa ukuba le yintlupheko yesifo esibangelwa ukuguqulwa kwemfuza, ezuze ilifa.
Namhlanje, izazinzulu ziye zazimisela ukuba i-Werner's syndrome iyisifo esiphezulu se-autosomal. Oku kuthetha ukuba izigulane ezineenkqubela phambili ziyafumana ngokukodwa kwimiba kunye nomama omnye wesifo esingasondelanga esifakwe kwi-chromosome yesibhozo. Nangona kunjalo, kude kube ngoku akunakwenzeka ukuqinisekisa okanye ukukhanyela ukuxilongwa ngokuhlalutya kwemizimba.
Izizathu zokuqhubeka kwabantu abadala
Isizathu esibalulekileyo sesifo sokuguga kwangasese sihlala singagqitywanga. Izaziso ezonakalisiweyo ezikhoyo kwi-gene apparatus zabazali bezigulane ezinokuqhubekayo azichaphazeli umzimba wazo, kodwa xa zidibanisene zikhokelela kwisiphumo esibi, ukugweba umntwana ukuba ahlupheke kwixesha elizayo kunye nokuhamba kwangaphambi kokuphila. Kodwa yintoni ekhokelela ekutshintshisweni kwezinto ezinjalo kungabonakali.
Iimpawu kunye nesikolo sesifo
Ubonakaliso bokuqala be-Werner's syndrome buba phakathi kweminyaka eyi-14 no-18 (ngamanye amaxesha emva koko), emva kwexesha lokukhulelwa. Kuze kube ngeli xesha, zonke izigulane zikhula ngokuqhelekileyo, kwaye ngoko emzimbeni wazo iinkqubo zokudinwa kwazo zonke iinkqubo zokuphila ziqala. Njengomthetho, okokuqala izigulane zigugu, ezidla ngokudibanisa neenwele. Kukho utshintsho olusenyameni kwesikhumba: ukuma, imibimbi , ukuxuba, ukuqina kwesikhumba, iphola.
Kukho uluhlu oluninzi lwezifo ezihlala zihamba kunye nokuguga ngokwemvelo: i- cataracts , i-atherosclerosis, izifo ze-cardiovascular disorders, i-osteoporosis, iintlobo ezahlukahlukeneyo ezinobungozi obubi kunye neentlungu ezimbi.
Iingxaki ze-Endocrine ziyakuboniswa: ukungabikho kwempawu zesondo zesibini kunye nokuya esikhathini, ukuhlambuluka, ilizwi eliphakamileyo, ukungasebenzi kwesifo se-thyroid, isifo sikashukela esinga-insulini. I-Atrophy izicubu ezinamafutha kunye nezihlunu, iingalo kunye nemilenze yenzeke ngokungahambi kakuhle, ukuhamba kwabo kunqongophele.
Uboniswe kwishintsho esomeleleyo kunye nempawu zobuso - ziboniswa, iinki zikhupha ngokukhawuleza, impumlo ifumana ukufana nentsimbi yeentaka, umlomo uyancipha. Xa uneminyaka engama-30 ukuya kuma-40 ubudala, umntu onomntu omdala ohamba phambili ukhangeleka njengomntu oneminyaka engama-80 ubudala. Izigulane zikaMerner's syndrome aziqhelanga ukuba ziphile iminyaka engama-50, zifa ngokuqhelekileyo ngenxa yomhlaza, ukuhlaselwa yintliziyo okanye isifo.
Unyango lwabantu abadala
Ngelishwa, akukho ndlela yokukrazula esi sifo. Ulwaphulo lujoliswe kuphela ekupheliseni iimpawu ezikhulayo, kunye nokukhusela izifo ezidibeneyo kunye nezigwenxa. Ngokuphuhliso lweplastiki, kwakunokwenzeka kwakhona ukulungisa ngokucacileyo ukubonakaliswa kwangaphandle kokuguga kwangaphambili.
Okwangoku, iimvavanyo zenziwa unyango lwe-Werner syndrome ngama-stem cells. Ihlala isenokuba nethemba lokuba iziphumo ezilungileyo ziya kufumaneka kwikamva elikufutshane.