I-Werner's syndrome

Ukuguga kuyinkinga engenakugwenywa ethinta wonke umuntu, egeleza kancane kancane futhi ngokuqhubekayo. Kodwa-ke, kukhona isifo lapho le nqubo ikhula ngokusheshisa kakhulu, ithinta zonke izitho nezinhlelo. Lesi sifo sibizwa ngokuthi i-progeria (kusukela ngesiGreki - ngaphambi kwesikhathi eside), kuyinto engavamile kakhulu (1 icala labantu abayizigidi ezingu-4 kuya kwezi-8), ezweni lethu kunezimo eziningana zokuphambuka okunjalo. Kunezinhlobo ezimbili eziyinhloko zokuqhubeka: I-Hutchinson-Guilford syndrome (ukuqhubeka kwezingane) no-Werner's syndrome (ukuqhubeka kwabantu abadala). Mayelana nalesi sigaba sizokhuluma esihlokweni sethu.

Werner's Syndrome - imfihlakalo yesayensi

I-Werner's syndrome yachazwa okokuqala ngudokotela waseJalimane u-Otto Werner ngo-1904, kodwa kuze kube manje, ukuqhubekela phambili kuyisifo esingafundiwe, ikakhulukazi ngenxa yesenzakalo esingavamile. Kuyaziwa ukuthi lokhu kuyisifo sofuzo esibangelwa ukuguquguquka kwezakhi zofuzo, okuzuze njengefa.

Namuhla, ososayensi banqume nokuthi Werner's syndrome iyisifo sokuziqhenya ngokweqile. Lokhu kusho ukuthi iziguli ezinezinyathelo eziqhubekayo zithola ngesikhathi esifanayo kusuka kubababa nomama isakhi esisodwa esingenasici esitholakala ku-chromosome yesishiyagalombili. Nokho, kuze kube manje akunakwenzeka ukuqinisekisa noma ukuphika ukuxilongwa ngokusebenzisa ukuhlaziywa kwezakhi zofuzo.

Izizathu zokuqhubeka kwabantu abadala

Isizathu esikhulu se-syndrome sokuguga kusengaphambili kusalokhu singagudluli. Izakhi zofuzo ezonakalisiwe ezikhona ezakhiweni zofuzo zabazali besiguli okuqhubekayo azithinti umzimba wazo, kodwa lapho zihlangene ziholela embikweni omubi, zilahla ingane ukuba ihlupheke esikhathini esizayo nokuhamba ngaphambi kwesikhathi. Kodwa lokho okuholela ekuguqulweni kwezakhi zofuzo okwamanje akukacaci.

Izimpawu kanye nenkambo yesifo

Ukubonakaliswa kokuqala kuka-Werner's syndrome kwenzeka phakathi kweminyaka engu-14 no-18 (ngezinye izikhathi kamuva), emva kwesikhathi sokukhulelwa. Kuze kube manje, zonke iziguli zikhula ngokujwayelekile, futhi emzimbeni wabo izinqubo zokukhathala kwazo zonke izinhlelo zokuphila ziqala. Njengomthetho, okokuqala iziguli zigugu, okuvame ukuhlanganiswa nezinwele zokulahleka. Kukhona izinguquko ezinzima esikhumbeni: ukomile, imibimbi , ukuguqula umzimba, ukuqina kwesikhumba, okuphaphathekile.

Kunezinhlobo ezahlukene zezifo ezivame ukuhambisana nokuguga ngokwemvelo: izifo , isifo sokushaya isifo sofuba, isifo se-cardiovascular disorders, ukuphazamiseka kwamathambo, izinhlobonhlobo zezingqikithi ezinobungozi nezimbi.

Izinkinga ze-endocrine nazo zibonwa: ukungabikho kwezibonakaliso zesibindi zesiguli nokuya esikhathini, ukuthobeka, izwi eliphakeme, ukungasebenzi komzimba we-thyroid, isifo sikashukela esingenqamuki nesifo sikashukela. I-Atrophy izicubu ezinamafutha nemisipha, izingalo nemilenze zihamba kancane, ukuhamba kwazo kulinganiselwe.

Kuboniswe ushintsho olunamandla nezici zobuso - ziba zikhonjisiwe, izimpukane zihamba kahle, impumu ithola ukufana komlomo wezinyoni, umlomo uyancipha. Lapho uneminyaka engama-30-40 ubudala, umuntu onomuntu omdala ohamba phambili ubukeka njengomuntu oneminyaka engu-80 ubudala. Iziguli ezine-Werner's syndrome zivame ukuhlala iminyaka engaba ngu-50, zibulawa kaningi ngenxa yomdlavuza, ukuhlasela kwenhliziyo noma isifo sohlangothi.

Ukwelashwa komuntu omdala oqhubekayo

Ngeshwa, ayikho indlela yokususa lesi sifo. Ukwelashwa kuhloswe kuphela ekuqedeni izimpawu ezivelayo, kanye nasekuvimbeleni izifo ezithinta izifo kanye nezikhukhula zabo. Ngokuthuthukiswa kokuhlinzwa kwepulasitiki, kwakungenzeka futhi ukulungisa kancane ukubonakaliswa kwangaphandle kokuguga ngaphambi kwesikhathi.

Njengamanje, ukuhlolwa kwenziwa okwelashwa kukaWerner syndrome ngama cell stem. Kusalindeleke ukuthi kulindeleke ukuthi imiphumela emihle izotholakala esikhathini esizayo esiseduze.