Werner Syndrome: incazelo kanye nezimpawu

Inqubo ukuguga, eqinisweni, ngenakugwemeka kuwo wonke umuntu, kodwa kancane kancane futsi kancane, ngakho umuntu has isikhathi ukujwayela izinguquko ezenzeka emzimbeni wakhe. Kuze kube manje, akwaziwa ukuthi waphelelaphi eziyinkimbinkimbi ukuze isayensi yanamuhla eye abe isifo kakhulu ngesivinini zonke izinqubo yokuguga emzimbeni - Werner syndrome Morrison.

Lesi sifo ezingavamile kakhulu, ngakho ososayensi abakwazi ukuthola indlela ephumelelayo yokwelapha. Kusinda anomaly emphakathini wanamuhla. Ngokokuqala ngqá yokuthi lokugula kusukela lesi sifo sabhalwa ngo-1904 usosayensi German. Kuze kube manje, wongqondongqondo abakhulu lwesintu ozama ukuhlola inqubo ongaziwa, elibangela ukuguga ngaphambi kwesikhathi umzimba womuntu owakheke ngayo, futhi ufuna izindlela zokunqanda ngempumelelo lesi sifo.

Lapho benza yini kulumkhuhlane?

Ngokuvamile, lesi sifo njengefa. Iziguli zithola kusukela abazali elilodwa isakhi sofuzo normal, esemgwaqweni ku-chromosome lesishiyagalombili. Ngenxa yokwehluleka kwezakhi kwenzeka, khona-ke ingane ngeke balizuze ifa la izakhi zofuzo. Zinguquko zikhonjiswe umsebenzi wonke umzimba, okufaka Ingaphandle.

Namhlanje, sithole nje ukuthi Werner Syndrome - kuyinto autosomal isifo esikhubazayo. Kodwa ukuphikisa noma uqinisekise lesi ukuxilongwa nge luhlolo zofuzo akunakwenzeka.

Izimpawu zesifo

Ibonisa umkhuba ezingavamile, izimpawu zokuqala zalesi sifo ukuvela ngemuva lapho ngineminyaka eyishumi ubudala. Eyokuqala okhathazayo retardation eqinile ukukhula. Kodwa ngaphezu kwakho konke izimpawu ezicacile kungabonwa kuphela iminyaka engu-20.

Ochwepheshe ukukhomba eziningi izimpawu eziyinhloko:

• Esikhathini kwetfulwe esifushane umuntu uphendulela grey futhi ngokushesha ilahlekelwa zonke izinwele ekhanda lakhe.
• Isikhumba iqala yobudala ngokushesha, futhi ikhombisa hyperpigmentation, imibimbi, kuba eliphaphathekile futhi yomile.

Kanye nalezi izinqubo engelapheki kubantu kukhona omningi nezinye pathologies:

• Isifo sokuqina kwemithambo yegazi.
• Lolu ngwengwezi lwakheka.
• Ukuphazamiseka inhliziyo.
• Lokhu kwakubangelwa ukukhumuzeka kwamathambo.
• neoplasms Benign nesibulalayo.

Werner sika sifo sithinta ohlelweni endocrine, ngakho umuntu angase antule izici ngokobulili yesibili: kokuya esikhathini ingekho, lapho liphezulu kakhulu iphimbo iziyaluyalu indlala yegilo, ukuthuthukisa sikashukela (insulin). Konke lokhu kuba ezijwayele abantu abanale syndrome esabekayo.

ukubukeka

Iziguli nalesi sifo ungafunda esekude, ngoba laba bantu zihluke kakhulu izici zobuso kusukela evamile. Njengomthetho, bona ukuthola ukunemba, ikhala lakhe njengomhlanga, uqhwaku inyoni, futhi kwesilevu is kakhulu izikhonzi umlomo omncane, ubuso okusaqanda kuba ifomu inhlendla emise. Futhi atrophied ngokuphelele adipose kwezicubu imisipha. Ngakho-ke, imilenze nezingalo ngokungavamile mncane - konke lokhu kuthinta ukuhamba evamile. ukunyakaza Human nzima, uyakhathala kalula futhi azikwazi ukumelana ukuzivocavoca.

Kunenye, isici esiyinhloko okuyinto libhekene uWerner syndrome. Izithombe zabantu abaphethwe yilesi sifo, eshaya: iminyaka engu-40 ubudala Babukeka kabili njengoba ubudala. Izibalo zibonisa ukuthi abantu ezigulini kwavele yalesi sifo, musa aphila iminyaka engaba ngu-50. Noma umzimba kuthinta umdlavuza, noma ukufa kwenzeka ngenxa isifo senhliziyo noma unhlangothi.

Ubani isengozini?

Ngokuvamile, isifo kwenzeka engxenyeni besilisa sabantu. Werner Syndrome-manifest (izimpawu) emva kokuthomba. Lesi sifo eba ezingeni yamangqamuzana, isakhi sofuzo soguquko lwegciwane singalawuleka, okuyinto unomthwalo ukufaka ikhodi DNA. Ososayensi baye hhayi esiphethweni, ikuphi ukuhlobana okukhona lokhu syndrome nezinye izifo ezifanayo ukuthi umuntu asheshe okusheshayo. Futhi kufana nokuthela amanzi emhlane ekhona.

Nakuba lesi sifo - a rarity, kunabantu abanjalo, futhi umphakathi wanamuhla kufanele sibaphathe abaqotho ngaphezulu, ngoba sonke sibhekana kusukela kule. Abantu ababhekene nalesi sifo, kufanele kanzima kakhulu. Ngaphezu ukubukeka okwesabisayo, kukhona iqoqo izifo ezihlobene ukuthi abavunyelwe nhlobo evamile. Esigabeni sokuqala kuhambisana izinguquko zangaphandle, kanye nazo zonke izinhlangano isifo avuse okwalandela.

Werner sifo ithuthuka ngokushesha ukuze isiguli engu-40 ubudala awokuthi kungathinta umdlavuza, ngoba komdlavuza - into engavamile kuleli isifo.

ukuhlola

Cishe zonke izifo zivamise ukwenzeka lapho isikhulile, ngisho nalapho esegugile, kodwa kuphela uma le akuyona Werner syndrome, ngaphambi kwesikhathi ukuguga syndrome. Ngokuvamile, lapho ukuhlolisisa umnyuziki yezokwelapha in iziguli kwamathambo waphawula izinyawo nemilenze ephansi, kahle isakhiwo nemisipha futhi imisipha. Njengomthetho, isiguli ekhononda ka awaboni kahle, ngoba uma sifo cishe njalo cataract. semfene Abaningi waqaphela umehluko umsebenzi ubuchopho, okuyinto kuhambisana ukwehla ngokushesha amakhono engqondo. Ngokuvamile iziguli zivela izikhalazo zobuhlungu enhliziyweni.

Ukuze lokwenza ukuxilongwa, "Werner Syndrome", liqoke luhlolo umnyuziki emtholampilo. Uma udokotela ophikayo kungaba e isiko ukunquma ikhono fibroblasts nokuzala.

ukwelashwa

Werner Syndrome - inhlupho xxi leminyaka. Ososayensi bazama kanzima ukufunda lesi sifo, isixazululo kule nkinga futhi sisebenza ukulondoloza emphakathini wanamuhla kusukela lolu hlobo anomalies. Singasho sithi into eyodwa kuphela - lokhu ingenye izimo ezingavamile ukukhubazeka kwezakhi zofuzo.

Ngeshwa, naphezu kweqiniso lokuthi imithi kula mashumi eminyaka amuva esenze intuthuko okukhulu ekuthuthukiseni namuhla, ososayensi abakwazi alwe nalo sifo. Ingabe kungenzeka ukwelapha ke? It namanje akwaziwa ukuthi waphelelaphi. Ukuze silondoloze ngezimo zesiguli eyenziwa yokwelapha ekhethekile esiza ukumisa ukuguga ngokushesha futhi kuvimbela izifo zomzimba. Njalo kwenziwe ukuze kuncishiswe nokuvimbela izimpawu okukhona kule isifo. Kodwa kuze kube sekupheleni ukumisa le nqubo, odokotela abakwazi okwamanje.

Ingabe amapulasitiki usizo?

Yiqiniso, ungakwazi ukufuna usizo lodokotela abahlinzayo ezinhle plastic futhi sithuthukise ukubukeka. Kodwa ubudala umuntu Liyindawo okusheshayo, ngakho lolu hlobo usizo kuyoba isikhathi esifushane. Omunye nje ukuba esikhathini esizayo esiseduze abacwaningi ukuthuthukisa ngokuqinisekile ibe nempumelelo futhi kukhona izidakamizwa enikeza nomphumela ofiselekayo. Muva nje, eziningi ithemba athweswe emkhakheni wezokwelapha, okuyinto imatasa ekwelapheni izifo abahlupheka kakhulu usebenzisa ama-stem cell. Singagcina ngokubu- sokukholelwa ukuthi ngokushesha ngosizo le ndlela sizokwazi ukwelapha Verner Johnson syndrome.