KaWerner syndrome: inkcazelo kunye neempawu

Inkqubo ukuguga enyanisweni, kunqandwa ukuba wonke umntu, kodwa ngokuthe ngcembe yaye kade, ngoko umntu ixesha aqhelane neenguqulelo ezenzekayo emzimbeni wakhe. Ukuza kuthi ga ngoku, kukho imfihlelo ezintsonkothileyo kwinzululwazi yanamhlanje iye yaba sisifo ibalekisa kakhulu zonke iinkqubo ngokwaluphala emzimbeni - Werner syndrome Morrison.

Esi sifo kunqabile kakhulu, ngoko izazinzulu awukwazi ukufumana indlela eziluncedo unyango. Yinto uhlobo i anomaly eluntwini mihla. Ngokuba lixesha lokuqala ubunyani yokugula kwesi sifo sabhalwa ngowe-1904 yi zezenzululwazi waseJamani. Kude kube ngoku, iingqondo inkulu abantu ozama ukuhlola inkqubo engaqhelekanga, nto leyo ebangela kwesikhumba umzimba womntu, kwaye ikhangela iindlela yokulwa esi sifo.

Kuphi na kwesi sifo?

Ngokubanzi, sifo eso njengelifa. Izigulane ziyazifumana evela kubazali elinye sofuzo engaqhelekanga, nto leyo ukwakweli chromosome wesibhozo. Ngenxa kumke kwezakhi, ngoko ke umntwana uya kuzidla ilifa ezi imizila yemfuza. Utshintsho ziboniswa umsebenzi umzimba uphela, kuquka banele.

Ukususela namhlanje, siye safumanisa kanye oko kaWerner syndrome - yinto autosomal sisifo sofuzo. Kodwa ukubuphikisa uqinisekise le isifo ngokuyincina yemfuza akunakwenzeka.

Iimpawu zesi sifo

Ibonisa umkhuba ezinqabileyo, iimpawu lokuqala lesi sifo kuvela emva kweminyaka elishumi. I ukukhubazeka lokuqala engaziwa strong ukukhula. Kodwa uninzi zonke iimpawu ezicacileyo inokubonwa kuphela kwiminyaka engama-20.

Iingcali bazi inani iimpawu ezingundoqo:

• Xa ixesha olude elifutshane ngexesha umntu ajike engwevu kungekudala ulahlekelwa zonke iinwele zentloko yakhe.
• Isikhumba iqalisa ubudala ngokukhawuleza, kwaye oku kubonisa hyperpigmentation, Undintshwenyisile, kuba luthuthu neyomileyo.

Kunye nale nkqubo ayibuyiseki umva ebantwini kukho isixa esikhulu nezinye izinto ezimbi:

• Yamafutha.
• Esweni.
• Ukuphazamiseka intliziyo.
• Kwamathambo.
• neoplasms ebubonisayo ebulalayo.

KaWerner syndrome kuchaphazela inkqubo yonyango, ngoko umntu abangenawo ngeempawu zesini eziziisekondari: sexesheni lungenzeki, kukho iphezulu kakhulu kwithoni yelizwi, ukuphazamiseka le nobubovu lengqula, ukuphuhlisa seswekile (ukuxhathisa insulin). Konke oku eliqhelekileyo kubantu abo esi sifo soyikekayo.

ukubonakala

Izigulane nesi sifo ukufunda kude, ngenxa yokuba aba bantu zahlukile kakhulu iimpawu zobuso ukusuka njengesiqhelo. Njengomgaqo, zinaso acuteness, impumlo yakhe umlomo kwazisathetha iintaka, kwaye isilevu ingcole amabi, umlomo encinane, ubuso elimbhoxo uba ifomu iceba-ezimile. Kwakhona atrophied ngokupheleleyo adipose inyama kunye kwezihlunu. Ngoko ke, iingalo kunye nemilenze ngokungaqhelekanga ibhityile - konke oku kuchaphazela ukuhamba yesiqhelo. intshukumo Human nzima, uyadinwa lula kwaye abakwazi ukumelana umthambo onzima.

Kukho omnye, iphambili esibonakala yi Werner syndrome. Izithombe zabantu abanengxaki kwesi sifo, ebetha: ukuba iminyaka engama-40 ubudala zikhangeleka ngokuphindwe kabini endala. Iinkcukacha-manani zibonisa ukuba izigulane owayefumene esi sifo, musani Zinokuphila zide zibe neminyaka engama-50. Okanye umzimba luchaphazela umhlaza, okanye ukufa kwenzeka ngenxa yesifo sentliziyo okanye istroke.

Ngubani na isengozini?

Ngokufuthi, esi sifo kwenzeka kwisiqingatha iinkunzi yabemi. Werner Syndrome ibonakale (iimpawu) emva ukufikisa. Isifo nesifo kwinqanaba eziphilayo, iigene mutated, leyo unoxanduva DNA enkhowudingi. Oososayensi yabona ukuba yintoni na ukuzalana esi sifo kunye nezinye izifo ezifanayo ezibangela ukuguga ngokukhawuleza. Bacinga ukuba kube khona.

Nangona esi sifo - lwepaki, kukho abantu abanjalo, kunye noluntu mihla kufuneka kubaphatha abanyanisekileyo ngakumbi, kuba akukho bani sinazo kulo. Abantu abajongene nale sifo, kufuneka nzima kakhulu. Ukongeza inkangeleko eloyikekayo, kukho iseti izifo ezinxulumene ukuba abavumelekanga ukuba ayisekho ngokuqhelekileyo. Isanda lukhatshwa iinguqulelo zangaphandle, kunye nayo yonke imibutho izifo ezenza elandelayo.

Werner syndrome iyakhula ngokukhawuleza ukwenzela ukuba isigulana engama-40 ubudala kunye namathuba eliphezulu zingachaphazela umhlaza, ngokuba ezinezigulo - akuqhelekanga kule sifo.

ekuxilongweni

Phantse zonke izifo ngokuqhelekileyo kwenzeka ebudaleni, yaye kude kuse ebudaleni ikwandim, kodwa kuphela xa oku kungekhona syndrome Werner, ngaphambi ukwaluphala syndrome. Ngokuqhelekileyo, xa axilongwe ngokupheleleyo izigulane kwamathambo ofunda iinyawo kunye emilenzeni, ngokwenzakala ubume nemisipha kunye nemisipha. Njengoko umthetho, isigulana ikhalazela yombono mahlwempu; ngokuba ukuba isifo phantse lonk cataract. Izitenxo waphawula abaninzi kumsebenzi ingqondo, nto leyo sikhatshwa ukuhla olukhawulezayo babenobuchule. Kudla izigulane zivela izikhalazo iintlungu entliziyweni.

Ukuze wenze isifo, "kaWerner Syndrome", amisele zoviwo ezipheleleyo clinical. Ukuba ugqirha uthandabuzayo ngayo kwinkcubeko ukufumanisa isakhono fibroblasts ukuba nokuzala.

unyango

KaWerner syndrome - isibetho lwekhulu xxi. Izazinzulu zizama ukufunda eli sifo, ekhangela ukuba isisombululo kule ngxaki yaye basebenza ukusindisa uluntu namhlanje kule hlobo okungahambi. Sinako ukuthetha into enye kuphela - le yenye Kwiimeko ezingaqhelekanga yeziphene yemfuza.

Ngelishwa, nakubeni iyeza kwiminyaka yakutshanje wenze inkqubela enkulu kuphuhliso namhlanje, izazinzulu abakwazi kulwa nesi sifo. Ngaba kunokwenzeka ukuba aphilise ngayo? Kusahleli ingaziwa. Ukugcina imeko yomguli wathwala kwanonyango eyodwa endincedayo ukuyeka ukuguga ngokukhawuleza kwaye kuthintela isifo omzimba. Rhoqo lwenziwa ukuze kuncitshiswe ukuthintelwa iimpawu akhoyo kule sifo. Kodwa kude kube sekupheleni ukumisa le nkqubo, oogqirha abakwazi okwangoku.

Musa ukunceda iiplastiki?

Kakade ke, unako ufune uncedo a oogqirha bazilungise elungileyo nokuphucula imbonakalo. Kodwa iminyaka umntu aku- fast, ngoko olu hlobo uncedo kuya kuba mfutshane elide. Umntu kuphela kwethemba ukuba kwixa elizayo abaphandi ukuphuhlisa iya kuba nempumelelo kwaye kukho ichiza enika neziphumo ebezifuneka. Kutshanje, a lot of ithemba anikwe kwinkalo amayeza, nto leyo sixakekile ekunyangeni izifo ezininzi lithemba usebenzisa iiseli stem. Sikholelwe kuphela ukuba kungekudala ngoncedo yale ndlela kuya kuba lula ukuba kunyanga Verner Johnson syndrome.