Waardenburg syndrome: iimpawu, ebangela, uhlobo selifa

Enye amaqela izifo ukungaqheleki bekhubazekile. Kwiimeko ezininzi, akunakwenzeka ukuba ukuzithintela. Malunga ezi States baqaphela emva kokuzalwa komntwana. izifo Genetic luphawulwa ekubonakalisweni ezahlukeneyo. Kwiimeko ezininzi, oko iziphene amalungu angaphakathi kunye okungahambi bangaphandle. Enye ukungaqheleki iziphene yi Waardenburg syndrome. It has iimpawu iimpawu ezahlula kwezinye abaneziphene. Ezi ziquka: ilahleko ngeendlebe, amehlo ngombala owahlukileyo, imbonakalo ethile zezigulane. It lufuna uviwo ziingcali ezininzi uxilongo kwesi sifo.

Yintoni Waardenburg syndrome?

Isifo ayilo zofuzo ezinqabileyo. Isehlakalo sifo ingu-1 ngo-4000 kubelekwa. Waardenburg syndrome kurhanelwa esemncinane, njengoko obubonakala yakhe ephambili ecacileyo engaqhelekanga imbonakalo kweentsana ukulahleka ukuva. Isifo wachazwa phakathi kwenkulungwane yamashumi amabini. Ndafumanisa le ngezifo zamehlo yemfuza ukusuka France Waardenburg. Wafunda iqela labantwana abathe waphawula iimpawu ezifana profile yamaGrike, eqaqambileyo iliso umbala (kwezinye iimeko - ezahlukeneyo) kunye zizithulu. Ukongeza, syndrome ukwanazo nezinye izinto ezininzi, ukuhlanganiswa apho ziyahluka.

Esi sifo olufunyanwa amantombazana namakhwenkwe. Iziganeko esi sifo ayikho enxulumene nesini kunye nobuhlanga. Umngcipheko wokuhlaselwa esi sifo kwandisa zawo kukho ezingaqhelekanga, yemfuza kwi umntu kumalungu osapho. Okwangoku, kukho iintlobo ezininzi Waardenburg syndrome. Isiseko utshintsho yemfuza wabeka yokuhlela.

Izinto ezibangela Uphuhliso izifo

Sesinye sezifo iziphene ngokwentelekiso lwafunyanwa kutshanje ingqalelo Waardenburg syndrome. uhlobo ilifa ithi zophendlo lwezifo - autosomal lubalaseleyo. Oku kuthetha emngciphekweni omkhulu ukudluliselwa yemfuza ezingasebenzi kubazali abantwana. Ithuba njengelifa sifo-50%. Isizathu sokuba uphuhliso sifo zithathwa ukuba babe yemfuza sofuzo ezithile. Enye yazo inoxanduva ukuyilwa melanocytes - iiseli ebala. Imizila yale gene banoxanduva i umbala iliso engaqhelekanga kunye getehromiyu (irises bala ezahlukeneyo).

Ngamanye amaxesha sifo sinxulumana ngembali yosapho. Kwiimeko ezinjalo, akunakwenzeka ukuba kuthi, ngenxa yezizathu ezithile, naluphi na uhlengahlengiso yemfuza. Baye baziwa ukuba kwenzeka Esibelekweni. Imiba yomngcipheko zibandakanya izifo ezosulelayo ezivela ngexesha lokukhulelwa. Kwakhona, isizathu isenokuba uxinezeleko nefuthe, ukunxila okanye iziyobisi, imikhwa emibi njalo njalo. D.

Imihlobo isimo yezifo

Ukwahlula iintlobo 4 Waardenburg syndrome. Bona zahlelwa ngokodidi kunye nohlobo ilifa ukuphazamiseka yemfuza. uhlobo lokuqala lwesifo lwenzeka amaninzi. Lubonakala yi kuguquka MITF kunye Pax3 gene, ibekwe kule chromosome yesibini. Uhlobo lilifa - autosomal lubalaseleyo. Pax3 sofuzo wemveliso ye noshicilelo factor, nto leyo elawula yokufuduka iiseli Crest seli zemithambo-luvo.

Uhlobo lwesibini Waardenburg syndrome uyaqapheleka 20-25% yamatyala. zofuzo yezifo izinze chromosome 3 no-8. Lokuqala - obandakanyeka ekubunjweni iiseli ebala. Second - onoxanduva ikhowudi imiba isebenze Ngokukhutshelwa iiprothini.

Uhlobo lwesithathu izifo isakhi ukuphazamiseka Pax3. Olu hlobo lwesifo abawa ezahlukeneyo. Mu kuya kwa nshita uhlobo lokuqala, iigene mutated ayikho hetero- kunye homozygous. Ngamanye amaxesha oku kwaphawula kuguquka ububhanxa.

Uhlobo lwesine sifo luphawulwa ilifa autosomal sofuzo. Ingozi yokosulela sifo-25%. Isakhi elinesiphene ibekwe chromosome 13. Ibandakanya ekubunjweni kwiproteni endothelin-B.

Waardenburg syndrome: iimpawu

Ukwahlula criteria ngezifo ezinkulu nezincinane. Okokuqala eyafunyanwa isininzi amatyala. Ezi ziquka:

1. Heterochromia. Abantu abane umbala ngeliso ezahlukileyo, malunga ne-1% yabantu kwihlabathi lilonke. Heterochromia abasoloko ezinxulumene syndromes zophendlo lwezifo.
2. Ukubana iso lembombo embilwini. Loo into ibizwa ngokuba "telekant".
3. umbala oqaqambileyo oluhlaza iris.
4. Ubukho ngesihlwitha nengwevu.
5. ibhulorho ebanzi ngeempumlo.
6. Luvakaliswe ilahleko ukuva kwezinye iimeko - yokungeva ngeendlebe.
7. zesi encinane inxalenye phakathi ukakayi yobuso.
8. Indibaniselwano yezi mpawu kunye nesifo Hirschsprung kaThixo. Le ngezifo luphawulwa kummandla othile innervation emathunjini.

Engongoma oluncinane neendidi iimpawu. Phakathi kwabo contractures umnwe, ukuqhekeka kumhlathi spinal, syndactyly, utshintsho ulusu (phambi inani elikhulu abamenzelayo leucoderma). Kudla ephawulwe hypoplasia bamaphiko empumlweni kunye nokwehlisa kwebunzi. nazo Loo uqwalaselo obizwa ngokuba "iprofayile zamaGrike." Ezinye izigulane isici njenge "inkalakahla zicandeke" okanye "iindevu lips".

Uxilongo mgceni bekhubazekile

Abantu abane umbala ngeliso ezahlukeneyo zinqabile, kodwa le uphawu alusoloko kubonisa isifo yemfuza. Ukuba kukhombisa kudityaniswe ukuva ilahleko kunye neempawu uphawu ukuba ingaphandle, ubukho Waardenburg syndrome kusenokwenzeka. Ukuze uqinisekise uxilongo, ufuna ingcebiso zeengcali. otolaryngologist olugunyazisiweyo kuhlolwa, zamehlo, wesikhumba. Kubalulekile ukufumana phandle i imbali yosapho. Ukuze uqinisekise uxilongo kwenziwa kuphando lwemfuzo. Emva kokuba imisiwe xa kukho Waardenburg syndrome. inqanaba ingqondo kwizigulane - eqhelekileyo. Oku kwahlukile ngaphezu sifo kwezinye izifo ezininzi njengelifa.

Waardenburg Syndrome Treatment

Njengoko kunye nezinye izifo chromosomal etiotrop unyango Waardenburg syndrome ayikho. Iintshukumo oogqirha ezijolise yokunqanda iimpawu sifo. Kwenziwa ukuthintela ukungeva umzila ka cochlear nezixhobo. Ukuba pathology kudityaniswe sisifo Hirschsprung kaThixo, kufuneka ungenelelo zoqhaqho kwi emathunjini. Kwezinye iimeko, ukumisela ukuyifundisa. Ngamanye amaxesha kukho uqhaqho zeplastiki ebusweni bakhe.

Uthintelo yofuzo syndrome

Amathuba ukuba Waardenburg syndrome iqalisa umntwana isifo omnye wabazali phezulu kakhulu. Ngoko, ngexesha lokukhulelwa benza uvavanyo genetic olungekazalwa. Kuyimfuneko kwimeko wembali yosapho.

Ukuba le sifo emizalwaneni zange wathi, asikwazi iyaluthintela uphuhliso sifo. Kuba ekuthinteleni izifo yemfuza bayacetyiswa ukuba xiphephana kunye nezinye izinto ezinempembelelo yaManzi naMahlathi. I-ALS ukuphila kule meko intle.