I-syndrome ye-Waardenburg: izibonakaliso, izimbangela, uhlobo lwefa

Enye yezinhlobo zezifo yi-pathologies yokuzalwa. Ezimweni eziningi, akunakwenzeka ukuzivimbela. Mayelana nemibandela enjalo ibonakala ngemuva kokuzalwa kwengane. Izifo zofuzo zibonakala ngokubonakaliswa okuhlukahlukene. Ezimweni eziningi, lezi zingaphakathi nezitho zangaphandle. Esinye sezifo ezibelethwe yi-syndrome yaseWardenburg. Iqukethe izici zobuntu ezihlukanisa nezinye izifo ezingokwemvelo. Lokhu kufaka phakathi: ukukhubazeka kokuzwa, umbala wehlo ohlukile, ukubukeka okuqondile kweziguli. Ukuhlolisisa lesi sifo kudinga inhlolovo yabachwepheshe abaningana.

Iyini isifo se-Waardenburg?

Lesi sifo asisebenzi ezifweni ezingavamile zofuzo. Ngokwesilinganiso, izifo ze-pathology zingama-1 kuya kwabangu-4 000 amasha. Isifo se-Waardenburg singacatshangwa kakade sisebancane, ngoba ukubonakaliswa kwayo okuyinhloko kubonakala okungakajwayelekile kwezingane nokulahleka kokuzwa. Lesi sifo sachazwa phakathi nekhulu lama-20. Wavula le-ophthalmologist ephuma eFrance eVaardenburg. Wafunda iqembu lezingane ezaziphethe izici ezinjengephrofayili yesiGreki, umbala weso elikhanyayo (kwezinye izimo, ezihlukile) nokuzithulu. Ngaphezu kwalokho, i-syndrome ineminye imibonakaliso eminingi, inhlanganisela yawo ingahluka.

Lesi sifo sitholakele kokubili amantombazane nabafana. Isifo saleso sifo asihlobene nobulili nobuzwe. Ingozi yokuthuthukisa le-pathology ikhuphuka ngokuqinile uma kunezinkinga ezingokwemvelo komunye wamalungu omndeni. Njengamanje, kunezinhlobonhlobo ze-syndrome yeWardenburg. Ukuhlukaniswa kusekelwe ekuguquleni kwezakhi zofuzo.

Izimbangela zokuthuthukiswa kwezifo

Esinye sezifo ezibangelwa ukubeletha yisifo se-Waardenburg. Uhlobo lwefa yalesi sifo sokugula luyi-autosomal ephezulu. Lokhu kubonisa ingozi enkulu yokudlulisa izakhi zofuzo ezingenasici kusuka kubazali ezinganeni. Amathuba okuzuza lesi sifo i-50%. Isizathu sokuthuthukiswa kwalesi sifo sishintshashintsha kwezinye izakhi zofuzo. Omunye wabo unesibopho sokwakhiwa kwama-melanocytes - amangqamuzana e-pigment. Izinguquko zalesi sakhi zidala umbala ongajwayelekile wamehlo ne-heterochromia (umbala ohlukile we-irises).

Ngesinye isikhathi lesi sifo asihlotshaniswa nobudlova obunzima. Ezimweni ezinjalo, umuntu akakwazi ukusho ukuthi kungani ukuguqulwa kwezakhi zofuzo kwenzeka. Kuyaziwa ukuthi kwenzeka ngesikhathi sokuthuthukiswa kwe-intrauterine. Izici zengozi zibandakanya i-pathologies ezithathelwanayo ezenzeka ngesikhathi sokukhulelwa. Futhi, imbangela ingase ibe nemiphumela ecindezelayo, ukudakwa izidakamizwa, imikhuba emibi, njll.

Izinhlobo zesimo sokugula

Kunezinhlobo ezingu-4 zesifo se-Waardenburg. Zihlukaniswa ngokwezihlobo zefa kanye nemvelo yezifo zofuzo. Ngokuvamile, uhlobo lokuqala lwe-pathology lwenzeka. Ibonakala ngokuguqulwa kwesigcawu se-MITF ne-PAX3, esitholakala ku-chromosome yesibili. Uhlobo lwefa luyi-autosomal ephezulu. Iphesenti le-PAX3 libhekene nokukhiqizwa kwesici sokubhalisa, okuyinto elawula ukufuduka kwamaseli we-neural crest.

Uhlobo lwesibili lwe-syndrome ye-Waardenburg lubonakala ngamacala angu-20-25%. Izakhi zofuzo ezisemathunjini zitholakala ku-chromosome 3 no-8. Owokuqala - uhileleke ekubunjweni kwamaseli e-pigment. Okwesibili unesibopho sokubhalisa izici ezenza ukuguqulwa kwamaprotheni.

Uhlobo lwesithathu lwesifo kukhona ukwephula isakhi se-PAX3. Loluhlobo lwe-pathology luhlukaniswa nobukhulu bokugeleza. Ngokungafani nohlobo lokuqala, i-genetic mutation ayikho i-hetero-, kodwa e-homozygous state. Ngezinye izikhathi kunezinguquko ezingenangqondo.

Uhlobo lwesine lwesifo lubhekene nefa lokuziqhenya ngokuzenzakalelayo. Ingozi yokudluliswa kwempilo ingama-25%. Isakhi sofuzo esisendaweni sendawo sitholakala endaweni ye-chromosome 13. Kuhileleke ekubunjweni kweprotheni ye-B-endothelin.

Isifo se-Waardenburg: izimpawu zesifo

Kukhona izindlela ezinkulu nezincane zokwelapha. Okokuqala kutholakala ezimweni eziningi. Lokhu kufaka:

1. I-Heterochromy. Abantu abanezinhlobonhlobo zamehlo ahlukahlukene bakha cishe u-1% wabantu bonke bomhlaba. I-Heterochromia ayihlotshaniswa njalo nesifo se-pathological syndrome.
2. Ukusethelwa kwe-angle yangaphakathi yangaphakathi. Lesi simo sibizwa ngokuthi "ithelevishini".
3. Umbala okhanyayo okwesibhakabhaka we-iris.
4. Ukuba nekhasi lezinwele ezimpunga.
5. Ibhuloho elibanzi lekhala.
6. Ukukhubazeka okuzwakalayo ukuzwa, kwezinye izimo - ukuzwa isithulu.
7. Ukulingana okuncane kwesigaba esiphakathi skull yebuso.
8. Inhlanganisela yalezi zimpawu ngesifo sikaHirschsprung. Lesi sifo sibhekene nokuphulwa kokungenwa kwamathambo emathunjini.

Izimpawu ezincane zingabandakanya izimpawu ezihlukahlukene. Phakathi kwabo: izinkontileka zomunwe, ikholomu yomgogodlo ehlukanisa, syndactyly, izinguquko zesikhumba (ukuba khona kwenani elikhulu lama-moles, i-leukodermia). Ngokuvamile kukhona i-hypoplasia yamaphiko emphunga futhi yehla emagcekeni amakhulu. Lokhu kulungiselelwa ubuso kubhekwa ngokuthi "iphrofayela yeGreki". Ezinye iziguli zinokukhubazeka okunjengokuthi "umlomo wempuphu" noma "hare hare".

Ukuxilongwa kwe-anomaly yokuzalwa

Abantu abanezinhlobonhlobo zamehlo ahlukene abavamile, kepha lesi sibonakaliso asibonisi ngaso sonke isikhathi isifo sofuzo. Uma isibonakaliso esinjalo sihlanganiswa nesithulu nezici zobuntu bokubukeka, khona-ke kungenzeka ukuba khona kwesifo se-Waardenburg. Ukuze kuqinisekiswe ukuxilongwa, ukubonisana kochwepheshe kuyadingeka. I-otolaryngologist yokuhlolwa edingekayo, i-ophthalmologist, i-dermatologist. Kubalulekile ukuthola i-anamnesis yefa. Ukuhlola i-genetic kwenziwa ukuze kuqinisekiswe ukuthi kutholakala yini. Ngemuva kwalo, kunqunywe ukuthi kune-syndrome yeWardenburg. Izinga lobuhlakani ezigulini livamile. Lokhu kuhluke lesi sifo kusuka kwezinye izifo eziningi ezithatha izifo.

Ukwelashwa kwesifo se-Waardenburg

Njengazinye izifo ze-chromosomal, akukho ukwelashwa kwe-etiotropic yesifo se-Waardenburg. Izenzo odokotela zihloswe ekuqedeni izimpawu ze-pathology. Ukutshalaliswa kwamapayipi ama- cochlear kwenziwa ukuvimbela isithulu. Uma le-pathology ihlanganiswa nesifo sikaHirschsprung, ukuhlinzwa emathunjini kuyadingeka. Kwezinye izimo, i-physiotherapy inqunywe. Ngezinye izikhathi ukuhlinzwa kweplastiki ebusweni.

Ukuvimbela i-genetic syndrome

Kungenzeka ukuthi i-syndrome yeWardenarden izokhula emntwaneni onesifo sesinye sabazali sikhulu kakhulu. Ngakho-ke, ngesikhathi sokukhulelwa, i-genetic test of the fetus yenziwa. Kudingekile uma kwenzeka u-heredity obunzima.

Uma isifo esinjalo ngezihlobo sasingakapheli, vimbela ukuthuthukiswa kwezifo akunakwenzeka. Ukuvikela ukuphazamiseka kwezakhi zofuzo, kunconywa ukuthi ugweme ukucindezeleka nezinye izici ezinomphumela we-teratogenic. Isibikezelo sokuphila kulesi sifo sihle.