I-Waardenburg Syndrome Izimpawu nezinhlobo

I-Waardenburg Syndrome ihlukaniswa izimpawu zibe yizinhlobo ezine

I-Waardenburg syndrome yisifo esiyinkinga yezofuzo ezivezwe ezindaweni eziqhamukayo ze- albinism zesikhumba nezinwele. Uhlobo oluthile lwe-Waardenburg syndrome luveza futhi isithulu sokuzalwa (izithulu ekuzalweni). Le ngxabano ikholelwa ukuthi i-2-3% yazo zonke izigameko zesisindo sokubeletha.

I-Waardenburg syndrome ithinta kokubili abesilisa nabesifazane nabantu bazo zonke izinhlanga.

Kucatshangwa ukuthi kwenzeka ku-1 kwabangu-42,000 abantu.

Izimpawu nezinhlobo

I-Waardenburg syndrome ihlukaniswe yaba izinhlobo ezine, ngokusekelwe ezimpawu. Abantu bacatshangwa ukuthi bane- Waardenburg syndrome uhlobo 1 uma banezinhloko ezingu-2 eziyinhloko noma ezingu-1 ezinkulu kanye nezincane ezimbili ezivela kuhlu olungezansi.

Izindlela ezinkulu:

Indlela encane:

I-Waardenburg syndrome uhlobo 2 ichazwa njengokuba nazo zonke izici zohlobo 1 ngaphandle kwe-dystopia canthorum. Abantu abangamaphesenti angama-77 abantu abanoluhlobo 2 banokulahlekelwa kokuzwa.

U-Waardenburg syndrome uhlobo lwe-3 , noma i-Klein-Waardenburg syndrome, ifana nohlobo lwe-1 kodwa luhlanganisa izivumelwano zomzimba.

I-Waardenburg syndrome hlobo 4 , noma i-Waardenburg-Shah syndrome, nayo ifana nohlobo lwe-1 kodwa ihlanganisa nesifo se-Hirschsprung (isifo senzosi emathunjini).

Ukuxilongwa

Izingane ezizalwa nge-Waardenburg syndrome zingaba nezinwele nezikhwama eziguquka nokulahlekelwa ukuzwa. Kodwa-ke, uma izimpawu zincane, i-Waardenburg syndrome ingase ingatholakali kuze kube yilapho ilungu lomndeni litholakala futhi wonke amalungu omndeni ahlolwe.

Izivivinyo zokulalela ezijwayelekile zingasetshenziswa ukuthola ukulahlekelwa kokuzwa.

Ukwelapha

Izimpawu ezehlukene zeWaveardenburg syndrome zivela kubantu abahlukene, ngisho nasemndenini ofanayo. Abanye abantu ngeke badinge ukwelashwa kanti abanye bangase badinge ukuhlinzwa noma iso noma ezinye izinto ezingavamile. Akukho ukudla okukhethekile noma imikhawulo yomsebenzi okudingekayo, futhi i-Waardenburg syndrome ayithinti ingqondo.

Ukululekwa nge-Genetic

Ngenxa yokuthi i-Waardenburg syndrome izuze njengefa (i-autosomal ephezulu) ezinhlotsheni ezingu-1 no-2, umuntu okhuthele unethuba elingama-50% ekukhuleleni ngamunye kokuba nengane ethintekile. Njengoba izimpawu zingashintsha, ayikho indlela yokubikezela ukuthi ngabe ingane ethintekile izoba nezimpawu ezinzima noma ezinzima kunomzali wakhe. Ifa lezinhlobo ze-3 ne-4 liyinkimbinkimbi, kodwa ukwelulekwa kwezakhi zofuzo kungasiza ekuhloleni ingozi yokudlula i-Waardenburg syndrome enganeni.

> Imithombo:

> Bason, L. (2002). I-Waardenburg syndrome. eMedicine.

> Dourmishev AL, Dourmishev LA, Schwartz RA, et al. I-Waardenburg syndrome. Int J Dermatol 1999; 38: 656.

Ehlelwe nguRichard N. Fogoros, MD