Waardenburg Syndrome inoratidzirwa nezviratidzo mumarudzi mana
Waardenburg syndrome inonzi genetic disorder inoratidzwa nenzvimbo dzakasiyana-siyana dzeodiginism ( albinism ) yeganda nemvere. Imwe rudzi rweWawardenburg syndrome rinoitawo kuti munhu asave matsi (matsi pakuberekwa). Ichi chirwere chinotendwa kuti chinoverengera 2-3% yezviitiko zvose zvekubata matsi.
Waardenburg syndrome inokanganisa varume nemadzimai uye vanhu vemarudzi ose.
Inofungidzirwa kuti inowanikwa mune 1 yevanhu 42 000.
Zviratidzo neMhando
Waardenburg syndrome yakakamurwa kuva zvina, zvichienderana nezviratidzo. Vanhu vanofunga kuti vane Waardenburg syndrome rudzi rwekutanga 1 kana vane 2 makuru kana 1 makuru pamwe chete 2 zviduku zvishoma kubva pane zvinyorwa pasi apa.
Maitiro makuru:
- Akaberekwa matsi kana kunzwa kunetseka (congenital sensorineural kunzwa kurasikirwa ) (58% yevanhu)
- Sirafi yakaisvonaka maziso ebhuruu kana maziso maviri akasiyana nemavara
- Mucheka wakachena wemvere pahuma
- Nhengo yemhuri yakadaro neWardenarden syndrome
- Kona yekamuri yeziso rakabuda kumativi (dystopia canthorum)
Minor criteria:
- Patikiti dzechiedza kana chichena ganda
- Nyeve dzinowedzera kusvika pakati pechiso
- Nzeve dzisina kunaka
- Kutanga kuvhara bvudzi (nemakore makumi matatu)
Waardenburg syndrome type 2 inotsanangurwa seine zvinhu zvose zvechirongwa 1 asi dystopia canthorum. 77% yevanhu vane rudzi rwechipiri vanonzwa kurasikirwa.
Waardenburg syndrome type 3 , kana Klein-Waardenburg syndrome, yakafanana neyechipiri 1 asi inosanganisira misuli mikonti.
Waardenburg syndrome type 4 , kana Waardenburg-Shah syndrome, yakafananawo neyechirongwa 1 asi inosanganisira Hirschsprung's (chirwere chemuviri).
Kuziva
Vacheche vanoberekwa neWardenarden syndrome vangave nehunhu hwakachena uye ganda rinoshanduka uye kurasikirwa kwekunzwa. Zvisinei, kana zviratidzo izvi zvinyoro, Waardenburg syndrome inogona kuenderera mberi isingawanikwi kusvikira imwe yemhuri ichiongororwa uye yese nhengo dzemhuri dzinoongororwa.
Kuongororwa kwemazuva ose kunogona kushandiswa kugona kurasikirwa kunzwa.
Kurapa
Zviratidzo zvakasiyana zveWaldardenburg syndrome zvinoonekwa nevanhu vakasiyana, kunyange mumhuri imwechete. Vamwe vanhu havadi kutarisirwa apo vamwe vangada kuvhiyiwa kana ziso kana zvimwe zvisina kukodzera. Hapana kudya kwakakosha kana mitambo yebasa inoshandiswa, uye Waardenburg syndrome haiwanzokanganisa pfungwa.
Genetic Counseling
Nemhaka ye nzira iyo Waardenburg syndrome inotora nhaka (autosomal inowanikwa) mumhando 1 ne2, munhu ane hutachiwana ane mukana wekuwana 50 muhutano hwega wega ane mwana akabatwa. Sezvo zviratidzo zvinogona kusiyana, hapana nzira yekufanotaura kana mwana akabatwa angave ane simba kana zviratidzo zvinorema zvakanyanya kupfuura mubereki wake. Nhaka yezvikamu zvitatu ne4 zvakanyanya kuoma, asi mazano ekurapa anogona kubatsira kutarisa njodzi yekupfuura Waardenburg syndrome kune mwana.
> Sources:
> Bason, L. (2002). Waardenburg syndrome. eMedicine.
> Dourmishev AL, Dourmishev LA, Schwartz RA, et al. Waardenburg syndrome. Int J Dermatol 1999; 38: 656.
Yakarongedzwa naRichard N. Fogoros, MD