Waardenburg Syndrome e khetholloa ke matšoao ka mefuta e mene
Leardenburg syndrome ke lefu la liphatsa tsa lefutso tse khetholloang ke libaka tse ngata tse bontšang hore li-albinism li na le letlalo le moriri. Mofuta o mong oa lefu la Waardenburg le oona o hlahisa litholo tsa congenital (litsebeng ha a hlaha). Ts'oaetso ena ho lumeloa hore e tlaleha karolo ea 2-3 lekholong ea lisosa tsa congenital.
Lefu la Waardenburg le ama banna le basali le batho ba merabe eohle.
Ho hakanngoa hore ho etsahala ho motho a le mong ho ba 42 000.
Matšoao le Mefuta
Leardenburg syndrome e arotsoe ka mefuta e mene, e thehiloeng matšoao. Batho ba nkoa ba e-na le mofuta oa Waardenburg syndrome 1 haeba ba e-na le tse peli tse kholo kapa tse 1 tse kholo le tse 2 tse fokolang lits'ebetsong tse latelang.
Mekhoa e meholo:
- O ile a tsoaloa a sa utloe litsebeng kapa a sa utloisisehe (congenital sensorineural loss of hearing ) (58% ea batho)
- Mahlo a masoeu a phatsimang mahlo a masoeu kapa mahlo a mabeli a fapaneng
- Ho koaloa ha hlooho moriri phatleng
- Setho sa lelapa le haufi le lefu la Waardenburg
- Kona e ka hare ea leihlo le lahlehileng ka lehlakore (dystopia canthorum)
Mekhoa e fokolang:
- Matlalo a letlalo le khanyang kapa le lesoeu
- Metsu e atamela ka hare ho sefahleho
- Lintho tse sa tloaelehang
- Ho roala pele ho moriri (ka lilemo tse 30)
Mofuta oa 2 oa lefu la Waardenburg o hlalosoa o e-na le likarolo tsohle tsa mofuta oa 1 ntle le dystopia canthorum. Batho ba 77% ba nang le mofuta oa 2 ba na le tahlehelo ea kutlo.
Leardenburg syndrome type 3 , kapa Klein-Waardenburg syndrome, e tšoana le mofuta oa 1 empa o kenyelletsa likonteraka tsa mesifa.
Leardenburg syndrome type 4 , kapa Waardenburg-Shah syndrome, le eona e tšoana le mofuta oa 1 empa e kenyeletsa lefu la Hirschsprung (kankere ea meno).
Tsejoa
Bana ba tsoaloang ke lefu la Waardenburg ba ka 'na ba e-ba le moriri le letlalo le khethollang le ho lahleheloa ke kutlo. Leha ho le joalo, haeba matšoao a le bonolo, lefu la Waardenburg le ka 'na la se ke la fumanoa ho fihlela setho sa lelapa se fumaneha' me litho tsohle tsa lelapa li hlahlojoa.
Liteko tse utloahalang tsa ho utloa li ka sebelisoa ho lemoha tahlehelo ea kutlo.
Phekolo
Matšoao a fapaneng a Maardenald syndrome a hlaha ho batho ba fapaneng, esita le ka hara lelapa le le leng. Batho ba bang ha ba hloke phekolo ha ba bang ba hloka ho buuoa kapa mahlo kapa lintho tse ling tse sa tloaelehang. Ha ho hlokahale lijo tse khethehileng kapa lithibelo tsa mosebetsi, 'me Waardenburg syndrome ha e atisa ho ama mohopolo.
Ho fana ka keletso ea liphatsa tsa lefutso
Ka lebaka la tsela eo Waardenburg syndrome e futsitseng ka eona (li-autosomal e ka sehloohong) mefuteng ea 1 le ea 2, motho ea amehileng o na le menyetla ea 50 lekholong ka leng la bokhachane ba ho ba le ngoana ea amehileng. Kaha matšoao a fapane, ha ho na mokhoa oa ho bolela hore na ngoana ea amehileng o tla ba le matšoao a maholo kapa a matla ho feta motsoali oa hae. Lefa la mefuta ea 3 le ea 4 e rarahaneng, empa tlhabollo ea liphatsa tsa lefutso e ka thusa ho hlahloba kotsi ea ho fetisetsa Waardenburg syndrome ho ngoana.
> Mehloli:
> Bason, L. (2002). Leardenburg syndrome. eMedicine.
> Dourmishev AL, Dourmishev LA, Schwartz RA, et al. Leardenburg syndrome. Int J Dermatol 1999; 38: 656.
E hlophisitsoeng ke Richard N. Fogoros, MD