Ib pawg ntawm cov kab mob yog congenital pathologies. Feem ntau, nws tsis tuaj yeem tiv thaiv lawv. Cov xwm txheej zoo li no tau paub tom qab yug menyuam. Cov kab mob caj ces yog tus cwj pwm los ntawm ntau yam tshwm sim. Feem ntau, cov no yog cov tsis xws luag ntawm lub cev thiab sab nraud anomalies. Ib qho ntawm cov pathologies congenital yog Waardenburg syndrome. Nws muaj cov yam ntxwv tshwj xeeb uas paub qhov txawv ntawm lwm cov caj ces tsis xws luag. Cov no suav nrog: tsis hnov lus, txawv qhov muag xim, tshwj xeeb ntawm cov neeg mob. Txhawm rau kuaj tus kab mob no, yuav tsum kuaj xyuas los ntawm ntau tus kws tshaj lij.
Waardenburg syndrome yog dab tsi?
Tus kab mob no tsis yog ib yam kab mob tsawg. Qhov nruab nrab, qhov tshwm sim ntawm pathology yog 1 ntawm 4000 tus menyuam yug tshiab. Waardenburg Syndrome tuaj yeem raug xav tias yog thaum muaj hnub nyoog ntxov, txij li nws cov tsos mob tseem ceeb yog pom qhov txawv txav ntawm tus menyuam thiab hnov lus tsis zoo. Tus kab mob tau piav qhia nyob rau hauv nruab nrab ntawm lub xyoo pua nees nkaum. Qhov no genetic pathology tau tshawb pom los ntawm tus kws kho mob ophthalmologist los ntawm Fabkis Waardenburg. Nws tau kawm ib pawg menyuam yaus uas tau nthuav tawm cov yam ntxwv xws li Greek profile, lub qhov muag ci xim (ntau zaus), thiab lag ntseg. Tsis tas li ntawd, tus mob no muaj ntau yam kev tshwm sim, kev sib xyaw ua ke uas yuav txawv.
Tus kab mob no kuaj tau ntawm ob tus ntxhais thiab tub. Qhov zaus ntawm qhov tshwm sim ntawm tus kab mob no tsis cuam tshuam txog poj niam txiv neej thiab haiv neeg. Qhov kev pheej hmoo ntawm kev tsim cov kab mob no ua rau muaj kev pheej hmoo ntawm kev muaj kab mob caj ces hauv ib tus neeg hauv tsev neeg. Tam sim no, muaj ntau ntau yam ntawm Waardenburg syndrome. Kev faib tawm yog raws li kev hloov pauv caj ces.
Ua rau kev loj hlob ntawm pathology
Ib qho ntawm cov kab mob tsis ntev los no tau tshawb pom yog Waardenburg's syndrome. Hom kab mob ntawm cov kab mob pathological no yog autosomal dominant. Qhov no txhais tau tias muaj kev pheej hmoo siab dhau ntawm cov noob tsis zoo los ntawm niam txiv mus rau cov menyuam. Qhov tshwm sim ntawm kev kis tus kab mob yog 50%. Kev hloov pauv hauv qee cov noob tau suav tias yog qhov ua rau muaj tus kabmob. Ib tug ntawm lawv yog lub luag hauj lwm rau tsim ntawm melanocytes - pigment hlwb. Kev hloov pauv hauv cov noob no ua rau lub qhov muag txawv txawv thiab heterochromia (xim txawv ntawm irises).
Qee lub sij hawm tus kab mob no tsis cuam tshuam nrog kev sib kis hnyav. Hauv cov xwm txheej zoo li no, nws tsis tuaj yeem hais tias yog vim li cas qhov kev hloov pauv caj ces tshwm sim. Nws paub tias lawv tshwm sim thaum lub sij hawm kev loj hlob ntawm fetal. Yam uas txaus ntshai muaj xws li kis kab mobpathologies tshwm sim thaum cev xeeb tub. Nws kuj tuaj yeem tshwm sim los ntawm kev ntxhov siab, kev quav yeeb tshuaj, cwj pwm tsis zoo, thiab lwm yam.
Ntau yam ntawm cov kab mob pathological
Muaj 4 yam ntawm Waardenburg syndrome. Lawv raug cais raws li hom kev ua qub txeeg qub teg thiab qhov xwm txheej ntawm caj ces. Thawj hom ntawm pathology yog feem ntau. Nws yog tus cwj pwm los ntawm kev hloov pauv ntawm MITF thiab PAX3 noob nyob rau ntawm ob chromosome. Hom kev qub txeeg qub teg yog autosomal dominant. Lub PAX3 noob yog lub luag haujlwm rau kev tsim cov khoom hloov pauv, uas nyob rau hauv lem tswj kev tsiv teb tsaws ntawm neural crest cells.
Hom thib ob ntawm Waardenburg syndrome tshwm sim hauv 20-25% ntawm cov neeg mob. Pathological noob nyob rau ntawm chromosomes 3 thiab 8. Thawj yog koom nrog hauv kev tsim cov pigment hlwb. Qhov thib ob yog lub luag haujlwm rau encoding yam uas ua kom muaj protein ntau transcription.
Nyob hauv hom kab mob thib peb, muaj kev ua txhaum ntawm PAX3 noob. Hom kab mob no yog tus cwj pwm los ntawm qhov hnyav ntawm chav kawm. Tsis zoo li thawj hom, cov noob hloov pauv tsis yog nyob rau hauv hetero-, tab sis nyob rau hauv lub xeev homozygous. Qee zaum kev hloov pauv tsis tseem ceeb tau sau tseg.
Hom plaub ntawm tus kab mob yog tus cwj pwm los ntawm autosomal recessive qub txeeg qub teg. Kev pheej hmoo ntawm kev kis kab mob pathology yog 25%. Cov noob tsis raug yog nyob ntawm chromosome 13. Nws koom nrog hauv kev tsim cov B-endothelin protein.
Waardenburg syndrome: cov tsos mob ntawm tus kab mob
Muaj cov txheej txheem loj thiab me me. Cov qub tau pom nyob rau hauv feem ntau. Cov no suav nrog:
- Heterochromia. Cov neeg uas muaj xim txawv qhov muag muaj txog li 1% ntawm tag nrho cov pejxeem ntawm lub ntiaj teb. Heterochromia tsis yog ib txwm cuam tshuam nrog pathological syndrome.
- Kev tawm ntawm lub qhov muag sab hauv. Qhov tshwm sim no hu ua "TV".
- Zoo xiav xim ntawm iris.
- Ntxhais plaub hau daj.
- Broad qhov ntswg.
- tsis hnov lus hnyav, qee kis lag ntseg.
- me me ntawm qhov nruab nrab ntawm lub ntsej muag pob txha taub hau.
- Kev sib xyaw ntawm cov tsos mob no nrog Hirschsprung tus kab mob. Qhov no pathology yog tus yam ntxwv los ntawm kev ua txhaum ntawm lub innervation ntawm txoj hnyuv cheeb tsam.
Cov qauv me me tuaj yeem suav nrog ntau yam tsos mob. Ntawm lawv: contractures ntawm cov ntiv tes, splitting ntawm tus txha caj qaum, syndactyly, daim tawv nqaij hloov (muaj coob tus moles, leukoderma). Feem ntau muaj hypoplasia ntawm tis ntawm lub qhov ntswg thiab ib tug txo nyob rau hauv lub superciliary arches. Lub ntsej muag configuration no yog hu ua "Greek profile". Qee tus neeg mob muaj qhov tsis xws luag xws li cleft palate lossis cleft di ncauj.
Kev kuaj mob tsis pom kev hauv lub cev
Cov neeg uas muaj xim txawv qhov muag tsis tshua muaj, tab sis cov tsos mob no tsis yog ib txwm qhia txog caj ces kab mob. Yog tias qhov cim zoo sib xws tau ua ke nrog kev hnov lus tsis hnov lus thiab cov yam ntxwv ntawm cov tsos mob, ces qhov tshwm sim ntawm Waardenburg Syndrome yuav muaj. Txhawm rau kom paub meej qhov kev kuaj mob, kev sab laj ntawm cov kws kho mob tshwj xeeb yog xav tau. Obligatory kuaj los ntawm otolaryngologist, ophthalmologist, dermatologist. Tseem ceebnrhiav keeb kwm keeb kwm. Kev kuaj caj ces yog ua kom paub tseeb tias qhov kev kuaj mob. Tom qab nws, nws yog tsim los seb puas muaj Waardenburg syndrome. Qib ntawm kev txawj ntse hauv cov neeg mob yog qhov qub. Qhov no distinguishes tus kab mob no los ntawm ntau lwm yam hereditary pathologies.
Kev Kho Mob ntawm Waardenburg syndrome
Raws li lwm yam kab mob chromosomal, tsis muaj kev kho etiotropic rau Waardenburg syndrome. Cov kev ua ntawm cov kws kho mob yog tsom rau kev tshem tawm cov tsos mob ntawm pathology. Txhawm rau tiv thaiv kev lag ntseg, ib qho cuab yeej cochlear yog cog. Yog tias cov kab mob sib xyaw ua ke nrog Hirschsprung tus kab mob, yuav tsum muaj kev phais mob ntawm txoj hnyuv. Qee qhov xwm txheej, physiotherapy yog muab. Qee zaum kev phais lub ntsej muag tau ua tiav.
Tiv thaiv kab mob caj ces
Qhov yuav tshwm sim uas Waardenburg syndrome yuav loj hlob hauv tus menyuam uas muaj tus kabmob ntawm ib tus niam txiv muaj siab heev. Yog li ntawd, thaum cev xeeb tub, kev tshawb nrhiav caj ces ntawm tus menyuam hauv plab yog ua tiav. Nws yog qhov tsim nyog nyob rau hauv cov ntaub ntawv ntawm lub nra hnyav.
Yog tias tsis pom tus kab mob zoo li no hauv cov txheeb ze, nws tsis tuaj yeem tiv thaiv kev txhim kho ntawm pathology. Txhawm rau tiv thaiv kev mob caj ces, nws raug nquahu kom tsis txhob muaj kev ntxhov siab thiab lwm yam uas muaj cov nyhuv teratogenic. Qhov kev cia siab rau lub neej nrog cov kab mob no yog qhov zoo.
