Cov kab mob Waardenburg

Waardenburg kev mob sib kis yog ib pab neeg mob los ntawm tsev neeg. Tus mob cuam tshuam nrog cov lag ntseg thiab cov tawv nqaij daj, plaub hau, thiab xim muag.

Cov kab mob Waardenburg feem ntau tau txais los ntawm kev tsim kho qhov tseem ceeb. Qhov no txhais tau hais tias tsuas yog ib leej niam leej txiv yuav tsum tso cov noob keeb kwm mus rau tus me nyuam cuam tshuam.

Muaj plaub yam mob ntawm hom mob Waardenburg. Feem ntau yog hom I thiab hom II.

Hom III (Klein-Waardenburg syndrome) thiab hom IV (Waardenburg-Shah syndrome) yog muaj tsawg.

Qhov ntau hom mob no tshwm sim los ntawm kev tsis xws luag hauv cov noob sib txawv. Cov neeg feem ntau uas muaj tus kab mob no muaj niam txiv nrog tus kab mob, tab sis cov tsos mob hauv niam txiv tuaj yeem sib txawv ntawm cov menyuam.

Cov tsos mob tuaj yeem suav nrog:

• Cleft di ncauj (tsis tshua muaj)
• Cem quav
• Lag ntseg (muaj ntau hom mob II)
• Qhov muag xiav xiav lossis lub qhov muag daj ntau heev uas tsis phim (heterochromia)
• Tawv xim tawv nqaij, plaub hau thiab qhov muag (ib nrab ntawm albinism)
• Nyuaj tshaj plaws ncaj cov pob qij txha
• Ua tau txo qis me me hauv kev txawj ntse
• Dav teeb qhov muag (hom I)
• Dawb thaj ntawm cov plaub hau los yog xeb ntxov ntawm cov plaub hau

Tsawg dua li hom mob no tuaj yeem tsim teeb meem nrog caj npab lossis hnyuv.

Kev ntsuam xyuas yuav muaj xws li:

• Ntawv Ntsuas
• Plab hlaub hla sij hawm
• Nyuv hlav
• Kev tshuaj ntsuam caj ces

Tsis muaj kev kho tshwj xeeb. Cov tsos mob yuav raug kho raws li qhov xav tau. Kev noj zaub mov tshwj xeeb thiab tshuaj noj txhawm rau txhawm rau txhawm rau txhawm rau txhawm rau tshuaj rau cov neeg muaj cem quav. Lub rooj sib hais yuav tsum kuaj xyuas kom zoo.

Thaum hnov ​​cov teeb meem hnov ​​lus tas, cov neeg feem ntau uas muaj tus mob no yuav tsum tuaj yeem coj lub neej zoo. Cov neeg uas muaj cov yam ntxwv tsis haum ntawm tus mob yuav muaj lwm yam teeb meem.

Teeb meem yuav suav nrog:

• Cem quav loj heev uas yuav tsum muaj qee qhov quav loj uas tau tshem tawm
• Hnov tsis hnov ​​lus
• Cov teeb meem tus kheej, lossis lwm yam teeb meem cuam tshuam nrog tsos
• Qis dua kev txawj ntse ua haujlwm (ua tau, txawv txawv)

Kev qhuab ntuas caj ces tej zaum yuav pab tau yog tias koj muaj tsev neeg muaj keeb kwm ntawm Waardenburg syndrome thiab npaj yuav muaj menyuam. Hu koj lub tsev kho mob / kuaj mob yog tias koj lossis koj tus menyuam lag ntseg lossis tsis hnov ​​lus zoo.

Mob Klein-Waardenburg; Waardenburg-Shah syndrome

• Dav nchav ntswg
• Suab hnov

Cipriano SD, Thaj Chaw JJ. Neurocutaneous kab mob. Hauv: Callen JP, Jorizzo JL, Tshav JJ, Piette WW, Rosenbach MA, Vleugels RA, eds. Cov tsos mob ua pov thawj ntawm cov kabmob hnoos qeevCov. Thib 5 ed. Philadelphia, PA: Elsevier; 2017: chap 40.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Kev ua tsis taus ntawm cov metabolism hauv cov amino acids. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 103.

Milunsky JM. Waardenburg syndrome hom I. GeneReviewsCov. 2017. PMID: 20301703 www.ncbi.nlm.nih.gov/pubmed/20301703. Hloov kho Tsib Hlis 4, 2017. Nkag mus Lub Xya Hli 31, 2019.