Makhalidwe a Williams-Beuren Syndrome

Zamkati

• Zinthu zazikulu
• Momwe matendawa amapangidwira
• Kodi chithandizo

Williams-Beuren syndrome ndimatenda achilendo osadziwika ndipo mawonekedwe ake akulu ndi ochezeka, okonda kucheza ndi anzawo komanso olumikizana nawo, ngakhale amakhala ndi mtima, kulumikizana, kulimbitsa thupi, kuchepa kwamaganizidwe komanso mavuto amisala.

Matendawa amakhudza kupanga elastin, zomwe zimapangitsa kuti mitsempha ya m'mimba, mapapo, matumbo ndi khungu zitheke.

Ana omwe ali ndi vutoli amayamba kulankhula ali ndi miyezi pafupifupi 18, koma amamasuka pakuphunzira ndakatulo ndi nyimbo ndipo amakhala ndi chidwi chodziwa nyimbo komanso kukumbukira bwino. Nthawi zambiri amawonetsa mantha akamva kuwomba m'manja, blender, ndege, ndi zina zambiri, chifukwa samamva phokoso, vuto lotchedwa hyperacusis.

Zinthu zazikulu

Mu matendawa, kuchotsedwa kwa majini angapo kumatha kuchitika, chifukwa chake mawonekedwe a munthu m'modzi amatha kukhala osiyana kwambiri ndi wina. Komabe, pakati pazotheka zomwe zingakhalepo:

• Kutupa mozungulira maso
• Mphuno yaying'ono, yowongoka
• Chibwano chaching'ono
• Khungu lofewa
• Iris yodzaza ndi anthu omwe ali ndi maso abuluu
• Kutalika kwakanthawi kochepa pakubadwa ndi kuchepera kwa 1 mpaka 2 cm kutalika pachaka
• Tsitsi lopotana
• Milomo yanyama
• Chisangalalo cha nyimbo, kuyimba ndi zida zoimbira
• Kudyetsa zovuta
• Kupweteka m'mimba
• Kusokonezeka kwa tulo
• Matenda amtima obadwa nawo
• Matenda oopsa
• Matenda opatsirana khutu
• Strabismus
• Mano ang'onoang'ono patali kwambiri
• Kumwetulira pafupipafupi, kulumikizana mosavuta
• Olumala ena, kuyambira pang'ono mpaka pang'ono
• Kuchepetsa chidwi ndi kusakhudzidwa
• Pazaka za sukulu pamakhala zovuta pakuwerenga, kuyankhula ndi masamu,

Zimakhala zachilendo kuti anthu omwe ali ndi vutoli azikhala ndi mavuto azaumoyo monga kuthamanga kwa magazi, otitis, matenda amkodzo, kulephera kwa impso, endocarditis, mavuto amano, komanso scoliosis komanso mgwirizano wamalumikizidwe, makamaka mukatha msinkhu.

Kukonza magalimoto kumachedwa pang'ono, kumatenga nthawi kuyenda, ndipo zimawavuta kuchita ntchito zomwe zimafunikira kulumikizana ndi magalimoto, monga kudula mapepala, kujambula, kukwera njinga kapena kumangirira nsapato.

Mukadzakula, matenda amisala monga kukhumudwa, zizolowezi zambiri, mantha, mantha komanso kupsinjika mtima pambuyo pake.

Momwe matendawa amapangidwira

Dotolo apeza kuti mwanayo ali ndi matenda a Williams-Beuren pakuwona mawonekedwe ake, kutsimikiziridwa kudzera pakuyesedwa kwa majini, womwe ndi mtundu wa kuyezetsa magazi, wotchedwa fluorescent in situ hybridization (FISH).

Kuyesa ngati ultrasound ya impso, kuyesa kuthamanga kwa magazi ndikukhala ndi echocardiogram kungathandizenso. Kuphatikiza apo, kashiamu wambiri m'magazi, kuthamanga kwa magazi, mafupa otayirira komanso mawonekedwe amtundu wa iris, ngati diso lili labuluu.

Zina mwazinthu zomwe zingathandize pakuzindikira matendawa ndikuti mwana kapena wamkulu sakonda kusintha mawonekedwe kulikonse komwe ali, sakonda mchenga, kapena masitepe kapena malo osagwirizana.

Kodi chithandizo

Matenda a Williams-Beuren alibe mankhwala ndiye chifukwa chake kuli koyenera kutsagana ndi katswiri wa zamankhwala, physiotherapist, wothandizira kulankhula, komanso kuphunzitsa pasukulu yapadera ndikofunikira chifukwa chakuchepa kwamaganizidwe komwe mwanayo amakhala nako. Katswiri wa ana amathanso kuyitanitsa kuyezetsa magazi pafupipafupi kuti awone kuchuluka kwa calcium ndi vitamini D, yomwe nthawi zambiri imakwezedwa.