Zvimiro zveWilliam-Beuren Syndrome

Zvemukati

• Main maficha
• Maitiro ekuongororwa kunoitwa
• Kwakadii kurapwa

Williams-Beuren syndrome chirwere chisingawanzoitika uye hunhu hwayo hwakanyanya hushamwari, hunhu-hunhu uye hunhu hwekutaurirana hwemwana, kunyangwe ichipa moyo, kurongeka, kuenzanisa, kudzora pfungwa uye matambudziko epfungwa.

Iyi syndrome inokanganisa kugadzirwa kweelastin, inokanganisa kusimba kwemitsipa yeropa, mapapu, ura uye ganda.

Vana vane chirwere ichi vanotanga kutaura pamwedzi gumi nesere, asi vanoratidza kurerukirwa mukufunda nhetembo nenziyo uye, mune zvese, kugona kukuru kwemumhanzi uye ndangariro yakanaka yekunzwika. Vanowanzo kuratidza kutya pavanonzwa kuombera, blender, ndege, nezvimwewo, nekuti vane hypersensitive kurira, mamiriro anonzi hyperacusis.

Main maficha

Mune iyi syndrome, kubviswa kwakawanda kwemajini kunogona kuitika, uye nekudaro hunhu hwemumwe munhu hunogona kunge hwakasiyana zvakanyanya nehweumwe. Zvisinei, pakati pezvinogona kuitika zvinogona kuvapo:

• Kuzvimba kutenderedza maziso
• Mudiki, mhuno yakatwasuka
• Chidiki chidiki
• Ganda rakapfava
• Nyeredzi iris mune vanhu vane maziso ebhuruu
• Pfupi kureba pakuzvarwa uye kushomeka kweinosvika 1 kusvika 2 cm pakureba pagore
• Bvudzi rakamonana
• Miromo yenyama
• Kunakidzwa kwemimhanzi, kuimba uye zviridzwa
• Kudyisa kunetseka
• Ura hwemukati
• Kukanganiswa kwekurara
• Congenital chirwere chemoyo
• Arterial neBP
• Dzokororo nzeve hutachiona
• Strabismus
• Mazino madiki akareba kure kure
• Kakawanda kunyemwerera, kurerukirwa kwekutaurirana
• Kumwe kuremara kwepfungwa, kubva pakunyoro kusvika pakuenzanisa
• Kucherechedzwa kwekushomeka uye kusagadzikana
• Pazera rechikoro pane kuoma mukuverenga, kutaura uye masvomhu,

Zvakajairika kuti vanhu vane chirwere ichi vave nezvinetso zvehutano zvakadai sekukwira kweropa, otitis, kutapukirwa neweti, itsvo kutadza, endocarditis, matambudziko emazino, pamwe ne scoliosis uye chibvumirano chemajoini, kunyanya panguva yekuyaruka.

Kukwidziridzwa kwemota kunononoka, kutora nguva kufamba, uye vane chinetso chakakura mukuita mabasa anoda kufambisa mota, sekucheka bepa, kudhirowa, kuchovha bhasikoro kana kusunga shangu.

Paunenge uri munhu mukuru, chirwere chepfungwa chakadai sekushungurudzika, zviratidzo zvekumanikidza, phobias, kuvhunduka kwekutya uye kushushikana kwepashure kwekushungurudzika kunogona kumuka.

Maitiro ekuongororwa kunoitwa

Chiremba vanoona kuti mwana ane Williams-Beuren syndrome kana achiona hunhu hwayo, ichisimbiswa kuburikidza neyakaedzwa bvunzo, iri mhando yeropa, inonzi fluorescent in situ hybridization (FISH).

Kuyedza senge Ultrasound yeitsvo, kuongorora BP uye kuva neEquardcardiogram kunogona kubatsira. Uye zvakare, yakakwira mwero wecalcium muropa, yakakwira BP, majoini akasununguka uye nyeredzi chimiro cheiyo iris, kana iro ziso riri rebhuruu.

Zvimwe zvakasarudzika zvinogona kubatsira mukuongororwa kwechirwere ichi ndezvekuti mwana kana munhu mukuru haafarire kuchinja hunyoro chero kwavari, havadi jecha, kana masitepisi kana nzvimbo dzisina kuenzana.

Kwakadii kurapwa

Williams-Beuren syndrome haina mushonga uye ndosaka zvichikosha kuti uperekedzwe nachiremba wezvemwoyo, physiotherapist, Therapist Therapist, uye kudzidzisa muchikoro chakakosha kunodiwa nekuda kwekudzikisira kwepfungwa kune mwana. Chiremba wevana anogona zvakare kuraira kuongororwa kweropa kazhinji kuti aongorore huwandu hwecalcium uye vhitamini D, ayo anowanzo kukwidziridzwa.