I-Rubinstein-taybi Syndrome: Izimbangela, Izimpawu Nezokwelapha

-Delile

• Lesi sifo sikhiqiza ukuguqulwa ngokomzimba nangokwengqondo ezinganeni ezisanda kuzalwa.
• Yini i-Rubinstein-Taybi syndrome?
• Izimpawu ezixhunyaniswe nezinguquko ze-anatomical
• Izinkinga zokukhubazeka kwengqondo kanye nentuthuko
• Isifo esivela kofuzo
• Ukwelashwa kuyasetshenziswa

Lesi sifo sikhiqiza ukuguqulwa ngokomzimba nangokwengqondo ezinganeni ezisanda kuzalwa.

Ngesikhathi sokukhula kombungu, izakhi zethu zofuzo zisebenza ngendlela yokuthi zi-ode ukukhula nokwakheka kwezinhlaka nezinhlelo ezahlukahlukene ezizolungisa isidalwa esisha.

Ezimweni eziningi, lokhu kuthuthuka kwenzeka ngendlela ejwayelekile ngokusebenzisa imininingwane yezofuzo evela kubazali, kepha kwesinye isikhathi ukuguquka kwezakhi zofuzo kwenzeka kuzakhi zofuzo ezidala ukuguquka ekukhuleni. Lokhu kuphakamisa ama-syndromes ahlukene, njenge Isifo sikaRubinstein-Taybi, lapho sizobona khona imininingwane engezansi.

Yini i-Rubinstein-Taybi syndrome?

Isifo seRubinstein-Taybi is kubhekwe njengesifo esingajwayelekile semvelaphi yezakhi zofuzo lokho kwenzeka cishe kokukodwa ekuzalweni kwezinkulungwane eziyikhulu. Kubonakala ngokuba khona kokukhubazeka kwengqondo, ukuqina kwezithupha zezandla nezinyawo, ukukhula kancane, ukukhula okufushane, i-microcephaly, nokushintsha okuhlukahlukene kobuso nokwakheka komzimba, izici ezibhekwa ngezansi.

Ngakho-ke, lesi sifo siveza kokubili ukwakheka komzimba (ukukhubazeka) nezimpawu zengqondo. Ake sibheke ukuthi ziyini nokuthi bunzima kangakanani.

Izimpawu ezixhunyaniswe nezinguquko ze-anatomical

Ezingeni le-morphology yobuso, akuyona into engavamile ukuthola amehlo ahlukaniswe kabanzi noma i-hypertelorism, amajwabu amehlo ahlanganisiwe, ulwanga olukhombe, i-hypoplastic maxilla (ukuntuleka kokukhula kwamathambo omhlathi ongaphezulu) nezinye izinkinga. Ngokuphathelene nosayizi, njengoba sishilo phambilini, kuvame kakhulu ukuthi kufushane kakhulu, kanye nezinga elithile lokulibaziseka kokuvuthwa kwe-microcephaly kanye nokuvuthwa kwamathambo. Esinye sezici ezibonakala kalula nezimele zalesi sifo sibonwa ezandleni nasezinyaweni, ngezithupha ezibanzi kunokujwayelekile kanye nama-phalanges amafushane.

Cishe ikota labantu abanalesi sifo bavame ukuhlushwa ukukhubazeka kwenhliziyo abazalwa nakho, okumele ibhekwe ngokuqapha okukhethekile ngoba ingaholela ekufeni kwengane. Cishe uhhafu walabo abathintekile banezinkinga zezinso, nezinye izinkinga ohlelweni lwezitho zofuzo nazo zivamile (njengesibeletho esiyibhidi emantombazaneni noma ukungazaleli kowodwa noma kuwo womabili amasende kubafana).

Ukungajwayelekile okuyingozi zitholakele emkhakheni wokuphefumula, emathunjini, nezitho ezihlobene nokudla okuholela ezinkingeni zokondla nokuphefumula. Izifo zivamile. Izinkinga ezibonakalayo njenge-strabismus noma i-glaucoma zivamile, kanye ne-otitis. Ngokuvamile abanaso isifiso sokudla phakathi neminyaka yokuqala futhi kungadingeka ukusetshenziswa kwamashubhu, kepha njengoba bekhula bavame ukuhlupheka ngenxa yokukhuluphala kwengane. Ezingeni lezinzwa, ukuquleka kwesinye isikhathi kungabonwa, futhi kunengozi enkulu yokuhlushwa yimidlavuza ehlukene.

Izinkinga zokukhubazeka kwengqondo kanye nentuthuko

Izinguquko ezikhiqizwe yi-Rubinstein-Taybi syndrome futhi kuthinta uhlelo lwezinzwa nenqubo yokuthuthuka. Ukukhula okumile kanye ne-microcephaly kusiza lokhu.

Abantu abanalesi sifo imvamisa sinokukhubazeka kwengqondo okulingene, ene-IQ ephakathi kuka-30 no-70. Leli banga lokukhubazeka lingabavumela ukuthi bathole ikhono lokukhuluma nokufunda, kepha ngokuvamile abakwazi ukulandela imfundo ejwayelekile futhi badinga imfundo ekhethekile.

Izinyathelo ezahlukahlukene zentuthuko nazo ukwethula ukubambezeleka okukhulu, ukuqala ukuhamba sekwephuzile nokuveza imininingwane ethile nasesigabeni sokukhasa. Ngokuphathelene nokukhuluma, ezinye zazo azilihlakuleli leli khono (lapho kufanele zifundiswe ulimi lwezandla). Kulabo abakwenzayo, ulwazimagama kuvame ukukhawulwa, kepha kungakhuthazwa futhi kuthuthukiswe ngemfundo.

Ukuguquguquka kwemizwelo okungazelelwe nokuphazamiseka kokuziphatha kungenzeka, ikakhulukazi kubantu abadala.

Isifo esivela kofuzo

Izimbangela zalesi sifo zivela kofuzo. Ngokuqondile, amacala atholakele axhunyaniswe ikakhulukazi nokuba khona kwe- ukususwa noma ukulahleka kwesiqeshana sohlobo lwe-CREBBP ku-chromosome 16. Kwezinye izimo, ukuguqulwa kohlobo lwe-EP300 kutholakele ku-chromosome 22.

Ezimweni eziningi, lesi sifo sivela ngezikhathi ezithile, okusho ukuthi, yize sinemvelaphi yofuzo, akusona isifo esizuzwe njengefa, kepha kunalokho ukuvela kwezakhi zofuzo kuvela ngesikhathi sokukhula kombungu. Noma kunjalo, Kutholakale namacala okufa, ngendlela evelele ye-autosomal.

Ukwelashwa kuyasetshenziswa

Isifo iRubinstein-Taybi syndrome yisifo sofuzo esingelashwa. Ukwelashwa kugxile ekwehliseni izimpawu, ukulungisa okungahambi kahle kwe-anatomical ngokuhlinzwa, nokwenza ngcono amakhono abo ngokombono wemikhakha ehlukahlukene.

Ezingeni lokuhlinzwa, kungenzeka ukuthi kulungiswe inhliziyo, ocular nesandla nezinyawo ukukhubazeka. Ukuvuselelwa kanye ne-physiotherapy, kanye nokwelashwa kokukhuluma kanye nezindlela zokwelapha ezahlukahlukene nezindlela ezingasekela ukutholwa nokwenza kahle kwamakhono wezimoto nolimi.

Okokugcina, ukwesekwa ngokwengqondo nasekutholakaleni kwamakhono ayisisekelo empilo yansuku zonke kubalulekile ezimweni eziningi. Kuyadingeka futhi ukusebenzisana nemindeni ukuyinikeza ukwesekwa nokuholwa.

Isikhathi sokuphila salabo abathintekile yilesi sifo singaba esejwayelekile njengoba inqobo nje uma izinkinga ezitholakala ekuguqulweni kwazo kwe-anatomical, ikakhulukazi ezinhliziyo, zigcinwa zilawulwa.