Ingabe ingane yakho encane inalesi simo esingavamile? Ake sixoxe nge-Kabuki Syndrome

Wake wezwa nge-Kabuki Syndrome? Mhlawumbe akunjalo. Ngoba kuyisimo esingavamile sofuzo. Kodwa kubalulekile ukuqaphela, ikakhulukazi uma ungumzali. Kalula nje, lesi simo singathinta izingxenye eziningi ezahlukene zomzimba wengane yakho. Ngokuvamile, laba bantwana banezimpawu zobuso ezihlukile, izinguquko ezincane ohlelweni lwabo lwamathambo, ukubambezeleka okuthile ekuthuthukisweni kwengqondo, kanye nezinkinga zokukhula ngemva kokuzalwa. Kodwa akuwona wonke umntwana onalezi zimpawu, futhi ubukhali besimo bungahluka kuye ngomuntu nomuntu. Ake sixoxe ngalokhu ngemininingwane ethe xaxa, akunjalo?

Igama elithi "Kabuki" lavela kanjani?

Lena futhi indaba ethakazelisayo kakhulu. Ngo-1981, ososayensi ababili baseJapan bathola lesi simo okokuqala esibizwa ngokuthi i-Kabuki Syndrome. Omunye wabo wasiqamba ngokuthi "i-Kabuki Makeup Syndrome". Isizathu salokhu ukuthi izici zobuso zezingane eziningi ezinalesi simo zifana nokwakheka kwabadlali emidlalweni yeshashalazi ethi "Kabuki", ubuciko beshashalazi bendabuko baseJapan. Cabanga nje, indlela abadlali abagqoka ngayo izinkophe zabo kanye nesimo samehlo abo kufana nezici zobuso zalaba bantwana. Kodwa kamuva, ososayensi basusa igama elithi "makeup" baqala ukusebenzisa igama elithi "Kabuki Syndrome". Ngezinye izikhathi ungase uzwe lesi simo esibizwa ngokuthi 'isifo sikaKabuki', 'i-KMS' noma 'i-Niikawa-Kuroki syndrome'.

Ziyini izimpawu ze-Kabuki syndrome?

Nakuba i-Kabuki syndrome iyisimo sokuzalwa, ingane yakho ingase ingakhombisi izimpawu lapho izalwa. Ngezinye izikhathi kungathatha iminyaka eminingana ukuthi izimpawu zivele. Kubalulekile futhi ukukhumbula ukuthi izimpawu ingane yakho ebhekana nazo kanye nobunzima bazo kungahlukahluka kuye ngomuntu nomuntu.

I-Kabuki syndrome ingathinta izitho nezinhlelo ezahlukahlukene emzimbeni wengane. Ake sibheke izimpawu ezivame kakhulu:

Izici zobuso ezithile

Lena yinto yokuqala abantu abaningi abayibonayo.

• Izinkophe ziyagoba zibheke phezulu futhi zihlukaniswe kabanzi. Kungase kube nokulahlekelwa izinwele esicongweni sezinkophe.
• Izimbobo eziphakathi kwamehlo (imifantu ye-palpebral) ziba zinde ngendlela engavamile.
• Iphuzu lekhala liba yisicaba.
• Ama-earlobes angaba makhulu futhi abe njengendebe.

Izinguquko ohlelweni lwamathambo

Ezinye izinguquko zingabonakala nasemathanjeni omzimba.

• Ukukhubazeka komgogodla (njenge-scoliosis).
• Umunwe opinki ungagoba. Lokhu kubizwa ngokuthi yi-clinodactyly ngokwezokwelapha.
• Iminwe nezinzwane zingaba mfushane (ngokuvamile zi-brachydactyly).

Izici ezihlobene nesimiso sezinzwa

Ungabona futhi ezinye izinto ezihlobene nobuchopho kanye nesimiso sezinzwa.

• Ukukhubazeka kwengqondo okuncane noma okuphakathi.
• Ukuquleka kwesifo sokuwa.
• Ukulibaziseka kwenkulumo.
• Ubuthakathaka bemisipha (lokhu kubizwa ngokuthi "i-hypotonia"). Lokhu kusho ukuthi umzimba uzizwa ubuthakathaka kancane.

Izinkinga zokukhula kanye nokugaya ukudla

Lokhu kungathinta ukukhula kwengane kanye nemikhuba yokudla.

• Ukuphakama nesisindo kungase kube okuvamile ekuzalweni, kodwa ezinye izinkinga zokukhula zingase zivele cishe ezinyangeni ezingu-12 ubudala.
• Usayizi wekhanda ungase ube mncane kunowesilinganiso.
• Kungase kube nobunzima bokudla nokugwinya.
• Kukhona ingozi yokukhuluphala ngokweqile uma usemusha nalapho usukhulile.

Okubalulekile: Isibonakaliso esisodwa noma ezimbili zalezi akusho ukuthi ingane ine-Kabuki syndrome. Kubalulekile ukufuna iseluleko sezokwelapha ukuze uthole ukuxilongwa okunembile.

Ezinye izitho nezinhlelo ezingase zithinteke

Ngaphezu kwalezi zimpawu eziyinhloko, i-Kabuki syndrome ingabangela ezinye izinkinga ezahlukahlukene.

• Isifo senhliziyo esizalwa naso (isifo senhliziyo esiba khona lapho kuzalwa).
• Izinkinga zesisu (isib. ukuqunjelwa, ukuvuvukala kwesisu noma ukudla okuphuma emphinjeni).
• Izinkinga zezinso kanye nesistimu yokuzala.
• Umlomo oqhekekile kanye/noma ulwanga.
• Amajwabu amehlo athambile noma athambile.
• Ukuba nezikhala ezinkulu phakathi kwamazinyo.
• Ingozi eyengeziwe yokutheleleka njalo noma izifo ezibangelwa amasosha omzimba.
• Ukukhubazeka kokuzwa.
• Ukuthomba ngaphambi kwesikhathi.

Yini ebangela i-Kabuki syndrome?

Kulungile, manje ake sibheke imbangela eyinhloko yalesi simo. I-Kabuki syndrome ibangelwa ukuhlukahluka (uhlobo) kwelinye lamajini amabili.

Ezimweni eziningi, cishe ama-75%, kubangelwa ukuguquka kwezakhi zofuzo okubizwa ngokuthi `KMT2D` (ezaziwa ngokuthi `MLL2`). Lokhu kubizwa ngokuthi i-Kabuki syndrome uhlobo 1.

Amanye ama-3% kuya ku-5% abangelwa ukuguquka kwezakhi zofuzo i-KDM6A. Lokhu kubizwa ngokuthi i-Kabuki syndrome uhlobo 2.

Kalula nje, la ma-gene amabili atshela amangqamuzana ethu ukuthi enze ama-enzyme akhethekile. La ma-enzyme aguqula amaprotheni abizwa ngokuthi ama-histone. La ma-histone anamathela ku-DNA yethu futhi anike ama-chromosome ethu isimo sawo. Ngakho-ke, ngokushintsha la ma-histone, lawo ma-enzyme angalawula ukusebenza kwama-gene ethu. La ma-enzyme abaluleke kakhulu ekukhuleni kwengane.

Ngakho-ke, uma kukhona ushintsho ku-gene ye-`KMT2D` noma ku-gene ye-`KDM6A`, lawa ma-enzyme awakhiqizwa. Ngemuva kwalokho, ngenxa yokuthi umzimba awunawo la ma-enzyme, ama-gene awasebenzi kahle. Leso yisona sizathu sezimpawu kanye nokukhubazeka kokukhula okubonakala ku-Kabuki syndrome.

Kodwa-ke, ngezinye izikhathi i-Kabuki syndrome iyatholakala kodwa akukho zinguquko ezitholakala kuzo zombili izakhi zofuzo. Ezimweni ezinjalo, ochwepheshe basakwazi ukuthola imbangela eqondile yalesi simo.

Odokotela bakubona kanjani lokhu?

Uma ucabanga ukuthi ingane yakho inalezi zimpawu, into yokuqala okufanele uyenze ukubona udokotela. Udokotela uzokubuza ngomlando wezokwelapha wengane yakho futhi ahlole ingane yakho. Uzobheka noma yiziphi izici ezithile zobuso, ukukhubazeka kwamathambo, noma ukukhubazeka kwezinzwa okuhlobene ne-Kabuki syndrome. Uzobuza nangomlando wezokwelapha womndeni wengane (umndeni wemvelo).

Ukuhlolwa kokuxilonga

Ukuqinisekisa ukuxilongwa, udokotela uzoyala ukuhlolwa kwezakhi zofuzo. Lokhu kuhilela ukuthatha isampula yegazi lengane nokubheka izinguquko ezakhini zofuzo ezibangela i-Kabuki syndrome.

Njengoba ngishilo ngaphambili, ezinye izingane ezine-Kabuki syndrome kungenzeka zingabi noshintsho kunoma yiliphi lala ma-gene. Ezimweni ezinjalo, udokotela angenza ezinye izivivinyo zegazi noma izifundo ze-chromosome ukuze anqume ezinye izimo.

Yiziphi izindlela zokwelapha i-Kabuki syndrome?

Lokhu kungase kuzwakale kudabukisa kancane, kodwa akukho ukwelashwa kwe-Kabuki syndrome. Kodwa-ke, kunezindlela zokwelapha. Umgomo oyinhloko walezi zindlela zokwelapha ukulawula izimpawu ezithile zengane yakho nokunciphisa ingozi yezinkinga. Ake sibheke ukuthi yiziphi lezi zindlela zokwelapha:

• Ukungenelela kwasekuqaleni: Ukudlulisela ingane ezinkonzweni zokusekela kanye nezinhlelo zemfundo ekhethekile isencane kusiza ekuthuthukisweni kwayo kwengqondo.
• Ukwelashwa kokuhlanganiswa kwezinzwa: Lokhu kuhilela ukuveza ingane emisebenzini ehlukahlukene yezinzwa nokuyisiza ukuthi ilawule indlela esabela ngayo ezishukumisweni.
• Izindlela zokwelapha ezahlukahlukene:
• Ukwelashwa ngokomzimba kungaqinisa imisipha yengane.
• Ukwelashwa emsebenzini kungasiza ekuthuthukiseni amakhono okunyakaza kahle, njengokunyakaza okuncane okwenziwa ngeminwe.
• Ukwelapha ngenkulumo kungasiza ekuthuthukiseni amakhono okukhuluma nolimi.
• Ukudla okujiyile kanye/noma ukufakwa kwepayipi le-gastrostomy: Uma ingane yakho inenkinga yokudla, udokotela wakho angase asikisele lezi zinketho.
• Ukwelashwa kwe-hormone yokukhula eyengeziwe: Izingane ezinesifo sokuntuleka kwe-hormone yokukhula kanye nokukhula okufushane zingazuza kulokhu kwelashwa.
• Izinsiza-kuzwa noma amapayipi okulinganisa umfutho: Uma unenkinga yokuzwa, la madivayisi angasiza.
• Imithi: Imithi ingasetshenziswa ukulawula izimpawu ezifana nokuquleka, ukuvuvukala kwesisu, kanye ne-ADHD (isifo sokungabi namandla okugxila).
• Ukuhlinzwa:Kunezikhathi lapho kudingeka khona ukuhlinzwa ezintweni ezifana ne-scoliosis, isifo senhliziyo, kanye nomlomo oqhekekile kanye nolwanga.

Ukwelashwa okuqondile ingane yakho ekutholayo kuzoncika ezingxenyeni zomzimba wayo ezithintekile kanye nezimpawu zayo. Kungase kudingeke futhi ukuthi ibone ochwepheshe abahlukahlukene (isib., udokotela wenhliziyo, udokotela wezinzwa, udokotela wamazinyo, udokotela we-endocrinologist, udokotela wezifo zamathumbu, udokotela wezifo zamasosha omzimba, udokotela wamehlo, noma udokotela wezifo zomchamo).

Izivivinyo zemitholampilo kanye nolunye ucwaningo ziyaqhubeka okwamanje ukuthola ikhambi lembangela eyinhloko ye-Kabuki syndrome.

Uma ingane yami ine-Kabuki syndrome, ngingayisiza kanjani?

Kuvamile ukuzizwa ushaqekile futhi wesaba uma ufunda into efana nale. Kodwa awuwedwa. Into ebaluleke kakhulu ongayenza ukufunda okuningi ngangokunokwenzeka ngalesi simo. Sebenzisana nodokotela wengane yakho ukuthola ukuthi yini ongayenza ukuze unikeze ingane yakho ukunakekelwa okungcono kakhulu. Kungasiza kakhulu futhi ukujoyina amaqembu okusekela emindenini yezingane ezinezifo ezingavamile. Lapho ungabelana ngolwazi nabanye abazali, ubuze imibuzo, futhi uthole induduzo.

Ingakanani iminyaka yokuphila komuntu one-Kabuki syndrome?

Ukubikezela kanye nobude bokuphila komuntu onesifo i-Kabuki kuncike ebunzimeni besimo sakhe. Nakuba lesi sifo singathinta izingxenye eziningi zomzimba, akunjalo ngaso sonke isikhathi. Ukwelapha izimpawu ezithile zengane nokuvimbela izinkinga kubalulekile ekuthuthukiseni ikusasa layo.

Abantu abadala abanalesi simo bangaphila isikhathi esijwayelekile sokuphila. Bangenza imisebenzi yansuku zonke futhi basebenze imisebenzi yesikhashana. Kodwa-ke, bavame ukudinga ukunakekelwa okusekelwayo. Ngenxa yokuthi lesi simo asivamile, akukaze kube nocwaningo oluningi mayelana nobude bokuphila kwabantu abane-Kabuki syndrome. Ngakho-ke, kungcono ukubuza udokotela wengane yakho mayelana nobude bokuphila kwabo ngokusekelwe esimweni sabo esithile.

Okokugcina, izinto okufanele uzikhumbule

Kungaba yinto esabekayo ukuthola ukuthi ingane yakho inesimo sofuzo. Kodwa-ke, izimpawu, ukwelashwa, kanye nokubikezelwa kwe-Kabuki syndrome kuyahlukahluka kakhulu kumuntu nomuntu. Khuluma nodokotela wengane yakho ukuze ufunde kabanzi ngesimo esithile sengane yakho. Angakusiza kulolu hambo. Amaqembu okusekela emindenini ethintwe yizimo zofuzo ezingavamile nawo angaba umthombo omkhulu wamandla. Angaphendula imibuzo yakho futhi akunike ithemba ngesimo sengane yakho. Ungalokothi uzizwe unesizungu. Unganqikazi ukuthola usizo oludingayo.

'I-Kabuki Syndrome, Izifo Zofuzo, Izifo Zabantwana, Izici Zobuso, Izinkinga Zokukhula, Intuthuko Yobuhlakani, I-Kabuki Syndrome, Izifo Ezingavamile