Ingaba umntwana wakho omncinci unale meko ingaqhelekanga? Masithethe ngeKabuki Syndrome

Ngaba wakha weva ngeKabuki Syndrome? Mhlawumbi akunjalo. Kuba yimeko engaqhelekanga yemfuza. Kodwa kubalulekile ukuyiqonda, ingakumbi ukuba ungumzali. Ngamafutshane, le meko inokuchaphazela iindawo ezininzi ezahlukeneyo zomzimba womntwana wakho. Rhoqo, aba bantwana baneempawu zobuso ezahlukileyo, utshintsho oluncinci kwinkqubo yabo yamathambo, ukulibaziseka kophuhliso lwengqondo, kunye neengxaki zokukhula emva kokuzalwa. Kodwa ayinguye wonke umntwana onale mpawu, kwaye ubunzima bemeko bunokwahluka kumntu nomntu. Makhe sithethe ngale nto ngeenkcukacha ezithe vetshe, akunjalo?

Igama elithi "Kabuki" lavela njani?

Eli libali elinomdla kakhulu. Ngo-1981, izazinzulu ezimbini zaseJapan zafumanisa okokuqala le meko ibizwa ngokuba yiKabuki Syndrome. Omnye wazo wayibiza ngokuba yi "Kabuki Makeup Syndrome". Isizathu soku kukuba iimpawu zobuso zabantwana abaninzi abanale meko zifana neempawu zabadlali kwimidlalo yeqonga ethi "Kabuki", ubugcisa bemidlalo yeqonga yaseJapan. Khawuthelekelele, indlela abadlali abanxiba ngayo iinkophe zabo kunye nemilo yamehlo abo ifana neempawu zobuso zaba bantwana. Kodwa kamva, izazinzulu zalisusa igama elithi "makeup" zaza zaqala ukusebenzisa igama elithi "Kabuki Syndrome". Ngamanye amaxesha ungaliva eli gama libizwa ngokuba yi "Kabuki disease", "KMS" okanye "Niikawa-Kuroki syndrome".

Zithini iimpawu ze-Kabuki syndrome?

Nangona i-Kabuki syndrome yimeko yokuzalwa, umntwana wakho usenokungabonakalisi zimpawu xa ezalwa. Ngamanye amaxesha kungathatha iminyaka eliqela ukuba iimpawu zibonakale. Kubalulekile ukukhumbula ukuba iimpawu umntwana wakho azifumanayo kunye nobunzima bazo zinokwahluka kumntu nomntu.

I-Kabuki syndrome inokuchaphazela amalungu kunye neenkqubo ezahlukeneyo emzimbeni womntwana. Makhe sijonge ezona mpawu zixhaphakileyo:

Iimpawu ezithile zobuso

Le yinto yokuqala abantu abaninzi abayibonayo.

• Iinkophe ziyagoba zibheke phezulu kwaye zibanzi. Kusenokubakho ukulahleka kweenwele kwincam yeenkophe.
• Imingxuma ephakathi kwamehlo (iimfanta zepalpebral) iba mide ngendlela engaqhelekanga.
• Incam yempumlo iba tyaba.
• Iindlebe zinokuba nkulu kwaye zibe ngathi zinde.

Utshintsho kwinkqubo yamathambo

Ezinye iinguqu zinokubonwa nasemathanjeni omzimba.

• Ukuphazamiseka komgogodla (okufana ne-scoliosis).
• Umnwe opinki unokugotywa. Oku kubizwa ngokuba yi-clinodactyly ngokwezonyango.
• Iminwe neenzwane zinokuba mfutshane (nge-brachydactyly).

Iimpawu ezinxulumene nenkqubo ye-nervous

Ungabona nezinye izinto ezinxulumene nengqondo kunye nenkqubo yemithambo-luvo.

• Ukukhubazeka kwengqondo okuncinci okanye okuphakathi.
• Ukuxhuzula okubangelwa kukuxhuzula.
• Ukulibaziseka kokuthetha.
• Ubuthathaka bemisipha (oku kubizwa ngokuba yi-"hypotonia"). Oku kuthetha ukuba umzimba uziva utyhafile kancinci.

Iingxaki zokukhula kunye nesisu

Oku kunokuchaphazela ukukhula komntwana kunye nendlela atya ngayo.

• Ukuphakama nobunzima bunokuba yinto eqhelekileyo xa umntwana ezalwa, kodwa ezinye iingxaki zokukhula zinokuvela xa umntwana eneminyaka eli-12 ubudala.
• Ubungakanani bentloko bunokuba buncinci kunomndilili.
• Kusenokuba nzima ukutya nokuginya.
• Kukho umngcipheko wokuba utyebe kakhulu xa usemncinci naxa sele umdala.

Kubalulekile: Impawu enye okanye ezimbini kwezi azithethi ukuba umntwana unesifo sikaKabuki. Kubalulekile ukufuna iingcebiso zonyango ukuze ufumane ukuxilongwa ngokuchanekileyo.

Amanye amalungu omzimba kunye neenkqubo ezinokuchaphazeleka

Ukongeza kwezi mpawu ziphambili, i-Kabuki syndrome inokubangela ezinye iingxaki ezahlukeneyo.

• Isifo sentliziyo esizalwa naso (isifo sentliziyo esibakho xa umntu ezalwa).
• Iingxaki zesisu (umz. ukuqhina, ukuvuvukala kwesisu okanye ukutya okuphuma emqaleni).
• Iingxaki zezintso kunye nenkqubo yokuzala.
• Umlomo oqhekekileyo kunye/okanye inkalakahla.
• Iinkophe ezigobileyo okanye ezigobileyo.
• Ukuba nezikhewu ezinkulu phakathi kwamazinyo.
• Umngcipheko okhulayo wokosuleleka rhoqo okanye izifo ezibangelwa kukuzikhusela komzimba.
• Ukuphazamiseka kokuva.
• Ukufikisa ngaphambi kwexesha.

Yintoni ebangela i-Kabuki syndrome?

Kulungile, ngoku makhe sijonge unobangela oyintloko wale meko. I-Kabuki syndrome ibangelwa kukwahluka (utshintsho) kwenye yezakhi zofuzo ezimbini.

Kwiimeko ezininzi, malunga ne-75%, ibangelwa kukuguquka kwejini ebizwa ngokuba yi-`KMT2D` (eyayisakwaziwa ngokuba yi-`MLL2`). Oku kubizwa ngokuba yi-Kabuki syndrome type 1.

Ezinye ii-3% ukuya kwi-5% zibangelwa kukuguquka kwe-gene KDM6A. Oku kubizwa ngokuba yi-Kabuki syndrome type 2.

Ngamafutshane, ezi jini zimbini zixelela iiseli zethu ukuba zenze ii-enzymes ezikhethekileyo. Ezi enzymes ziguqula iiproteni ezibizwa ngokuba zii-histones. Ezi histones zinamathela kwi-DNA yethu kwaye zinike ii-chromosomes zethu imilo yazo. Ngoko ke, ngokuguqula ezi histones, ezo enzymes zinokulawula umsebenzi wejini zethu. Ezi enzymes zibaluleke kakhulu ekukhuleni komntwana.

Ngoko ke, xa kukho utshintsho kwijini ye-`KMT2D` okanye kwijini ye-`KDM6A`, ezi enzymes aziveliswa. Emva koko, ngenxa yokuba umzimba ungenazo ezi enzymes, iijini azisebenzi kakuhle. Yiyo loo nto kukho iimpawu kunye nokuphazamiseka kophuhliso okubonwa kwi-Kabuki syndrome.

Nangona kunjalo, ngamanye amaxesha i-Kabuki syndrome iyafunyaniswa kodwa akukho tshintsho lufumanekayo kuzo zombini iijini. Kwiimeko ezinjalo, iingcali azikwazi ukubona unobangela ochanekileyo wale meko.

Oogqirha bayibona njani le nto?

Ukuba ucinga ukuba umntwana wakho unezi mpawu, into yokuqala omele uyenze kukubona ugqirha. Ugqirha uza kukubuza ngembali yezonyango yomntwana wakho aze ahlole umntwana wakho. Uza kukhangela naziphi na iimpawu ezithile zobuso, iingxaki zamathambo, okanye iingxaki zemithambo-luvo ezinxulumene ne-Kabuki syndrome. Uza kubuza nangembali yezonyango yosapho lomntwana (usapho lwebhayoloji).

Uvavanyo lokuxilonga

Ukuqinisekisa ukuxilongwa, ugqirha uza kuyalela uvavanyo lwemfuza. Oku kuquka ukuthatha isampulu yegazi lomntwana nokukhangela utshintsho kwiimfuza ezibangela isifo sikaKabuki.

Njengoko benditshilo ngaphambili, abanye abantwana abane-Kabuki syndrome basenokungabi natshintsho kwi-genes nganye kwezi. Kwiimeko ezinjalo, ugqirha unokwenza olunye uvavanyo lwegazi okanye uphando lwe-chromosome ukuze aqinisekise ukuba akukho ezinye izifo.

Ziziphi iindlela zonyango lwe-Kabuki syndrome?

Oku kunokuvakala kubuhlungu kancinci, kodwa akukho nyango lwe-Kabuki syndrome. Nangona kunjalo, kukho unyango. Injongo ephambili yale nyango kukulawula iimpawu ezithile zomntwana wakho kunye nokunciphisa umngcipheko weengxaki. Makhe sijonge ukuba zeziphi ezi ndlela zonyango:

• Ukungenelela kwangethuba: Ukuthumela umntwana kwiinkonzo zenkxaso neenkqubo zemfundo ekhethekileyo esemncinci kunceda ekuphuhliseni ingqondo yakhe.
• Unyango lokudibanisa iimvakalelo: Oku kuquka ukuveza umntwana kwimisebenzi eyahlukeneyo yeemvakalelo nokubanceda balawule indlela abasabela ngayo kwizinto ezikhuthazayo.
• Iindlela ezahlukeneyo zonyango:
• Unyango lomzimba lunokuqinisa izihlunu zomntwana.
• Unyango lomsebenzi lunokunceda ekuphuhliseni izakhono zomzimba ezintle, ezifana neentshukumo ezincinci ezenziwa ngeminwe.
• Unyango lokuthetha lunokunceda ekuphuhliseni izakhono zokuthetha nezolwimi.
• Ukutya okujiyileyo kunye/okanye ukufakwa kwetyhubhu ye-gastrostomy: Ukuba umntwana wakho unengxaki yokutya, ugqirha wakho unokucebisa ezi ndlela.
• Unyango olongezelelweyo lwehomoni yokukhula: Abantwana abanengxaki yokukhula kunye nokungabikho kwehomoni yokukhula banokungenelwa kolu nyango.
• Izixhobo zokuncedisa ukuva okanye iityhubhu zokulinganisa uxinzelelo: Ukuba unengxaki yokuva, ezi zixhobo zinokukunceda.
• Amayeza: Amayeza angasetyenziswa ukulawula iimpawu ezinje ngokuxhuzula, ukurhawuzelelwa sisisu, kunye ne-ADHD (ingxaki yokungakwazi ukugxila kakhulu).
• Utyando:Kukho amaxesha apho kufuneka utyando kwizinto ezifana ne-scoliosis, isifo sentliziyo, kunye nomlomo oqhekekileyo kunye nentamo.

Unyango oluchanekileyo umntwana wakho alufumanayo luya kuxhomekeka kwiindawo zomzimba wakhe ezichaphazelekileyo kunye neempawu zakhe. Basenokufuna ukubona iingcali ezahlukeneyo (umz., ingcali yentliziyo, ingcali yemithambo-luvo, ugqirha wamazinyo, ingcali ye-endocrinologist, ingcali yesisu, ingcali ye-immunology, ingcali yamehlo, okanye ingcali ye-urologist).

Uvavanyo lwezonyango kunye nolunye uphando luyaqhubeka okwangoku ukuze kufunyanwe unyango lwesizathu se-Kabuki syndrome.

Ukuba umntwana wam une-Kabuki syndrome, ndingamnceda njani?

Kuqhelekile ukuziva wothukile kwaye usoyika xa ufunda into efana nale. Kodwa awuwedwa. Eyona nto ibalulekileyo onokuyenza kukufunda okuninzi kangangoko unako ngale meko. Sebenzisana nogqirha womntwana wakho ukuze ufumane into onokuyenza ukuze unike umntwana wakho unyango olufanelekileyo. Kunokuba luncedo kakhulu ukujoyina amaqela enkxaso kwiintsapho zabantwana abanezifo ezingaqhelekanga. Apho unokwabelana ngamava nabanye abazali, ubuze imibuzo, kwaye ufumane intuthuzelo.

Ingakanani iminyaka yobomi bomntu one-Kabuki syndrome?

Uqikelelo kunye nobude bobomi bomntu onesifo iKabuki kuxhomekeke kubukhali bemeko yakhe. Nangona esi sifo sinokuchaphazela iindawo ezininzi zomzimba, asisoloko sinjalo. Ukunyanga iimpawu ezithile zomntwana kunye nokuthintela iingxaki kubalulekile ekuphuculeni ikamva lakhe.

Abantu abadala abanale meko banokuphila ubomi obuqhelekileyo. Banokwenza imisebenzi yemihla ngemihla kwaye basebenze imisebenzi yesingxungxo. Nangona kunjalo, badla ngokufuna uncedo oluxhaswayo. Ngenxa yokuba le meko ingaqhelekanga, akukho phando lungako olwenziweyo malunga nobude bobomi babantu abane-Kabuki syndrome. Ngoko ke, kungcono ukubuza ugqirha womntwana wakho malunga nobude bobomi babo ngokusekelwe kwimeko yabo ethile.

Okokugqibela, izinto ekufuneka uzikhumbule

Kunokuba yinto eyoyikisayo ukufumanisa ukuba umntwana wakho unesimo semfuza. Nangona kunjalo, iimpawu, unyango, kunye noqikelelo lwesifo seKabuki ziyahluka kakhulu kumntu nomntu. Thetha nogqirha womntwana wakho ukuze ufunde okungakumbi ngemeko ethile yomntwana wakho. Angakunceda kolu hambo. Amaqela enkxaso kwiintsapho ezichaphazelekileyo ziimeko zemfuza ezingaqhelekanga nawo angaba ngumthombo omkhulu wamandla. Angaphendula imibuzo yakho kwaye akunike ithemba ngemeko yomntwana wakho. Ungaze uzive uwedwa. Musa ukuthandabuza ukufumana uncedo olufunayo.

"Isifo sikaKabuki, Izifo zofuzo, Izifo zabantwana, Iimpawu zobuso, Iingxaki zophuhliso, Uphuhliso lwengqondo, Isifo sikaKabuki, Izifo ezingaqhelekanga