Uyazazi yini i-Koolen-de Vries Syndrome? Ake sixoxe ngayo!

Ingabe ingane yakho encane iphuza kancane kunezinye izingane lapho ihlala phansi, ikhuluma, noma ihamba? Kuvamile ngabazali ukuzizwa bekhathazekile futhi bekhathazekile lapho bebona izinto ezinjengalezi. Kodwa akuwona wonke umuntu ophuzayo okuyinkinga enkulu. Kodwa-ke, kubalulekile ukuqaphela ezinye izimo ezingavamile ezibangelwa izici zofuzo. Isibonelo, i-Koolen-de Vries Syndrome yisimo esingasizwa nsuku zonke, kodwa kufanelekile ukwazi ngaso. Ake sixoxe ngakho kalula, ngendlela ongayiqonda.

Iyini i-Koolen-de Vries Syndrome?

Kalula nje, i-Kuhlman-de Vries Syndrome (KdVS) yisimo esingavamile sofuzo. Sihlobene nama-chromosome emzimbeni wethu. Ukuze kube sobala, sibangelwa ushintsho oluncane kunombolo yethu ye-chromosome 17. Lesi simo singabangela ukubambezeleka kokukhula , izinga elithile lokukhubazeka kwengqondo, kanye nezici ezithile zobuso .

Ungase uqale uqaphele lesi simo lapho ingane yakho ihlala yodwa sekwephuzile kunezinye izingane ezingontanga yayo, ikhuluma amagama ayo okuqala kamuva, noma ithatha isikhathi eside ukuthatha izinyathelo zayo zokuqala. Elinye igama lalesi simo yi-`17q21.31 microdeletion syndrome`. Nakuba igama lingase lizwakale liyinkimbinkimbi kancane, ake sibheke ukuthi lisho ukuthini.

Into ebalulekile ukuthi nakuba lezi zimpawu zingahluka kuye ngomntwana, kuyisici esivamile salesi simo ukuthi lezi zingane zivame ukujabula kakhulu futhi zinobungane . Lokho kuyinto enhle kakhulu. Kodwa-ke, zizodinga usizo lwezokwelapha kanye nokusekelwa kukho konke ukuphila kwazo ukuze zilawule ezinye izimpawu ezengeziwe.

Yiziphi izimpawu ezingabonakala kulesi simo?

Nakuba izimpawu ezibonakala ezinganeni ezine-Kuhlman-de Vries syndrome (KdVS) zingahluka kumuntu ngamunye, kunezici ezithile ezivamile.

Izimpawu ezivame ukubonakala:

• Ukulibaziseka kokukhula: Lokhu kuyisibonakaliso esikhulu. Lokhu kusho ukuthi izinto ezifana nokukhasa, ukuhlala, ukuhamba, nokukhuluma zingase zifike sekwephuzile kunezinye izingane ezingontanga efanayo.
• Ukukhubazeka kwengqondo okuncane kuya kokuphakathi: Kungase kudinge isikhathi esengeziwe kanye nosizo lokufunda nokuqonda izinto ezintsha.
• Ithoni yemisipha ebuthakathaka (hypotonia): Uma sikhuluma iqiniso, imisipha emzimbeni ingase ibonakale ikhululekile kancane futhi ingenakho ukuqina. Lokhu kungenza kube nzima ukwenza ukunyakaza okuthile.
• I-Cyclic vomitation syndrome: Ezinye izingane zingase zihlanze njalo izinsuku eziningana ngaphandle kwesizathu esibonakalayo. Lokhu kungase kuphinde kwenzeke ngezikhathi ezithile.

Ezinye izimpawu ezingase zibonwe ezinye izingane:

Ngaphezu kwalezi zimpawu eziyinhloko, ezinye izingane zingase zibe nezinye izinkinga.

• Ubunzima bokuncelisa ezinganeni: Ubunzima bokuncela nokugwinya ukudla, ikakhulukazi ngesikhathi sezinsana, bungaba khona.
• Ukukhubazeka kwenhliziyo, esinyeni noma izinso: Abanye abantwana bangazalwa benezinkinga ezithile enhliziyweni, esinyeni noma ezinso.
• I-Scoliosis: Isimo lapho umgogodla ugoba khona ohlangothini olulodwa.
• Izimo zesifo sokuwa/ Ukuquleka : Kungase kube nezimo ezifana nokuquleka.
• Amasende angaphambuki: Isimo lapho amasende ezingane zesilisa engehli ngokuphelele esiswini aye emasendeni.

Ukuziphatha komntwana kanye nobuntu bakhe

Izingane ezine-Koolen-de Vries Syndrome zivame ukubhekwa njengezijabule kakhulu futhi ezinobungane . Ziyakwazi ukuhlangana nabantu. Kodwa-ke, ngezinye izikhathi zingase zibe nezimo ezifana ne- Attention-Deficit/Hyperactivity Disorder (ADHD) noma izimo ze-neurodevelopmental kanye nokuziphatha njenge- Autism Spectrum Disorder .

Izici ezikhethekile ezingabonakala ebusweni bezingane ezine-Koolen-de Vries Syndrome

Izingane ezinalesi simo zingase zibe nezici ezithile zobuso. Kodwa khumbula, ukuthi nje unesinye noma ezimbili zalezi zimpawu akusho ukuthi unesifo. Lokhu kufanele kuqinisekiswe udokotela.

• Ubuso obude
• Ibunzi elikhulu
• Impumulo emise okwepheya
• Ijwabu leso eligobile (i-ptosis)
• Izindlebe ezinkulu, ezivelele
• Ukubukeka okubheke phezulu kwamakhona angaphandle kwamehlo
• Isiphetho sesikhumba esimboze amakhona angaphakathi kwamehlo (ama-epicanthal folds)

Lezi zimpawu azibonakali ngendlela efanayo kubo bonke abantwana. Abanye abantwana bangase babe nezimpawu eziningana zalezi, kanti abanye bangase babe nezimbalwa.

Yini ebangela i-Koolen-de Vries Syndrome?

Manje ake sibone ukuthi yini ebangela lesi simo. I-Koolen-de Vries Syndrome ibangelwa ukuguquka noma ukususwa ngokuphelele kwe-gene `KANSL1` etholakala ku-chromosome 17.

Cabanga ngakho, iseli ngalinye emzimbeni wethu linama-chromosome. La ma-chromosome aphethe izakhi zofuzo ezinquma konke kusukela ekubukekeni kwethu kuya ezicini zethu. Ngokuvamile, sinamakhophi amabili e-chromosome ngayinye, eyodwa evela kumama wethu kanye nenye evela kubaba wethu.

Kusuka ezinganeni ezine-Kuhlman-de Vries syndrome (KdVS)Iningi (cishe ama-95%) linekhophi engekho yejini le-`KANSL1` kunombolo yabo ye-chromosome 17. Lokhu kubizwa ngokuthi i-`microdeletion` , okusho ukuthi ingxenye encane kakhulu yejini ayikho. Ingxenye encane esele inejini le-`KANSL1`, kodwa inokwehluka okuvimbela ijini ekusebenzeni kahle.

Indima yesakhi sofuzo i-`KANSL1`

Le gene ye-`KANSL1` ibaluleke kakhulu. Ngoba ikhiqiza iphrotheni esiza ukulawula ukuthi ezinye izakhi zofuzo zisebenza kanjani. Lokhu kwenzeka ngokushintsha into ebizwa ngokuthi i-`chromatin` . I-`Chromatin` iyinhlanganisela yamaprotheni kanye ne -`DNA` . Yilokhu okwenza i-`DNA` ifakwe kuma-chromosome. Ngakho ungabona ukuthi ibaluleke kangakanani i-`KANSL1` gene ekuthuthukisweni nasekusebenzeni okufanele kwezingxenye nezinhlelo ezahlukahlukene emzimbeni wethu.

Ingabe lesi simo siwufuzo? (Ifa)

I-Cullen-de Vries syndrome (KdVS) yisimo esingazuzwa njenge- "autosomal dominant" . Kalula nje, uma ingane izuza lokhu kuhlukahluka kwezakhi zofuzo kumzali oyedwa kuphela, ingane ingaba nalesi simo. Sihilela ushintsho olulodwa lwezakhi zofuzo noma ukususwa kweseli ngalinye.

Kodwa-ke, akuyona into ezuzwa ngabazali ngaso sonke isikhathi. Kwezinye izimo, lesi simo singavela ngokungahleliwe, de novo. Lokhu kusho ukuthi akekho emndenini oke waba nalesi simo ngaphambili, futhi ushintsho lwezakhi zofuzo lungenzeka okokuqala ngesikhathi sokuthuthukiswa kwamaseli okuzala engane, noma ngesikhathi sokuqala kombungu. Ngakho-ke, kungenzeka ukuthi ingane ikhule noma ngabe akekho emndenini oke waba nalesi simo.

Odokotela bakuthola kanjani lesi simo?

Uma usola ukuthi ingane yakho inalesi simo, into yokuqala udokotela angayenza ukuhlola ingane yakho ngokucophelela bese ekubuza ngezimpawu. Lokhu kuzokusiza ukuthi uqonde kangcono intuthuko nokuziphatha kwengane yakho.

Bese kuthi, ukuqinisekisa lesi simo ngokuqinisekile, kudingeke ukuhlolwa kwezakhi zofuzo. Kuye ngohlobo loshintsho lwezakhi zofuzo, uhlobo lokuhlolwa okwenziwayo lungahluka.

• I-microarray ye-Chromosomal: Lokhu kuhlola kungathola ukuthi ingxenye ye-chromosome ayikho yini. Lokhu kusiza ekutholeni 'i-microdeletion' esikhulume ngayo ngaphambilini.
• Ukulandelana kwezakhi zofuzo: Lokhu kungabona ukuhlukahluka okucashile ku-gene ye-KANSL1 uqobo.

Ngenxa yokuthi akuzona zonke izingane ezine-Kuhlman-de Vries syndrome (KdVS) ezinezimpawu ezifanayo, odokotela bangase batuse ukuhlolwa okwengeziwe ukuze baqonde kangcono isimo sengane. Isibonelo:

• Ukuhlolwa kokukhula: Lokhu kuhlola izinga lokukhula kwengane kanye namakhono ayo.
• I-Echocardiogram: Ihlola umsebenzi kanye nesakhiwo senhliziyo.
• Ukuhlolwa kokudla: Lokhu kuzobheka noma yiziphi izinkinga zokudla noma ukuphuza.
• I-ultrasound yezinso: Ihlola noma yiziphi izinkinga ngezinso.
• Ukuskena kwe-Magnetic Resonance Imaging (MRI): Kuthatha izithombe ezinemininingwane yezitho zangaphakathi, njengobuchopho.
• Ama-X-ray: Ukufuna izinkinga ngamathambo, njenge-scoliosis.

Akuwona wonke umuntu okudingeka enze zonke lezi zivivinyo. Odokotela banquma ukuthi yiziphi izivivinyo okufanele bazenze ngokusekelwe ezimpawini nasezidingweni zengane.

Yiziphi izindlela zokwelapha i-Koolen-de Vries Syndrome?

Okwamanje akukho ukwelashwa kwe-Koolen-de Vries Syndrome. Lokhu kungenxa yokuthi kuyisimo sofuzo. Kodwa-ke, kunezindlela ezahlukene zokwelapha kanye nezindlela zokuphatha ezingasiza ingane ukuthi ilawule izimpawu zayo, ithuthukise ikhwalithi yempilo yayo, futhi iyisize ikhule ifinyelele emandleni ayo aphelele. Lezi zindlela zokwelapha zenzelwe izidingo zengane.

Ukwelashwa

Odokotela bavame ukuncoma izinhlobo eziningana zokwelapha:

• Ukwelashwa Komsebenzi: Lokhu kusiza ingane ukuthuthukisa amakhono okunyakaza komzimba (isib. ukubhoboza izinkinobho, ukubhala) kanye namakhono okunyakaza komzimba (isib. ukugijima nokugxuma) adingekayo ukuze yenze imisebenzi yansuku zonke.
• Ukwelashwa ngokomzimba: Udokotela wezokwelapha ngokomzimba usiza ukuqinisa imisipha yengane, ukuthuthukisa ibhalansi, kanye nokwenza kube lula ukunyakaza njengokuhamba. Lokhu kubaluleke kakhulu ezinganeni ezinesimo esibizwa ngokuthi "i-hypotonia."
• Ukwelapha ngenkulumo: Lokhu kusiza ukunqoba ubunzima ekukhulumeni nasekuvezeni imibono. Abelaphi benkulumo basebenzisa izindlela ezahlukene njengezithombe, ulimi lwezandla, kanye namadivayisi okukhuluma.

Ezinye izindlela zokwelapha kanye nokungenelela

Kuye ngezimpawu zengane, kungadingeka ukwelashwa okwengeziwe:

• Imithi yokuvimbela ukuxhuzula: Izingane ezinesifo sokuxhuzula zidinga ukunikezwa imithi yokulawula lesi sifo.
• Ukubekwa kwepayipi lokudla ukuze kutholakale izinselele zokudla okunempilo: Izingane ezinenkinga yokugwinya noma yokumunca ukudla neziphuzo zingadinga ukufakwa kwepayipi lokudla ngekhala noma esiswini ngqo esiswini ukuze zinikeze ukudla okunempilo okudingekayo.
• Ukuhlinzwa: Ukuhlinzwa kungadingeka ezimweni ezifana ne-scoliosis noma amasende angavuki.

Isikole kanye nokusekelwa

Izingane zingadinga amazinga ahlukene okusekelwa uma kukhulunywa ngokufunda. Ezinye izingane zenza kahle ezikoleni ezivamile, kanti ezinye zidinga usizo olukhethekile lwemfundo . Kubaluleke kakhulu ukudala indawo yokufunda evumelana namakhono nezidingo zengane.

Iyini isikhathi sokuphila kwabantu abane-Koolen-de Vries Syndrome?

Abacwaningi abakwazi ukusho ngokuqinisekile ukuthi isikhathi sokuphila sabantu abanalesi simo singakanani. Ngenxa yokuthi asivamile, kusenezifundo ezimbalwa zesikhathi eside ngaso. Kodwa-ke, ngokusekelwe olwazini lwamanje, ngokuvamile kulindeleke ukuthi abantu abanalesi simo baphile baze babe ngabantu abadala .

Yini okufanele ngiyilindele uma ingane yami ine-Kuhl-de Vries syndrome (KdVS)?

Ukuphila kwezingane ezine-Koolen-de Vries Syndrome kungahluka kakhulu kuye ngokuthi izimpawu zazo zibucayi kangakanani. Ingane yakho ingadinga ukubona odokotela abahlukene futhi iye emitholampilo njalo. Ukwelashwa kanye nemithi kungaba yingxenye ebalulekile yokuphila kwayo. Futhi, ezinye izingane ezinalesi simo zingase zingadingi ukubona odokotela noma ukuthola ukwelashwa kaningi njengabanye.

Into ebaluleke kakhulu ukukhumbula ukuthi awuwedwa. Odokotela nabelaphi bengane yakho bakanye nawe kuzo zonke izinyathelo.

Ungasiza ingane yakho ithole ukwesekwa ekudingayo esikoleni. Lokhu kungafaka phakathi amakilasi akhethekile noma umfundisi . Khuluma nothisha bengane yakho kanye nezikhulu zesikole ukuze uyisize ithole izinsiza ezidingayo. Isibonelo, uma ingane yakho inezinkinga zokukhuluma, qiniseka ukuthi isebenza nochwepheshe wezokukhuluma.

Abantu abadala abane-Kuhlman-de Vries Syndrome (KdVS) bavame ukuthola kunzima ukuphila ngokuzimela. Lokhu kuyinto edinga ukuhlolwa kanye nabanakekeli babo nodokotela, kuye ngesimo somuntu ngamunye.

Uma uthola ukuthi ingane yakho ine-Kuhlman-de Vries Syndrome (KdVS), kuvamile ukuzizwa unemizwa eyahlukahlukene, okuhlanganisa ukudabuka, ukukhathazeka, mhlawumbe ngisho nentukuthelo. Akulula ukubhekana naleyo mizwa. Kodwa, ngifuna ukukukhumbuza ukuthi awuwedwa. Odokotela bengane yakho, abahlengikazi, kanye nabelaphi bazokusiza kulolu hambo. Kusukela ekuxilongweni kuya ekwelashweni, bazibophezele ekukusizeni ukuphatha isimo sengane yakho nokusiza ingane yakho iphile impilo engcono.

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

• I-Koolen-de Vries Syndrome iyisimo esingavamile sofuzo. Sibangelwa ukuguquka kwezakhi zofuzo ze-`KANSL1` ku-chromosome 17.
• Ukulibaziseka kokukhula, ukukhubazeka kwengqondo, kanye nezici zobuso ezihlukile kuphakathi kwezimpawu eziyinhloko zalesi simo.
• Laba bantwana bavame ukujabula futhi banobungane .
• Nakuba kungekho ikhambi elithile, kunezindlela zokwelapha ezahlukahlukene zokulawula izimpawu nokuthuthukisa ikhwalithi yokuphila .
• Ukuhlonza kusenesikhathi kanye nokungenelela okudingekayo kubaluleke kakhulu ekukhuleni kwengane.
• Uma ingane yakho inalesi simo, into ebaluleke kakhulu ukulandela iseluleko sezokwelapha, ukunikeza ukwelashwa okudingekayo, nokunikeza ingane yakho uthando nokusekelwa okwanele .
• Ukujoyina amaqembu okusekela abazali bezingane ezinalezi zimo kungaba umthombo omkhulu wamandla. Ungalokothi unqikaze ukubuza odokotela bakho ngemibuzo nezinto ezikukhathazayo.

Sithemba ukuthi lolu lwazi lukusizile ukuthi uqonde i-Koolen-de Vries Syndrome.

I- Cullen-De Vries Syndrome, Izifo Zofuzo, Ukubambezeleka Kokukhula, Ukukhubazeka Kwengqondo, I-KANSL1 Gene, I-Chromosome 17, Impilo Yengane