Iyini i-Wolf-Hirschhorn Syndrome? Ingabe ingathinta ingane yakho?

Wake wezwa ngesimo sofuzo esibizwa ngokuthi i-Wolf-Hirschhorn Syndrome? Mhlawumbe uke waqaphela izimpawu ezithile enganeni yakho futhi awuqiniseki ukuthi siyini. Uma kunjalo, lesi sihloko sizoba sibaluleke kakhulu kuwe. Ake sixoxe ngakho kalula, ngendlela ongayiqonda. Ungesabi, ukuqaphela kuyisinyathelo sokuqala.

Iyini ngempela i-Wolf-Hirschhorn Syndrome?

Kalula nje, i-Wolf-Hirschhorn Syndrome iyisimo esingavamile sofuzo . Sibangelwa ushintsho oluncane kuma-chromosome angaphakathi kwamaseli ethu. Cabanga ngaso njengesakhiwo esakhiwe ngokwecebo eliyinkimbinkimbi. Lolu hlelo lusezakhini zethu zofuzo. Ama-chromosome ayizakhiwo ezigcina lolu lwazi lofuzo.

Uma sikhuluma iqiniso, lesi simo esibizwa ngokuthi i-Wolff-Hirschhorn syndrome senzeka lapho kuba nokulahleka noma ukususwa kwezinto zofuzo ekugcineni kwengalo emfushane ye-chromosome 4, ekhona kuwo wonke amaseli ethu. Yingakho ngezinye izikhathi ibizwa ngokuthi '4p- syndrome'. Uhlamvu 'p' lumelela ingalo emfushane ye-chromosome.

Lolu shintsho lwezakhi zofuzo lungathinta izingxenye ezahlukene zomzimba wengane, ikakhulukazi inhliziyo nobuchopho . Lungabangela nokuthi ezinye izingane zibe nokuxhuzula. Izingane ezinalesi simo zingase zibe nezici ezithile zobuso. Isibonelo, ibanga phakathi kwamehlo libanzi kunokujwayelekile, ibunzi liphakeme, kanti ikhanda lincane kunokujwayelekile. Akukhona lokho kuphela, kungathinta kakhulu intuthuko yengqondo yengane kanye nentuthuko yomzimba .

Ubani othinteka kakhulu yilesi simo?

Ngenxa yokuthi i-Wolff-Hirschhorn syndrome iyisimo sofuzo, ingenzeka kunoma ubani . Ezimweni eziningi, ayizuzwa njengefa. Lokhu kusho ukuthi ayidluliselwa kusuka kumzali kuya enganeni. Ezimweni eziningi, lesi simo sibangelwa ushintsho olungahleliwe lwe-chromosome (de novo) . Lokhu kungenzeka ngesikhathi sokuthuthukiswa kwamaseli eqanda likamama, noma ngesikhathi sokuthuthukiswa kwamaseli esidoda sikababa, noma ekuqaleni kombungu. Lapho lolu shintsho lwe-"de novo" lwenzeka, akekho emndenini okudingeka ukuthi ube nalesi simo ngaphambili.

Kodwa-ke, ucwaningo lukhombisile ukuthi amantombazane anamathuba amancane okuthola lesi simo kunabafana.

Ivame kangakanani i-Wolff-Hirschhorn syndrome?

Lesi yisimo esingavamile kakhulu . Ngokwezibalo, cishe oyedwa kwabangu-50,000 abazalwa bephila uyathinteka.Kulinganiselwa ukuthi lesi simo sithinta abantu ababalelwa ku-100,000 kuphela. Kodwa-ke, lesi silinganiso singase sibe yinto ephansi kakhulu. Ezinye izingane zingase zingabi nokuxilongwa okusemthethweni ngoba izimpawu zazo zincane kakhulu noma zincane kangangokuthi kungenzeka ukuthi azinaso lesi simo. Noma, izimpawu zingase zihlonzwe kabi njengezimpawu zesinye isimo sofuzo.

Ziyini izimpawu ze-Wolff-Hirschhorn syndrome?

Izimpawu ze-Wolff-Hirschhorn syndrome zingahluka kuye ngengane, futhi ubukhali bazo bungahluka . Lezi zimpawu zithinta izingxenye ezahlukene zomzimba wengane.

Izici ezikhethekile ezibonakala ebusweni

Kunezici ezithile zobuso ezingabonakala ezinganeni ezinalesi simo. Lezi zifaka:

• Umlomo oqhekekile noma udebe oluqhekekile: Abanye abantwana bangazalwa benomlomo oqhekekile noma udebe olungaphezulu.
• Izici zobuso ezingalingani: Lokhu kusho ukuthi izinhlangothi zobuso zesokudla nezesobunxele azifani, futhi kungase kube nomehluko ngobukhulu noma ngesimo.
• Ibhuloho lekhala eliyisicaba: Ingxenye ephezulu yekhala ingaba isicaba.
• Ibunzi eliphezulu: Indawo yebunzi ingaba phezulu kunokujwayelekile.
• Izindlebe eziphansi noma ezingasebenzi kahle: Izindlebe zingase zibe ngaphansi kunokuvamile noma kungase kube nezinguquko ezithile esimweni sezindlebe.
• Amazinyo angekho noma angajwayelekile: Amanye amazinyo angase angabonakali noma kungase kube nokuphazamiseka esimweni samazinyo.
• Isilevu esincane (i-micrognathia): Indawo yesilevu ingaba ncane kunejwayelekile.
• Ikhanda elincane: Ikhanda lingase libe lincane kunejwayelekile.
• Amehlo abanzi, akhukhumele: Isikhala esiphakathi kwamehlo siyanda, futhi amehlo angase abonakale emakhulu kancane futhi ekhukhumele. Lokhu ngezinye izikhathi kubizwa ngokuthi "ukubukeka kwesigqoko sempi samaGreki," kodwa akubukeki kufana kuwo wonke umuntu.

Izici zokukhula nentuthuko

Ngesikhathi umntwana esesesibelethweni, ukhula kancane . Lokhu kungabangela izinkinga ezithile ekuzalweni:

• Ubuthakathaka bemisipha (hypotonia) noma imisipha engakakhuli kahle: Umntwana angase abe nomzimba obuthakathaka nobuthakathaka. Lokhu kungenzeka ngoba imisipha ayikakhuli ngokugcwele.
• Izinyathelo zokukhula ezibambezelekile: Njengabanye abantwana, kuthatha isikhathi ukuthi izinto ezifana nokuqinisa intamo, ukugingqika, ukuhlala, ukuma, nokuhamba zenzeke.
• Ubunzima bokudla: Izinto ezifana nokungakwazi ukuncela noma ubunzima bokugwinya ukudla zingavimbela ingane ekutholeni ukudla okudingakalayo.
• Ubunzima bokuthola isisindo: Ngenxa yalezi zinkinga zokuncelisa, ukukhuluphala komntwana kuhamba kancane.

Ngenxa yalokhu kubambezeleka kokukhula nokukhula, inganeKungabangela nobude obufushane .

Izimpawu ezihlobene nobuchopho

Izingane ezizalwa zine-Wolff-Hirschhorn syndrome zingase zibe nokukhubazeka kwengqondo okuthile . Lokhu kungaba lula kwabanye abantwana futhi kube nzima nakakhulu kwabanye. Ucwaningo luye lwabonisa ukuthi lezi zingane zingase zibe namakhono amahle okuxhumana nabantu, kodwa zingase zibe nobunzima ngolimi nokuxhumana . Lokhu kusho ukuthi nakuba zingase zikwazi ukuhleka nokudlala nabanye, zingase zibe nobunzima bokuziveza ngamazwi nangokukhuluma.

Futhi, laba bantwana bangase babe nokuquleka ebuntwaneni babo bonke . Ngezinye izikhathi lokhu kuquleka kungaba nzima ukukwelashwa. Kodwa-ke, njengoba ingane ikhula, ukuvama kwalokhu kuquleka kungancipha noma kuphele nya.

Izimpawu ezithinta ezinye izinhlelo zomzimba

I-Wolff-Hirschhorn syndrome ingathinta nezinye izingxenye zomzimba wengane:

• Ukugoba komgogodla (i-scoliosis noma i-kyphosis): Izimo ezinjengokugoba eceleni noma ukugoba phambili komgogodla (kyphosis) zingase zenzeke.
• Isikhumba esomile: Isikhumba singaba soma ngaso sonke isikhathi.
• Izinkinga zokukhula kwenhliziyo (i-atrial septal defect): Izimo zenhliziyo ezizalwa nazo njengembobo odongeni phakathi kwe-atria yenhliziyo zingaba khona.
• Ukuntuleka kwesimiso somzimba sokuzivikela: Ngenxa yokuthi umzimba awukwazi ukumelana nezifo, izifo zingavela njalo.
• Izinkinga zokusebenza kwezinso: Ukusebenza kwezinso kungase kuthinteke.
• Izinkinga ngomgudu womchamo kanye nohlelo lokuzala (umgudu wokuzala): Kungase kube nezinkinga ezithile ngomgudu womchamo noma izitho zokuzala.
• Izinkinga zokubona: Kungase kube nezinkinga ezithile zokubona.

Kungani kwenzeka i-Wolff-Hirschhorn syndrome?

Njengoba sesixoxile ngaphambili, imbangela eyinhloko ye-Wolff-Hirschhorn syndrome ukulahleka (ukususwa) kwengxenye yezinto zofuzo engalweni emfushane ye-chromosome 4 (4p) . Lokhu kulahleka kwengxenye ye-chromosome kwenzeka ngesikhathi sokwakheka kweqanda likamama noma iseli lesidoda sikababa, noma ngesikhathi sokuqala kwe-embryogenesis. Ngalesi sikhathi, lapho amangqamuzana okuzala ehlukana, ama-chromosome awakopishwa kahle, futhi ingxenye ye-chromosome iyaphuka bese ilahleka.

Akuvamile kakhulu ukuthi i-Wolff-Hirschhorn syndrome ingabangelwa yisimo esibizwa ngokuthi i-ring chromosome . Lokhu kwenzeka lapho i-chromosome iphuka ezindaweni ezimbili bese kuthi iziphetho ezimbili eziphukile zihlangane ndawonye ukuze zakhe isimo esifana ne-ring. Uma lokhu kwenzeka, ingxenye ye-chromosome iyaphuka bese isuswa.

Uma ingane ilahlekelwa yingxenye ye-chromosome yayo, izakhi zofuzo kuleyo ngxenye azitholi imiyalelo edingekayo yokwakha umzimba. Yilokho okubangela izimpawu ze-Wolff-Hirschhorn syndrome. Ubukhulu bengxenye engekho ye-chromosome bungahluka kuye ngomuntu. Uma ingane ilahlekelwa yingxenye enkulu ye-chromosome yayo yesine, izimpawu zingaba zimbi kakhulu.

Ingabe lokhu kuyinto evela ezizukulwaneni ngezizukulwane?

Esikhathini esiningi (cishe u-90%) lokhu kungenxa yoshintsho lwezakhi zofuzo olusanda kwenzeka ngokungahleliwe, kodwa ngephesenti elincane kakhulu (cishe u-10-15%) lungazuzwa njengefa kumzali oyedwa . Ezimweni ezinjalo, omunye wabazali (ngokuvamile umama) angase abe nesimo esibizwa ngokuthi i-balanced translocation .

Kalula nje, ukudluliselwa okulinganiselwe kwenzeka lapho ama-chromosome amabili noma ngaphezulu kumuntu ehlukana, izingcezu zishintshana, bese ziphinde zihlangane ngendlela ehlukile. Abantu abanalolu hlobo "lokudluliselwa okulinganiselwe" ngokuvamile abanazo izinkinga zempilo futhi baphilile. Kodwa-ke, uma benezingane, banamathuba amaningi okudlulisela uhlobo olungalingani lokudluliselwa ezinganeni zabo. Lokhu kusho ukuthi ingane ingaba nengxenye eyengeziwe noma engekho ye-chromosome 4. Uma lokhu kudluliselwa kubangela ukulahlekelwa noma ukuncipha kwesifunda ku-chromosome 4 esibizwa ngokuthi i-4p16.3, ingane izoba ne-Wolff-Hirschhorn syndrome. Ngezinye izikhathi, lokhu "kudluliselwa okulinganiselwe" kungasebenza emindenini izizukulwane ngezizukulwane.

Uyithola kanjani ngokunembile lesi sifo?

Udokotela wakho angase asole ukuthi ingane yakho inesifo i-Wolff-Hirschhorn syndrome ebuntwaneni bayo, ikakhulukazi uma ibona izimpawu ezinjengalezi:

• Izici ezikhethekile ebusweni
• Izinkinga zokukhula
• Ukulibaziseka kokukhula
• Ukudlikizela

Uma unesinye noma ngaphezulu salezi zimpawu, udokotela uzophenya kabanzi.

Yiziphi izivivinyo eziqinisekisa ukuxilongwa?

Indlela eyinhloko yokuqinisekisa ukuxilongwa iwukuhlola izakhi zofuzo . Lokhu kubizwa ngokuthi ukuhlolwa kwe -chromosome microarray . Lokhu kwenziwa ukuthola ngisho nezinguquko ezincane kakhulu kuma-chromosome engane. Lokhu kuhlolwa kungasebenzisa isampula yegazi, isampula yamathe, noma i-swab yesihlathi. Besebenzisa lesi sampula, odokotela bahlola i-DNA yengane.

Uma lokhu kuhlolwa kuqinisekisa ukuthi ingxenye ethile ye-chromosome 4, okungukuthi indawo ebizwa ngokuthi i-4p16.3, isusiwe , ingane itholakala ine-Wolff-Hirschhorn syndrome.

Wenzani njengokwelashwa?

Ngenxa yokuthi i-Wolff-Hirschhorn syndrome iyisimo esibangelwa izakhi zofuzo, okwamanje ayikho ikhambi layo. Kodwa-ke,Kunezindlela zokwelapha ezahlukahlukene ezingasiza ukulawula izimpawu futhi zisize ingane iphile kahle ngangokunokwenzeka. Ukwelashwa kuhlelwa ngokusekelwe ezimpawini ezithile zengane ngayinye.

Izindlela zokwelapha eziyinhloko yilezi ezilandelayo:

• Ukuhlinzwa: Kungase kudingeke ukuhlinzwa ukuze kulungiswe ezinye izinkinga ekukhuleni komntwana, ikakhulukazi izinkinga zenhliziyo (njenge-atrial septal defect).
• Ukwelashwa ngokomzimba noma ukwelashwa ngokomsebenzi: Lokhu kwelashwa kusiza ukuthuthukisa amandla emisipha, ukugcina ibhalansi, nokukuqeqesha ukwenza imisebenzi yansuku zonke ngokuzimela.
• Izinhlelo zemfundo ekhethekile: Izinhlelo zemfundo ekhethekile namasu asetshenziswa ukusiza intuthuko yengqondo yengane kanye namakhono okufunda.
• Umuthi: Umuthi unikezwa ukulawula ukuxhuzula.

Ngaphezu kwakho konke lokhu, kungaba usizo kakhulu emndenini wakho ukuthola ukwelulekwa ngofuzo . Abeluleki ngofuzo bangakusiza ukuthi uqonde kangcono isimo sengane yakho, kanye nokukufundisa ukuthi ungayisekela kanjani ingane yakho nokuthi yiziphi izinselele engase ibhekane nazo esikhathini esizayo.

Hlobo luni lochwepheshe okufanele ngifune ukwelashwa kubo?

Ingane ene-Wolff-Hirschhorn syndrome kuzodingeka ibone ochwepheshe abahlukahlukene kuyo yonke iminyaka yayo yobuntwana. Lokhu kwenzelwa ukuqapha impilo yayo nokuthi izimpawu zithinta kanjani impilo yayo. Ngemva kokuxilongwa, ivame ukudinga ukuhlolwa njalo kanye nezeluleko ezivela kochwepheshe abanjengalaba:

• Udokotela wezinzwa: Uhlola ukusebenza kobuchopho kanye nezimo ezifana nokuquleka.
• Udokotela Wenhliziyo: Uhlola izinkinga zenhliziyo.
• Udokotela Wamazinyo: Njalo qaphela impilo yamazinyo akho.
• Udokotela wamehlo: Ubona ngezinkinga zokubona.

Umhlinzeki wakho wokunakekelwa okuyinhloko, noma udokotela womndeni, angase futhi ancome ukuhlolwa kwegazi njalo ukuze kuqashwe izinto ezifana nokusebenza kwezinso zengane yakho ngesikhathi sokuhlolwa kwaminyaka yonke.

Ingabe ikhona indlela yokuvimbela lesi simo?

Njengoba sixoxile ngaphambili, i-Wolff-Hirschhorn syndrome ivame ukuba umphumela wokuguqulwa kwezakhi zofuzo okungahleliwe, okusha okubizwa ngokuthi "de novo" . Ngakho-ke, ayikho indlela yokuvimbela lesi simo ukuthi singenzeki. Kodwa-ke, ezimweni ezingavamile, ezinye izingane zingazuza lesi simo kubazali bazo. Uma unomlando womndeni wezifo zofuzo, noma uma ufuna ukwazi ngengozi yokuthi ingane yakho izuze isimo sofuzo, kungcono ukukhuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo kanye nokwelulekwa kwezakhi zofuzo .

Uma ingane ine-Wolff-Hirschhorn syndrome, yini engalindelwa?

Nakuba okwamanje kungekho ikhambi le-Wolff-Hirschhorn syndrome, ukwelashwa kwezimpawu zengane kungaholela emiphumeleni emihle futhi kunikeze ukwesekwa ekudingayo ukuze iphile impilo ejabulisayo nenempilo ngangokunokwenzeka.

Ukubikezela komuntu onalesi simo kuncike ebunzimeni bezimpawu zakhe . Izimpawu, ikakhulukazi lezo ezithinta inhliziyo nobuchopho, zinganciphisa isikhathi sokuphila. Kodwa-ke, ngokwelashwa nokunakekelwa okufanele kwezokwelapha, izingane eziningi ezizalwa nalesi simo ziyasinda zize zibe ngabantu abadala .

Kufanele ubonane nini nodokotela?

Uma ingane yakho inanoma yiziphi zalezi zimpawu, bheka udokotela ngokushesha:

• Isilonda esingapholi (uma isilonda sesibe noqweqwe futhi siphuma uketshezi olucacile noma oluphuzi olufana nobovu).
• Izifo ezivame ukuba njengomkhuhlane (umkhuhlane, ukukhwehlela, umphimbo obuhlungu) kanye nokungakwazi kwazo ukuphulukiswa kalula.
• Izinyathelo zokuthuthukiswa ezibambezelekile.
• Ukungadli njalo.
• Ukushaya kwenhliziyo okungajwayelekile, ukuphefumula kanzima, noma ukukhathala okukhulu (lokhu kungaba izimpawu zesifo senhliziyo njenge-atrial septal defect).

Izimo lapho kufanele kudingeke khona ukwelashwa okuphuthumayo

Ingane yakho ene-Wolf-Hirschhorn syndrome isengozini yokuxhuzula . Uma kwenzeka ukuxhuzula, ingane ingase ibhekane nalokhu okulandelayo:

• Ukulahlekelwa ingqondo okwesikhashana phakathi kwemizuzwana engama-30 nemizuzu emibili.
• Ukuqhaqhazela okungalawuleki kwezitho (ukudlikizela).

Uma kwenzeka into efana nale, shayela u-1990 ngokushesha noma uthathe ingane uyise e-Emergency Treatment Unit (ETU) eseduze.

Imibuzo ebalulekile okufanele uyibuze udokotela wakho

Kungaba nzima kakhulu ukuthola ukuthi ingane yakho inesimo sofuzo esifana ne-Wolf-Hirschhorn syndrome. Kodwa-ke, kubalulekile ukuxoxa nganoma yimiphi imibuzo noma ukukhathazeka ongase ube nakho nodokotela wakho ngalesi sikhathi. Ungabuza imibuzo efana nale:

• Ingabe ikhona imiphumela emibi emuthini onikezwe ingane?
• Ingakanani inkinga yengane yami?
• Yini okufanele ngiyenze uma ingane yami yephuza ukuhlangabezana nezigaba zokukhula?
• Ingabe ingane yami idinga ukubona abanye ochwepheshe?
• Singathola yini ukwelulekwa ngofuzo? Lusizo luni oluzosinika lona?

Okokugcina, izinto okudingeka uzikhumbule

Ukuthola ukuthi ingane yakho inesifo sofuzo esifana ne-Wolf-Hirschhorn Syndrome kungaba yinto enzima. Kodwa khumbula ukuthi awuwedwa. Nakuba izimpawu zalesi simo zingashintsha impilo, udokotela wakho uzokunikeza uhlelo lokwelashwa. Futhi, ngokusebenzisana nabanye ochwepheshe, bazosiza ingane yakho ukuba iphile impilo ejabulisayo nenempilo.

Into ebaluleke kakhulu ukuba nolwazi oluphelele ngesimo sengane yakho futhi uyinikeze ukwesekwa okudingekayo. Ukuthola ukwelulekwa ngofuzo kuzokunikeza amandla amakhulu kulolu hambo. Bhekana nale nselele ngaphandle kokwesaba, ngengqondo eqinile. Sikufisela inhlanhla wena nengane yakho!

I- Wolf-Hirschhorn Syndrome, izifo zofuzo, ama-chromosome, i-chromosome 4, i-4p- syndrome, ukubambezeleka kokukhula, izici zobuso, ukuxhuzula, ukwelulekwa ngofuzo