Yintoni iWolf-Hirschhorn Syndrome? Ngaba ingachaphazela umntwana wakho?

Ngaba wakha weva ngemeko yemfuza ebizwa ngokuba yiWolf-Hirschhorn Syndrome? Mhlawumbi uqaphele iimpawu ezithile kumntwana wakho kwaye awuqinisekanga ukuba yintoni. Ukuba kunjalo, eli nqaku liza kuba libaluleke kakhulu kuwe. Masithethe ngayo ngokulula, ngendlela onokuyiqonda. Ungoyiki, ukuqonda linyathelo lokuqala.

Yintoni kanye kanye iWolf-Hirschhorn Syndrome?

Ngamafutshane, iWolf-Hirschhorn Syndrome yimeko engaqhelekanga yemfuza . Ibangelwa lutshintsho oluncinci kwiichromosomes ezingaphakathi kwiiseli zethu. Cinga ngayo njengesakhiwo esakhiwe ngokwesicwangciso esintsonkothileyo. Esi sicwangciso sikwimfuza zethu. Iichromosomes zezona zakhiwo zigcina olu lwazi lwemfuza.

Ngokuchanekileyo, le meko ibizwa ngokuba yiWolff-Hirschhorn syndrome yenzeka xa kukho ukulahleka okanye ukususwa kwezinto zemfuza ekupheleni kwengalo emfutshane yechromosome 4, efumaneka kuzo zonke iiseli zethu. Yiyo loo nto ngamanye amaxesha ibizwa ngokuba yi-'4p- syndrome'. Unobumba u-'p' umele ingalo emfutshane yechromosome.

Olu tshintsho lwemfuza lunokuchaphazela iindawo ezahlukeneyo zomzimba womntwana, ingakumbi intliziyo nengqondo . Lunokubangela ukuba abanye abantwana babe nokuxhuzula. Abantwana abanale meko banokuba neempawu ezithile zobuso. Umzekelo, umgama phakathi kwamehlo mkhulu kunesiqhelo, ibunzi liphezulu, kwaye intloko incinci kunesiqhelo. Akupheleli apho, lunokuchaphazela kakhulu uphuhliso lwengqondo lomntwana kunye nophuhliso lomzimba .

Ngubani ochaphazeleka kakhulu yile meko?

Ngenxa yokuba i-Wolff-Hirschhorn syndrome yimeko yemfuza, inokwenzeka nakubani na . Kwiimeko ezininzi, ayizuzwa njengelifa. Oku kuthetha ukuba ayidluliselwa kumzali ukuya emntwaneni. Kwiimeko ezininzi, le meko ibangelwa kukutshintsha kwe-chromosome okungahleliwe (de novo) . Oku kunokwenzeka nokuba ngexesha lokuphuhliswa kweeseli zeqanda likamama, okanye ngexesha lokuphuhliswa kweeseli zesidoda sikatata, okanye kwasekuqaleni kwe-embryo. Xa olu tshintsho lwe-"de novo" lusenzeka, akukho mntu kusapho ekufuneka abe nale meko ngaphambili.

Nangona kunjalo, uphando lubonise ukuba amantombazana anamathuba amancinci okufumana le meko kunamakhwenkwe.

Ixhaphake kangakanani iWolff-Hirschhorn syndrome?

Le yimeko engaqhelekanga kakhulu . Ngokwezibalo, malunga nomntu omnye kwabangama-50,000 abazalwa bephila uyachaphazeleka.Kuqikelelwa ukuba le meko ichaphazela abantu abamalunga ne-100,000 kuphela. Nangona kunjalo, olu qikelelo lusenokuba luphantsi. Abanye abantwana basenokungafumani ukuxilongwa ngokusemthethweni kuba iimpawu zabo zincinci kakhulu okanye zincinci kangangokuba basenokungabi naso esi sifo. Okanye, iimpawu zisenokungafunyaniswa ngokuchanekileyo njengeempawu zesinye isifo semfuza.

Zithini iimpawu zesifo sikaWolff-Hirschhorn?

Iimpawu zesifo sikaWolff-Hirschhorn zingahluka ukusuka kumntwana ukuya komnye, kwaye ubunzima bazo bungahluka . Ezi mpawu zichaphazela amalungu ahlukeneyo omzimba womntwana.

Iimpawu ezikhethekileyo ezibonwa ebusweni

Kukho iimpawu ezithile zobuso ezinokubonwa ebantwaneni abanale meko. Ezi ziquka:

• Incakuba okanye umlomo oqhekekileyo: Abanye abantwana banokuzalwa benencakuba okanye umlomo ongentla.
• Iimpawu zobuso ezingalinganiyo: Oku kuthetha ukuba amacala obuso angasekunene nangasekhohlo awafani, kwaye kusenokubakho umahluko ngobukhulu okanye kwimilo.
• Ibhulorho yempumlo ethe tyaba: Umphezulu wempumlo usenokuba tyaba.
• Ibunzi eliphezulu: Indawo yebunzi inokuba phezulu kunesiqhelo.
• Iindlebe ezisezantsi okanye ezingasebenzi kakuhle: Iindlebe zisenokubekwa phantsi kunesiqhelo okanye kusenokubakho utshintsho oluthile kwimo yeendlebe.
• Amazinyo angekhoyo okanye angaqhelekanga: Amanye amazinyo asenokungabonakali okanye kusenokubakho iingxaki kwimilo yamazinyo.
• Isilevu esincinci (i-micrognathia): Indawo yesilevu isenokuba ncinci kunesiqhelo.
• Intloko encinci: Intloko isenokuba ncinci kunesiqhelo.
• Amehlo abanzi navuthuzayo: Isithuba esiphakathi kwamehlo siyanda, kwaye amehlo anokubonakala emakhulu kancinci kwaye evuthuzayo. Oku ngamanye amaxesha kubizwa ngokuba "yimbonakalo yesigcina-ntloko somkhosi wamaGrike," kodwa akubonakali kufana kuye wonke umntu.

Iimpawu zokukhula nophuhliso

Ngelixa umntwana esesesibelekweni, ukhula kancinci kancinci . Oku kunokubangela iingxaki ezithile ekuzalweni:

• Ubuthathaka bemisipha (hypotonia) okanye izihlunu ezingakhulanga kakuhle: Umntwana usenokuba nomzimba obuthathaka nobuthathaka. Oku kusenokuba kungenxa yokuba izihlunu azikhulanga ngokupheleleyo.
• Iziganeko zokukhula ezibambezelekileyo: Njengabanye abantwana, kuthatha ixesha ukuba izinto ezifana nokuqinisa intamo, ukuqengqeleka, ukuhlala, ukuma, nokuhamba zenzeke.
• Ubunzima bokutya: Izinto ezifana nokungakwazi ukuncancisa okanye ubunzima bokuginya ukutya zinokuthintela umntwana ekufumaneni izondlo azifunayo.
• Ubunzima bokutyeba: Ngenxa yezi ngxaki zokutyisa, ukutyeba komntwana kuhamba kancinci.

Ngenxa yokulibaziseka kokukhula nophuhliso, umntwanaInokubangela nokuba umntu abe mfutshane .

Iimpawu ezinxulumene nobuchopho

Abantwana abazelwe benesifo sikaWolff-Hirschhorn banokuba nokukhubazeka kwengqondo . Oku kunokuba lula kwabanye abantwana kwaye kube nzima ngakumbi kwabanye. Izifundo zibonise ukuba aba bantwana banokuba nezakhono ezilungileyo zentlalo, kodwa banokuba nobunzima bolwimi nonxibelelwano . Oku kuthetha ukuba nangona benokukwazi ukuhleka nokudlala nabanye, banokuba nobunzima bokuthetha nokuthetha.

Kwakhona, aba bantwana banokuba nokuxhuzula ebuntwaneni babo bonke . Ngamanye amaxesha oku kuxhuzula kunokuba nzima ukunyanga. Nangona kunjalo, njengoko umntwana ekhula, ukuxhaphaka koku kuxhuzula kunokuncipha okanye kuphele ngokupheleleyo.

Iimpawu ezichaphazela ezinye iinkqubo zomzimba

Isifo sikaWolff-Hirschhorn sinokuchaphazela nezinye iindawo zomzimba womntwana:

• Ukugoba komqolo (i-scoliosis okanye i-kyphosis): Iimeko ezinje ngokugoba ecaleni okanye ukugoba phambili komqolo (kyphosis) zinokwenzeka.
• Ulusu olomileyo: Ulusu lunokoma ngalo lonke ixesha.
• Iingxaki zokukhula kwentliziyo (i-atrial septal defect): Iimeko zentliziyo ezizalwa nazo ezifana nomngxuma eludongeni phakathi kwe-atria yentliziyo zinokwenzeka.
• Ukunqongophala kwenkqubo yomzimba yokuzikhusela: Ngenxa yokuba umzimba awukwazi ukumelana nezifo, usulelo lunokwenzeka rhoqo.
• Iingxaki zokusebenza kwezintso: Ukusebenza kwezintso kunokuchaphazeleka.
• Iingxaki zomchamo kunye nenkqubo yokuzala (indlela yokuzala): Ezinye iingxaki zomchamo okanye amalungu okuzala zinokubakho.
• Iingxaki zokubona: Ezinye iingxaki zokubona zinokubakho.

Kutheni kukho i-Wolff-Hirschhorn syndrome?

Njengoko besikhe sathetha ngaphambili, imbangela ephambili yesifo sikaWolff-Hirschhorn kukulahleka (ukususwa) kwenxalenye yezinto zemfuza kwingalo emfutshane yechromosome 4 (4p) . Oku kulahleka kwenxalenye yechromosome kwenzeka nokuba ngexesha lokwenziwa kweqanda likamama okanye iseli yesidoda sikatata, okanye ngexesha lokuqala kwe-embryogenesis. Ngeli xesha, xa iiseli zokuzala zahlukana, iichromosome azikopishwanga ngokuchanekileyo, kwaye inxalenye yechromosome iyaqhekeka kwaye ilahleke.

Kunqabile kakhulu ukuba i-Wolff-Hirschhorn syndrome ibangelwe yimeko ebizwa ngokuba yi-ring chromosome . Oku kwenzeka xa i-chromosome iqhekeka kwiindawo ezimbini kwaye iziphelo ezibini eziqhekekileyo zidibana ukuze zenze imo efana ne-ring. Xa oku kusenzeka, inxalenye ye-chromosome iyaqhekeka ize isuswe.

Xa umntwana elahlekelwa yinxalenye yechromosome yakhe, ii-genes kuloo nxalenye azifumani miyalelo efunekayo yokwakha umzimba. Yiyo loo nto ibangela iimpawu ze-Wolff-Hirschhorn syndrome. Ubungakanani benxalenye elahlekileyo yechromosome bunokwahluka kumntu nomntu. Ukuba umntwana ulahlekelwe yinxalenye enkulu yechromosome yakhe yesine, iimpawu zinokuba nzima ngakumbi.

Ingaba le yinto evela kwizizukulwana ngezizukulwana?

Ixesha elininzi (malunga ne-90%) oku kubangelwa lutshintsho lwemfuza oluvela ngokungacwangciswanga, olusandula ukwenzeka lwe-"de novo", kodwa kwipesenti encinci kakhulu (malunga ne-10-15%) lunokufunyanwa kumzali omnye . Kwiimeko ezinjalo, omnye wabazali (ngokuqhelekileyo ngumama) unokuba nemeko ebizwa ngokuba yi-balanced translocation .

Ngamafutshane, i-balanced translocation iyenzeka xa ii-chromosome ezimbini okanye ngaphezulu emntwini ziqhekeka, iziqwenga zitshintshana, zize ziphinde zinamathele ngendlela eyahlukileyo. Abantu abanolu hlobo lwe-"balanced translocation" badla ngokungabi nangxaki yempilo kwaye basempilweni. Nangona kunjalo, xa benabantwana, banamathuba amaninzi okudlulisela uhlobo lwe-translocation olungalinganiyo kubantwana babo. Oku kuthetha ukuba umntwana unokuba nenxalenye eyongezelelweyo okanye engekhoyo ye-chromosome 4. Ukuba olu tshintsho lubangela ukulahleka okanye ukuncipha kommandla kwi-chromosome 4 ebizwa ngokuba yi-4p16.3, umntwana uya kuba ne-Wolff-Hirschhorn syndrome. Ngamanye amaxesha, olu "balanced translocation" lunokusebenza kwiintsapho izizukulwana ngezizukulwana.

Ungayixilonga njani ngokuchanekileyo le sifo?

Ugqirha wakho unokurhanela ukuba umntwana wakho une-Wolff-Hirschhorn syndrome ebuntwaneni bakhe bokuqala, ingakumbi ukuba ubona iimpawu ezifana nezi:

• Iimpawu ezikhethekileyo ebusweni
• Iingxaki zokukhula
• Ukulibaziseka kophuhliso
• Ukuxhuzula

Ukuba unenye okanye ngaphezulu kwezi mpawu, ugqirha ngokuqinisekileyo uza kuphanda ngakumbi.

Ziziphi iimvavanyo eziqinisekisa ukuxilongwa?

Eyona ndlela iphambili yokuqinisekisa ukuxilongwa kukuvavanywa kwemfuza . Oku kubizwa ngokuba luvavanyo lwe -chromosome microarray . Oku kwenziwa ukuze kufunyanwe notshintsho oluncinci kwii-chromosomes zomntwana. Olu vavanyo lungasebenzisa isampuli yegazi, isampuli yamathe, okanye i-slaw swab. Besebenzisa olu vavanyo, oogqirha bahlola i-DNA yomntwana.

Ukuba olu vavanyo luqinisekisa ukuba inxalenye ethile ye-chromosome 4, oko kukuthi indawo ebizwa ngokuba yi-4p16.3, isusiwe , umntwana ufunyaniswa ukuba une-Wolff-Hirschhorn syndrome.

Wenza ntoni njengonyango?

Ngenxa yokuba isifo sikaWolff-Hirschhorn sisifo esibangelwa lufuzo, okwangoku akukho ndlela yokusinyanga . Nangona kunjalo,Kukho iintlobo ngeentlobo zonyango ezinokunceda ukulawula iimpawu kwaye zincede umntwana aphile kakuhle kangangoko kunokwenzeka. Unyango lucwangcisiwe ngokusekelwe kwiimpawu ezithile zomntwana ngamnye.

Iindlela eziphambili zonyango zezi zilandelayo:

• Utyando: Kunokufuneka utyando ukuze kulungiswe ezinye izinto ezingaqhelekanga ekukhuleni komntwana, ingakumbi iingxaki zentliziyo (ezifana ne-atrial septal defect).
• Unyango lomzimba okanye unyango lomsebenzi: Olu nyango lunceda ekuphuhliseni amandla emisipha, lugcine ibhalansi, kwaye lukuqeqeshe ukuba wenze imisebenzi yemihla ngemihla ngokuzimela.
• Iinkqubo zemfundo ekhethekileyo: Iinkqubo zemfundo ekhethekileyo kunye namaqhinga asetyenziswa ukunceda uphuhliso lwengqondo lomntwana kunye nezakhono zakhe zokufunda.
• Amayeza: Amayeza anikwa ukulawula ukuxhuzula.

Ukongeza kuzo zonke ezi zinto, kunokuba luncedo kakhulu kusapho lwakho ukufumana iingcebiso ngemfuza . Abacebisi ngemfuza banokukunceda uyiqonde ngcono imeko yomntwana wakho, kunye nokukufundisa ngendlela yokuxhasa umntwana wakho kunye nemingeni anokujongana nayo kwixesha elizayo.

Ngabaphi oochwephesha endifanele ndifune kubo unyango?

Umntwana one-Wolff-Hirschhorn syndrome kuya kufuneka abone iingcali ezahlukeneyo ebuntwaneni bakhe bonke. Oku kwenzelwa ukujonga impilo yakhe kunye nendlela iimpawu ezichaphazela ngayo ubomi bakhe. Emva kokufunyaniswa kwesifo, uya kufuna iimvavanyo rhoqo kunye neengcebiso ezivela kwiingcali ezifana nezi:

• Ingcali yezifo zengqondo: Ijonga ukusebenza kwengqondo kunye neemeko ezifana nokuxhuzula.
• Ingcali yentliziyo: Uhlola iingxaki zentliziyo.
• Ugqirha wamazinyo: Soloko uqaphela impilo yamazinyo akho.
• Ugqirha wamehlo: Ujonga iingxaki zokubona.

Ugqirha wakho oyintloko, okanye ugqirha wosapho, unokucebisa ukuba uhlolwe igazi rhoqo ukuze kujongwe izinto ezifana nokusebenza kwezintso zomntwana wakho ngexesha lokuhlolwa konyaka.

Ngaba ikho indlela yokuthintela le meko?

Njengoko besitshilo ngaphambili, i-Wolff-Hirschhorn syndrome idla ngokuba yimbangela yotshintsho lwemfuza oluvela ngokungacwangciswanga, olusandula ukwenzeka lwe-"de novo" . Ke ngoko, akukho ndlela yokuthintela le meko ukuba ingenzeki. Nangona kunjalo, kwiimeko ezingaqhelekanga, abanye abantwana banokuyifumana njengelifa le meko kubazali babo. Ukuba unembali yentsapho yezifo zemfuza, okanye ukuba ufuna ukwazi ngomngcipheko wokuba umntwana wakho afumane isifo semfuza, kungcono ukuthetha nogqirha wakho malunga novavanyo lwemfuza kunye nengcebiso yemfuza .

Ukuba umntwana une-Wolff-Hirschhorn syndrome, yintoni enokulindelwa?

Nangona okwangoku kungekho nyango lwesifo sikaWolff-Hirschhorn, unyango lweempawu zomntwana lunokukhokelela kwiziphumo ezilungileyo kwaye lunike inkxaso ayidingayo ukuze aphile ubomi obonwabisayo nobunempilo kangangoko kunokwenzeka.

Uqikelelo lomntu onesi sifo luxhomekeke kubukhali beempawu zakhe . Iimpawu, ingakumbi ezo zichaphazela intliziyo nengqondo, zinokunciphisa ixesha lokuphila. Nangona kunjalo, ngonyango olufanelekileyo nokhathalelo, abantwana abaninzi abazalwa nale meko baya kusinda baze babe ngabantu abadala .

Ufanele uye nini kugqirha?

Ukuba umntwana wakho unenye yezi mpawu, bonana nogqirha ngokukhawuleza:

• Inxeba elingapholiyo (ukuba inxeba liye laba rhabaxa kwaye liphuma ulwelo olucacileyo okanye olumthubi olufana nobovu).
• Izifo ezifana nomkhuhlane ezixhaphakileyo (umkhuhlane, ukukhohlela, umphimbo obuhlungu) kunye nokungakwazi kwazo ukuphiliswa lula.
• Iziganeko zophuhliso ezilibazisekileyo.
• Ukungatyi rhoqo.
• Ukubetha kwentliziyo okungaqhelekanga, ukuphefumla kancinci, okanye ukudinwa kakhulu (ezi zisenokuba ziimpawu zesifo sentliziyo esifana ne-atrial septal defect).

Iimeko apho kufuneka kufunwe unyango olungxamisekileyo

Umntwana wakho one-Wolf-Hirschhorn syndrome usemngciphekweni wokuxhuzula . Ukuba umntwana unesixhuzula, unokufumana oku kulandelayo:

• Ukulahlekelwa yingqondo okwethutyana phakathi kwemizuzwana engama-30 nemizuzu emibini.
• Ukungcangcazela okungalawulekiyo kwamalungu omzimba (ukuxhuzula).

Ukuba kwenzeka into efana nale, fowunela u-1990 ngoko nangoko okanye umse umntwana kwiYunithi yoNyango oluNgxamisekileyo (ETU) ekufutshane.

Imibuzo ebalulekileyo yokubuza ugqirha wakho

Kunokuba nzima kakhulu ukufumanisa ukuba umntwana wakho unesimo semfuza esifana ne-Wolf-Hirschhorn syndrome. Nangona kunjalo, kubalulekile ukuxoxa ngayo nayiphi na imibuzo okanye iinkxalabo onokuba nazo nogqirha wakho ngeli xesha. Ungabuza imibuzo efana nale:

• Ngaba kukho naziphi na iziphumo ebezingalindelekanga kumayeza anikwe umntwana?
• Ingxaki yomntwana wam inzulu kangakanani?
• Ndingenza ntoni ukuba umntwana wam ufika kade kwinqanaba lokukhula?
• Ngaba umntwana wam kufuneka abone ezinye iingcali?
• Ngaba singafumana iingcebiso ngemfuza? Luluphi uncedo oluya kusinika lona?

Okokugqibela, izinto ekufuneka uzikhumbule

Ukufumanisa ukuba umntwana wakho unesimo semfuza esifana neWolf-Hirschhorn Syndrome kunokuba ngamava anzima. Kodwa khumbula ukuba awuwedwa. Nangona iimpawu zesi sifo zinokutshintsha ubomi, ugqirha wakho uza kukunika isicwangciso sonyango. Kwaye, ngokusebenzisana nezinye iingcali, baya kunceda umntwana wakho aphile ubomi obonwabisayo nobunempilo.

Eyona nto ibalulekileyo kukwazi kakuhle imeko yomntwana wakho kwaye umnike inkxaso efunekayo. Ukufumana ingcebiso ngemfuza kuya kukunika amandla amakhulu kolu hambo. Jongana nalo mceli mngeni ngaphandle koloyiko, ngengqondo eqinileyo. Sikunqwenelela okuhle kodwa wena nomntwana wakho!

Isifo sikaWolf -Hirschhorn, izifo zemfuza, ii-chromosomes, i-chromosome 4, i-4p- syndrome, ukulibaziseka kophuhliso, iimpawu zobuso, ukuxhuzula, ingcebiso yemfuza