Ingaba umntwana wakho mkhulu kancinci kunabanye abantwana xa ezalwa? Xa oko kusenzeka, usenokuba wonwabile, kodwa usenokuba nomdla kancinci, mhlawumbi ude ube novalo, uzibuza, "Kutheni umntwana wam mkhulu kangaka?" Ixesha elininzi, oku kungenxa yokuba wazalwa enomntwana omde nosempilweni. Nangona kunjalo, kunqabile kakhulu, oku kunokubangelwa yimeko engaqhelekanga yemfuza. Namhlanje, sithetha ngesinye sezi meko, iBeckwith-Wiedemann Syndrome (BWS) . Musa ukoyika ukuva eli gama. Ukuba uyazi oku, wena nogqirha wakho ninokusebenzisana ekunyamekeleni kakuhle umntwana wakho.
Ngamafutshane, yintoni iBeckwith-Wiedemann Syndrome (BWS)?
Le yimeko engaqhelekanga yemfuza. Okwenzekayo kukuba ezinye ii-genes ezibandakanyeka ekukhuleni komzimba womntwana ziba zisebenza kakhulu. Ngenxa yoko, ezinye iindawo zomzimba womntwana okanye wonke umzimba zikhula ngokukhawuleza kunesiqhelo.
Oku kukwabizwa ngokuba yi-"Beckwith-Wiedemann spectrum." Igama elithi "Spectrum" lithetha njenge-spectrum. Oku kuthetha ukuba le meko ayichaphazeli umntwana ngamnye ngendlela efanayo. Abanye abantwana banokuba neempawu enye okanye ezimbini kuphela ezinxulumene noku. Abanye abantwana banokuba neempawu ezininzi. Ke ngoko, akukho bantwana babini abanale meko abafanayo.
Into ebalulekileyo kukuba nangona kungekho nyango luhlala luhleli lwale meko, kukho unyango oluhle kakhulu lokulawula iimpawu nokuthintela iingxaki. Ngonyango olufanelekileyo, uninzi lwaba bantwana luphila ubomi obuqhelekileyo nobusempilweni.
Ziziphi iimpawu eziphambili zale meko?
Njengoko besitshilo ngaphambili, ayingomntwana wonke oza kuba nazo zonke ezi mpawu. Kodwa zimbalwa ezixhaphakileyo. Ugqirha wakho uza kurhanela ukuba umntwana unesifo sentliziyo esingapheliyo (i-BWS) ukuba ubona enye okanye ezingaphezulu kwezi mpawu.
| Uphawu | Ingcaciso elula |
|---|---|
| Inkulu kunesiqhelo (iMacrosomia) | Ekuzalweni, ubunzima babo nobude babo buphezulu kakhulu kunobo bomntwana oqhelekileyo. Bade kunabanye abantwana abaneminyaka efanayo. Nangona kunjalo, oku kukhula ngokukhawuleza kudla ngokucotha xa beneminyaka esi-8, baze babuyele kubude obuqhelekileyo xa sele bekhulile. |
| Ulwimi olukhulu (iMacroglossia) | Ulwimi lukhulu kunesiqhelo. Oku kunokwenza kube nzima kumntwana ukuncancisa aze kamva athethe. Ngamanye amaxesha, kunokubakho ubunzima bokuphefumla. |
| Iingxaki zodonga lwesisu (i-Omphalocele / i-Umbilical Hernia) | I-Omphalocele: Imeko apho amathumbu omntwana, njengamathumbu, aphuma ngenkaba aze agqunywe yinwebu encinci endaweni yokuba ngaphakathi kwesisu. I-Umbilical Hernia: Ukuphuma kwezicubu zesisu ngenkaba. Ezi zinokulungiswa ngotyando. |
| Ukwandiswa kwelinye icala lomzimba (iHemihyperplasia) | Icala elinye lomzimba (umz., icala lasekunene) likhula libe likhulu kunelinye icala (icala lasekhohlo). Oku kunokukhawulelwa kwicala lonke okanye ingalo okanye umlenze omnye. |
| Iswekile ephantsi egazini (iHypoglycemia) kumntwana osandul’ ukuzalwa | Kwiintsuku zokuqala okanye kwiiveki emva kokuzalwa, amanqanaba eswekile egazini lomntwana anokwehla ngendlela eyingozi. Ukulawula oku kubalulekile ekuphuhlisweni kwengqondo. |
| Ezinye iimpawu | Isibindi esikhulu (i-hepatomegaly), iingxaki zezintso, kunye nemibimbi emincinci okanye imibimbi kwi-earlobes inokubonwa. |
Ngaba ngokwenene kufuneka soyike umngcipheko womhlaza?
Le yingongoma eyoyikisa abazali kakhulu xa kufikwa kwi-BWS. Ewe, abantwana abane-BWS basengozini enkulu yokufumana iintlobo ezithile zomhlaza wabantwana (ingakumbi i-Wilms tumor, umhlaza wezintso, kunye ne-hepatoblastoma, umhlaza wesibindi) kunabanye abantwana.
Kodwa, kufuneka siqonde izinto ezimbalwa ngokucacileyo apha.
1. Nangona umngcipheko uphezulu, ngokubanzi usephantsi. Lo mngcipheko uchaphazela malunga nabantwana abayi-7-8 kwabayi-100 abane-BWS.
2. Lo mngcipheko uphezulu kakhulu kwiminyaka esi-8 yokuqala yobomi. Emva koko, umngcipheko uyancipha kakhulu.
3. Eyona nto ibalulekileyo - ukuvavanywa rhoqo ngugqirha!Ngenxa yokuba oogqirha besazi ngale ngozi, zonke iintsana ezine-BWS zihlolwa rhoqo. Ngokwesiqhelo, kwenziwa i-ultrasound yesisu kunye novavanyo lwegazi (uvavanyo lwe-AFP) rhoqo kwiinyanga ezintathu.
Eyona nzuzo iphambili yolu vavanyo rhoqo kukuba, ukuba umhlaza uvela, unokubonwa kwangoko. Emva koko , amathuba okuphiliswa ngokupheleleyo ngonyango aphezulu kakhulu. Ke ngoko, eyona nto ibalulekileyo kukungabi naloyiko ngokungeyomfuneko ngale nto, kodwa kukwenza uvavanyo ngexesha ngokwemiyalelo kagqirha.
Kutheni oku kusenzeka? Zithini izizathu?
Isizathu soku siyinkimbinkimbi kancinci. Yonke iseli emzimbeni wethu inento ebizwa ngokuba zii-chromosomes. Ezi zifana neencwadi zemiyalelo yokwakha imizimba yethu. Kwi-BWS, kukho utshintsho kumsebenzi weejini ezininzi kwi-chromosome 11 ezilawula ukukhula.
Ngamafutshane, ii-genes "ezilawula" ukukhula ziyathula kancinci, kwaye ii-genes "eziqhuba" ukukhula ziya kusebenza ngakumbi. Oku kubizwa ngokuba yi -genomic imprinting .
- Oku kudla ngokuba yinto eyenzeka ngengozi: malunga ne-85% yabantwana abane-BWS abanayo imbali yesifo kusapho lwabo. Oku kuthetha ukuba olu tshintsho lwemfuza lwenzeka ngengozi, ngokungacwangciswanga.
- Ayifumaneki njengelifa: Ipesenti encinci, malunga ne-10-15%, inokuzuza utshintsho lwemfuza olunxulumene nale meko komnye wabazali bayo.
- Ikhonkco le-ART: Uphando lubonise ukuba abantwana abakhulelweyo ngeteknoloji yokuncedisa ekuzaleni (ART), efana ne -IVF (In Vitro Fertilization) , banomngcipheko okhulayo wokufumana izifo ezifana ne-BWS. Nangona kunjalo, uphando malunga nale khonkco lusaqhubeka.
Oogqirha bayixilonga njani le nto? (Ukuxilongwa)
I-BWS inokuxilongwa ngaphambi okanye emva kokuba umntwana ezelwe.
Ukuxilongwa Kwangaphambi Kokubeleka
Ngexesha lokuhlolwa kwe-ultrasound ngexesha lokukhulelwa, ugqirha unokurhanela i-BWS ukuba ubona oku kulandelayo:
- Usana lukhulu kunesiqhelo.
- Ukwanda kolwelo lwe-amniotic olujikeleze umntwana (i-polyhydramnios)
- Ukwandiswa kwe-placenta
- Ukwandiswa kwezintso (i-nephromegaly)
- Ingxaki yodonga lwesisu (i-omphalocele)
Ukuba ubona ezi mpawu, ugqirha wakho unokuqinisekisa imeko ngokwenza uvavanyo olukhethekileyo lwemfuza, olufana ne -amniocentesis (uvavanyo lwe-amniotic fluid).
Emva kokuba umntwana ezelwe (Ukuxilongwa emva kokubeleka)
Emva kokuba umntwana ezelwe, ugqirha uza kumhlola umntwana aze akhangele iimpawu zomzimba esizixubushile ngaphambili (ulwimi olukhulu, ukwanda kwelinye icala lomzimba, njl.njl.). Ukuba kukho amathandabuzo, kunokwenziwa isampuli yegazi lomntwana kwaye kwenziwe uvavanyo olukhethekileyo lwemfuza ukuqinisekisa ukuba umntwana une-BWS kwaye yintoni unobangela.
Zithini iindlela zonyango? (Unyango)
Ngenxa yokuba i-BWS inokuchaphazela amalungu amaninzi omzimba, usana alunyangwa ngugqirha omnye kuphela. Iqela leengcali, kuquka ugqirha wezingane, oogqirha botyando, kunye neengcali zokuthetha, zinyamekela usana.
Unyango lumiselwa ngokusekelwe kwiimpawu zomntwana.
| Ingxaki | Unyango kunye nolawulo |
|---|---|
| Iswekile ephantsi egazini (iHypoglycemia) | Ukunika iglucose (iswekile enetyuwa) ngomthambo, ukunika ubisi rhoqo, kwaye ngamanye amaxesha ukunika amayeza. Oku kulawulwa kakuhle esibhedlele. |
| Ulwimi olukhulu (iMacroglossia) | Ukusetyenziswa kweengono ezikhethekileyo zokuncancisa, unyango lokuthetha, ukusetyenziswa komatshini we-CPAP ukuba kukho ubunzima bokuphefumla xa ulele. Abanye abantwana banokufuna utyando lokunciphisa ulwimi. |
| Iingxaki zodonga lwesisu (i-Omphalocele) | Emva nje kokuba umntwana ezelwe okanye kungekudala emva koko, amalungu aphumileyo afakwa ngotyando esiswini kwaye udonga lwesisu luyavalwa. |
| Ukwandiswa kwelinye icala lomzimba (iHemihyperplasia) | Ukuba kukho umahluko kubude bemilenze, ingalungiswa ngokusebenzisa izihlangu ezikhethekileyo (i-orthotics). Ugqirha uhlala ejonga eli nqanaba lokukhula. |
| Umngcipheko womhlaza | Ukuya kuthi ga kwiminyaka esi-8 ubudala, kwenziwa iiskeni ze-ultrasound zesisu kunye novavanyo lwegazi (AFP) rhoqo kwiinyanga ezi-3. |
Luhlobo luni lwekamva oluza kuba nalo umntwana? (Ingxelo yokuxela kwangaphambili)
Lo usenokuba ngumbuzo omkhulu engqondweni yakho. Nangona i-BWS yimeko enzima, uninzi lwabantwana abanale meko baphila ubomi obusempilweni, obonwabisayo nobuqhelekileyo.
Kukho izinto ezininzi ezichaphazela ikamva lomntwana:
- Ziziphi iimpawu umntwana anazo kwaye zinzima kangakanani?
- Indlela ekhawulezileyo ngayo ukuxilongwa.
- Ingaba unyango kunye nokuhlolwa komhlaza kwenziwa ngexesha elifanelekileyo na.
Ukuba isifo sichongiwe kwangethuba, sinikwe unyango olufanelekileyo, kwaye sigcinwe phantsi kweliso likagqirha rhoqo, umntwana unokulindela iziphumo ezilungileyo kakhulu.
Xa ufumanisa ukuba umntwana wakho une-BPS, unokuziva wothukile, ulusizi, kwaye uyoyika. Yinto eqhelekileyo. Usenokuba nemibuzo emininzi. Thetha nogqirha wakho ngayo yonke le nto. Uya kukwazi ukukunika ukuqonda okungcono ngemeko ethile yomntwana wakho. Khumbula, awuwedwa. Kukho iqela elikhulu loogqirha abanokukunceda. Kunye, ninokwenza indawo engcono kakhulu yomntwana wakho ukuba akhule onwabile kwaye esempilweni.
Umyalezo Wokuya Ekhaya
- I-Beckwith-Wiedemann Syndrome (BWS) yimeko engaqhelekanga yemfuza echaphazela ukukhula komntwana. Ayibachaphazeli bonke abantwana ngendlela efanayo.
- Iimpawu eziphambili ziquka ukuba nkulu kunesiqhelo, ulwimi olukhulu, iingxaki zodonga lwesisu, kunye nokwanda kwecala elinye lomzimba.
- Abantwana abane-BWS basengozini enkulu yokuba neentlobo ezithile zomhlaza ngexesha lobuntwana, kodwa ukuhlolwa rhoqo kunokuzifumanisa kwangethuba kwaye zinyangeke ngokupheleleyo.
- Nangona kungekho nyango luhlala luhleli lwale meko, kukho unyango olusebenzayo kakhulu kwiingxaki ezivelayo.
- Ngonyango olufanelekileyo nokubekwa esweni, uninzi lwabantwana abane-BWS baphila ubomi obuqhelekileyo, obusempilweni, nobupheleleyo. Kubalulekile ukusebenzisana ngokusondeleyo nogqirha wakho.
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