Ingabe ingane yakho inkulu kancane kunezinye izingane lapho izalwa? Uma lokho kwenzeka, ungase ujabule, kodwa ungase ube nesifiso sokwazi, mhlawumbe uze ukhathazeke, uzibuze, "Kungani ingane yami inkulu kangaka?" Esikhathini esiningi, lokhu kungenxa yokuthi wazalwa unengane ende nenempilo. Kodwa-ke, akuvamile kakhulu, lokhu kungabangelwa yisimo esingavamile sofuzo. Namuhla, sikhuluma ngesinye sezimo ezinjalo, i-Beckwith-Wiedemann Syndrome (BWS) . Ungesabi ukuzwa leli gama. Uma wazi ngalokhu, wena nodokotela wakho ningasebenzisana ukunakekela kahle ingane yakho.
Kalula nje, iyini i-Beckwith-Wiedemann Syndrome (BWS)?
Lesi yisimo esingavamile sofuzo. Okwenzekayo ukuthi ezinye izakhi zofuzo ezihilelekile ekukhuleni komzimba womntwana ziba matasa kakhulu. Ngenxa yalokho, ezinye izingxenye zomzimba womntwana noma wonke umzimba zikhula ngokushesha kunokujwayelekile.
Lokhu kubizwa nangokuthi "i-Beckwith-Wiedemann spectrum." Igama elithi "Spectrum" lisho njenge-spectrum. Lokhu kusho ukuthi lesi simo asithinti wonke umntwana ngendlela efanayo. Ezinye izingane zingase zibe nesibonakaliso esisodwa noma ezimbili kuphela ezihambisana nalokhu. Ezinye izingane zingase zibe nezimpawu eziningi. Ngakho-ke, azikho izingane ezimbili ezinalesi simo ezifanayo.
Into ebalulekile ukuthi nakuba kungekho ukwelashwa okuhlala njalo kwalesi simo, kunezindlela zokwelapha ezinhle kakhulu zokulawula izimpawu nokuvimbela izinkinga. Ngokunakekelwa okufanele kwezokwelapha, iningi lalaba bantwana liphila impilo ejwayelekile nenempilo.
Yiziphi izici eziyinhloko zalesi simo?
Njengoba sishilo ekuqaleni, akuzona zonke izingane ezizoba nazo zonke lezi zimpawu. Kodwa kunezimbalwa ezivamile. Udokotela wakho uzosola i-BWS uma ebona eyodwa noma ngaphezulu yalezi zimpawu.
| Isici | Incazelo elula |
|---|---|
| Kukhulu kunokujwayelekile (i-Macrosomia) | Ekuzalweni, isisindo sabo nobude babo kuphakeme kakhulu kunezingane ezivamile. Bade kunabanye abantwana abaneminyaka efanayo. Kodwa-ke, lokhu kukhula okusheshayo kuvame ukwehla lapho beneminyaka engu-8, futhi babuyela ekuphakameni okuvamile lapho sebekhulile. |
| Ulimi olukhulu (i-Macroglossia) | Ulimi lukhulu kunokuvamile. Lokhu kungenza kube nzima ngengane ukuncela bese kamuva ikhuluma. Ngezinye izikhathi, kungaba nobunzima bokuphefumula. |
| Izinkinga zodonga lwesisu (i-Omphalocele / i-Umbilical Hernia) | I-Omphalocele: Isimo lapho amathumbu omntwana, njengamathumbu, ephuma enkabeni futhi embozwe ulwelwesi oluncane esikhundleni sokuba ngaphakathi esiswini. I-Umbilical Hernia: Ukuphuma kwezicubu zesisu enkabeni. Lokhu kungalungiswa ngokuhlinzwa. |
| Ukwandiswa kohlangothi olulodwa lomzimba (i-Hemihyperplasia) | Uhlangothi olulodwa lomzimba (isb., uhlangothi lwesokudla) lukhula lube lukhulu kunolunye uhlangothi (uhlangothi lwesobunxele). Lokhu kungakhawulelwa ohlangothini lonke noma engalweni noma emlenzeni owodwa nje. |
| Ushukela ophansi egazini (i-Hypoglycemia) ezinganeni ezisanda kuzalwa | Ezinsukwini zokuqala noma emavikini ngemva kokuzalwa, amazinga kashukela egazini lomntwana angehla kakhulu ngendlela eyingozi. Ukuphatha lokhu kahle kubalulekile ekukhuleni kobuchopho. |
| Ezinye izici | Isibindi esikhulu (i-hepatomegaly), ukukhubazeka kwezinso, kanye nezimbotshana ezincane noma imibimbi emaqakaleni endlebe kungabonakala. |
Ingabe kufanele ngempela sesabe ingozi yomdlavuza?
Lesi yisihloko esethusa kakhulu abazali uma kukhulunywa nge-BWS. Yebo, izingane ezine-BWS zisengozini enkulu yokuthola izinhlobo ezithile zomdlavuza wezingane (ikakhulukazi i-Wilms tumor, umdlavuza wezinso, kanye ne-hepatoblastoma, umdlavuza wesibindi) kunezinye izingane.
Kodwa, sidinga ukuqonda izinto ezimbalwa ngokucacile lapha.
1. Nakuba ingozi iphezulu, iyonke isephansi. Le ngozi ithinta cishe izingane ezingu-7-8 kwezingu-100 ezine-BWS.
2. Le ngozi iphezulu kakhulu eminyakeni yokuqala engu-8 yokuphila. Ngemva kwalokho, ingozi iyancipha kakhulu.
3. Into ebaluleke kakhulu - ukuhlolwa njalo kwezokwelapha!Ngenxa yokuthi odokotela bayazazi lezi zingozi, zonke izingane ezine-BWS zihlolwa ngesimiso esijwayelekile. Ngokuvamile, kwenziwa ukuhlolwa kwe-ultrasound yesisu kanye nokuhlolwa kwegazi (ukuhlolwa kwe-AFP) njalo ezinyangeni ezintathu.
Inzuzo enkulu yalokhu kuhlolwa okuvamile ukuthi, uma umdlavuza uvela, ungatholakala ngokushesha. Ngemuva kwalokho , amathuba okwelashwa okuphelele aphezulu kakhulu. Ngakho-ke, into ebaluleke kakhulu ukungakwesabi lokhu ngokungadingekile, kodwa ukwenza ukuhlolwa ngesikhathi ngokwemiyalelo kadokotela.
Kungani lokhu kwenzeka? Yiziphi izizathu?
Isizathu salokhu siyinkimbinkimbi kancane. Iseli ngalinye emzimbeni wethu linento ebizwa ngokuthi ama-chromosome. Lezi zifana nezincwadi zemiyalelo yokwakha imizimba yethu. Ku-BWS, kukhona ushintsho emsebenzini wezakhi zofuzo eziningana ku-chromosome 11 ezilawula ukukhula.
Kalula nje, izakhi zofuzo "ezilawula" ukukhula ziyathula kancane, kanti izakhi zofuzo "eziqhuba" ukukhula ziyasebenza kakhulu. Lokhu kubizwa ngokuthi i-genomic imprinting .
- Lokhu kuvame ukwenzeka ngengozi: cishe u-85% wezingane ezine-BWS azinawo umlando womndeni walesi sifo. Lokhu kusho ukuthi lolu shintsho lwezakhi zofuzo lwenzeka ngengozi, ngokungahleliwe.
- Akuvamile ukuzuza ngefa: Amaphesenti amancane, cishe ayi-10-15%, angase athole ushintsho lwezakhi zofuzo oluhlobene nalesi simo komunye wabazali bawo.
- Isixhumanisi se-ART: Ucwaningo lukhombisile ukuthi izingane ezikhulelwe ngobuchwepheshe bokuzala obusizayo (ART), njenge -IVF (In Vitro Fertilization) , zinengozi ekhulayo kancane yokuthola izimo ezifana ne-BWS. Kodwa-ke, ucwaningo ngalesi sixhumanisi lusaqhubeka.
Odokotela bakuthola kanjani lokhu? (Ukuxilongwa)
I-BWS ingahlolwa ngaphambi noma ngemva kokuzalwa komntwana.
Ukuxilongwa Kwangaphambi Kokubeletha
Ngesikhathi sokuhlolwa kwe-ultrasound ngesikhathi sokukhulelwa, udokotela angase asole i-BWS uma ebona okulandelayo:
- Ingane inkulu kunejwayelekile.
- Inani elikhulayo le-amniotic fluid elizungeze umntwana (i-polyhydramnios)
- Ukwandiswa kwe-placenta
- Ukwanda kwezinso (i-nephromegaly)
- Inkinga yodonga lwesisu (i-omphalocele)
Uma ubona lezi zimpawu, udokotela wakho angaqinisekisa isimo ngokwenza ukuhlolwa okukhethekile kwezakhi zofuzo, njenge -amniocentesis (ukuhlolwa koketshezi lwe-amniotic).
Ngemva kokuzalwa komntwana (Ukuxilongwa Kwangemva Kokubeletha)
Ngemva kokuzalwa kwengane, udokotela uzohlola ingane futhi abheke izimpawu zomzimba esixoxe ngazo ngaphambili (ulimi olukhulu, ukwandiswa kolunye uhlangothi lomzimba, njll.). Uma kukhona ukungabaza, kungathathwa isampula yegazi lomntwana futhi kwenziwe ukuhlolwa okukhethekile kofuzo ukuqinisekisa ukuthi ingane ine-BWS nokuthi iyini imbangela.
Yiziphi izindlela zokwelapha? (Ukwelashwa)
Ngenxa yokuthi i-BWS ingathinta izingxenye eziningi zomzimba, ingane ayiphathwa udokotela oyedwa kuphela. Ithimba lochwepheshe, okuhlanganisa udokotela wezingane, odokotela abahlinzayo, kanye nabelaphi bezenkulumo, bayayinakekela ingane.
Ukwelashwa kunqunywa ngokusekelwe ezimpawini zomntwana.
| Inkinga | Ukwelashwa nokuphathwa |
|---|---|
| Ushukela ophansi egazini (i-Hypoglycemia) | Ukunikeza i-glucose (ushukela usawoti) ngemithambo yegazi, ukunikeza ubisi njalo, futhi ngezinye izikhathi ukunikeza imithi. Lokhu kuphathwa kahle kakhulu esibhedlela. |
| Ulimi olukhulu (i-Macroglossia) | Ukusetshenziswa kwezingono ezikhethekile zokuncelisa, ukwelashwa kokukhuluma, ukusetshenziswa komshini we-CPAP uma kuvela ubunzima bokuphefumula ngesikhathi sokulala. Ezinye izingane kungadingeka zihlinzwe ukunciphisa ulimi. |
| Izinkinga zodonga lwesisu (i-Omphalocele) | Ngokushesha ngemva kokuzalwa komntwana noma ngokushesha ngemva kwalokho, izitho eziphumile zibuyiselwa esiswini ngokuhlinzwa bese udonga lwesisu luvalwa. |
| Ukwandiswa kohlangothi olulodwa lomzimba (i-Hemihyperplasia) | Uma kukhona umehluko ngobude bemilenze, ungalungiswa ngokusebenzisa izicathulo ezikhethekile (ama-orthotics). Udokotela uhlala eqapha leli zinga lokukhula. |
| Ingozi yomdlavuza | Kuze kube neminyaka engaba ngu-8 ubudala, kwenziwa ukuhlolwa kwe-ultrasound yesisu kanye nokuhlolwa kwegazi (i-AFP) njalo ezinyangeni ezi-3. |
Ingane izoba nekusasa elinjani? (Isibikezelo)
Lona kungaba ngumbuzo omkhulu engqondweni yakho. Nakuba i-BWS iyisimo esiyinkimbinkimbi, iningi lezingane ezinalesi simo ziphila impilo enhle kakhulu, ejabulisayo, nejwayelekile.
Kunezici eziningana ezinquma ikusasa lomntwana:
- Yiziphi izimpawu umntwana anazo futhi zimbi kangakanani?
- Ukuthi kwasheshe kangakanani ukuxilongwa.
- Ukuthi ukwelashwa kanye nokuhlolwa komdlavuza kwenziwa ngesikhathi.
Uma lesi sifo sitholakala kusenesikhathi, sinikezwa ukwelashwa okufanele, futhi sigcinwa ngaphansi kokuqashwa njalo kwezokwelapha, umntwana angalindela imiphumela emihle kakhulu.
Uma uthola ukuthi ingane yakho ine-BPS, ungase uzizwe ushaqekile, udabuke, futhi wesaba. Kuvamile. Ungase ube nemibuzo eminingi. Khuluma nodokotela wakho ngakho konke lokhu. Uzokwazi ukukunikeza ukuqonda okungcono kakhulu ngesimo esithile sengane yakho. Khumbula, awuwedwa. Kukhona ithimba elikhulu lodokotela abangakusiza. Ndawonye, ningakha indawo engcono kakhulu yokuba ingane yakho ikhule ijabule futhi inempilo.
Umlayezo Wokuya Nawe Ekhaya
- I-Beckwith-Wiedemann Syndrome (BWS) yisimo esingavamile sofuzo esithinta ukukhula kwengane. Asithinti bonke abantwana ngendlela efanayo.
- Izici ezibalulekile zifaka phakathi ukuba mkhulu kunokuvamile, ulimi olukhulu, izinkinga zodonga lwesisu, kanye nokukhula kohlangothi olulodwa lomzimba.
- Izingane ezine-BWS zisengozini encane yokuthuthukisa izinhlobo ezithile zomdlavuza ngesikhathi zisencane, kodwa ukuhlolwa njalo kungabathola kusenesikhathi futhi kubaphulukise ngokuphelele.
- Nakuba kungekho ikhambi elihlala njalo lalesi simo, kunezindlela zokwelapha ezisebenza kahle kakhulu zezinkinga ezivelayo.
- Ngokwelashwa okufanele kanye nokuqashwa, izingane eziningi ezine-BWS ziphila impilo ejwayelekile, enempilo, nephelele. Kubalulekile ukusebenzisana eduze nodokotela wakho.
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