Ingabe ingane yakho inezinkinga eziningana zalezi ndawonye? Ake sixoxe nge-VATER Syndrome / VACTERL Association!

Ungase ukhathazeke kakhulu lapho odokotela bekutshela ukuthi ingane yakho entsha ivele yaba nezinguquko noma amaphutha ezingxenyeni eziningana zomzimba wayo. Mhlawumbe ukuskena okwenziwe ngaphambi kokuba ingane izalwe kukunikeze umbono ngento efana nale. Lesi yisimo esizokhuluma ngaso namuhla, i-VATER Syndrome, noma i-VACTERL Association. Ungakhathazeki, ake sikuqonde kalula lokhu.

Iyini i-VATER Syndrome / VACTERL Association?

Kalula nje, i-VATER syndrome iyiqembu leziphambeko zokuzalwa ezenzeka ekuqaleni kokukhula komntwana. Ngokukhethekile, lezi zinkinga zenzeka phakathi namasonto ambalwa okuqala okukhula kombungu womntwana. Lesi simo singahluka kusuka komntwana kuya komntwana. Akuwona wonke umntwana ozoba nezimpawu ezifanayo. Odokotela basola lesi simo uma kunenkinga okungenani ngezitho zomzimba ezintathu ezivame ukumelwa izinhlamvu ze-VATER.

Zimelelani lezi zinhlamvu i-VATER / VACTERL?

Empeleni lokhu kuyisifinyezo. Okusho ukuthi, igama elakhiwe ngokuhlanganisa izinhlamvu zokuqala zamagama esiNgisi ezingxenye zomzimba ezithintekile yilesi simo. Ekuqaleni lalibizwa ngokuthi i-VATER:

• V - Ama-vertebrae : Lokhu kubhekisela emathanjeni amancane (ama-vertebrae) emgogodleni .
• A - Indunu : Lokho kusho indunu .
• I-T - Trachea : Lokho kusho umphimbo womoya .
• E - Esophagus : Lokho kusho ipayipi lokudla.
• R - Izinso : Lokhu kusho izinkinga zezinso .

Kamuva, njengoba izinkinga kwezinye izingxenye ezimbili zomzimba zingabonakala ngalesi simo, isifinyezo sandiswa kancane saba yi-VACTERL:

• C - Inhliziyo : Lokhu kusho izinkinga ezihlobene nenhliziyo .
• L - Izitho Zomzimba : Lokhu kubhekisela ezinkingeni ezihlobene nezitho zomzimba (ikakhulukazi ithambo eliseceleni kozwane olukhulu).

Uyaqonda ukuthi kusho ukuthini i-VACTERL? Lesi simo siwukuthi izingxenye eziningana zalezi zinezinkinga ezithile ngesikhathi esisodwa.

Ubani ongathinteka yilesi simo se-VACTERL?

I-VACTERL ingathinta noma ubani. Akuyona ifa. Lokhu kusho ukuthi ivame ukuthinta ilungu elilodwa lomndeni kuphela. Nakuba imbangela eqondile ingakaziwa okwamanje, kukholakala ukuthi ibangelwa ukuhlanganiswa kwamathonya ezakhi zofuzo kanye nezici zemvelo ngesikhathi sokukhulelwa.

Ngokuphathelene nokuthi lesi simo sivame kangakanani, sithinta cishe ingane eyodwa kweziyi-10,000 kuya kweziyi-40,000 ezisanda kuzalwa. Kodwa-ke, leli nani lingase libe phezulu ngoba ezinye izingane zinezimpawu ezicashile kakhulu, noma izimpawu ezimbalwa kuphela.

Ziyini izimpawu ze-VACTERL syndrome?

Izimpawu zibonakala kakhulu ezingxenyeni zomzimba ezimelelwa izinhlamvu ze-VACTERL esikhulume ngazo ngaphambili. Ezinye zalezi zimpawu zibonakala ekuzalweni (ezazalwa nazo) , kanti ezinye zingase zivele kamuva. Lezi zimpawu zingahluka kakhulu kusuka enganeni eyodwa kuya kwenye. Manje ake sibheke ngayinye yalezi zingxenye maqondana nengxenye ngayinye.

Izinkinga Zomgogodla (Ama-vertebrae)

Umgogodla uyingxenye ebaluleke kakhulu yomzimba wethu. Ku-VACTERL, kungase kube nezinguquko ezithile endleleni lomgogodla okhula ngayo.

• Ukugoba komgogodla ohlangothini olulodwa ( i-scoliosis ).
• Ukwakheka kabi kwethambo lomgogodla (umgogodla) (isb., i-hemivertebrae , ithambo lomgogodla elihlanganisiwe ).
• Ukulahlekelwa yithambo lomsila.
• Ukungahambi kahle kwezimbambo (izimbambo ezingekho, ukuba nombambo owengeziwe, izimbambo ezinamathele ndawonye noma ezihlukene).

Cabanga ukuthi into efana nale ingathinta kanjani ukuma kwengane kanye nokunyakaza kwayo uma kwenzeka emgogodleni.

Izinkinga Zokuhluza (i-Anus)

Ezinye izingane ezinalesi simo kungenzeka zingenayo i-anus ephelele. Lokhu kusho ukuthi imbobo okuphuma kuyo indle ingaba ncane kakhulu noma isendaweni engafanele. Lokhu kubizwa nangokuthi i-anal atresia . Lokhu kwenza kube nzima ngengane ukuthi iphume indle.

Izinkinga zenhliziyo

Izinkinga zenhliziyo zingaba zimbi kakhulu. Ku-VACTERL, kungaba nezinkinga ezahlukahlukene ngendlela inhliziyo eyakhiwe ngayo nendlela esebenza ngayo.

• Imithambo yegazi emikhulu (i-aorta kanye nomthambo wamaphaphu) iyasuswa.
• Izimbobo phakathi kwe-atria yenhliziyo ( i-atrial septal defects (ASD) ).
• Ukushaya kwenhliziyo okusheshayo ( i-tachycardia ).
• Ukwehluleka kwenhliziyo .
• Ukungathuthuki kahle kwegumbi lenhliziyo yesobunxele ( i-hypoplastic left heart syndrome ).
• Ukuphefumula okusheshayo kanye/noma ukuqina kwesifuba.
• Izifo zenhliziyo eziyinkimbinkimbi njenge -Tetralogy of Fallot .
• Izimbobo eziphakathi kwamakamelo enhliziyo ( i-ventricular septal defects (VSD) ).

Ezinye zalezi zifo zenhliziyo zingaba yingozi empilweni. Kodwa-ke, ezinye izimbobo, njenge-ASD kanye ne-VSD, zingazivaleka zodwa ngokuhamba kwesikhathi.

Izinkinga ze-Trachea kanye ne-Esophagus

Esinye sezimo ezivame kakhulu ezibonakala ku-VACTERL ukuthi i-trachea kanye ne-esophagus azixhunyiwe lapho kufanele zibe khona (I-Tracheoesophageal fistula. Noma, i-esophagus ayixhumene kahle nesisu ( i-esophageal atresia ). Lokhu kungenxa yokuthi:

• Ubunzima bokuphuza ubisi nokudla.
• Ukutheleleka kwemigudu yokuphefumula (isib. i-pneumonia ).
• Ubunzima bokugwinya.
• Kungase kube nobunzima bokuphefumula.

Cabanga nje, uma kukhona ukungahleleki kahle phakathi kwepayipi lokudla nepayipi lokuphefumula, ukudla neziphuzo kungangena emaphashini, akunjalo? Lokho kuyingozi.

Izinkinga zezinso

Izinkinga zezinso kanye nesistimu yomchamo nazo zingabonakala kulesi simo.

• Indawo engajwayelekile yokuvulwa komchamo (ikakhulukazi kubafana - i- Hypospadias ).
• Izinso ezingakhuli kahle ( i-renal dysplasia ).
• Izinso endaweni engafanele ( i-renal ectopia ).
• Umchamo ogeleza usuka kwesinyeni uye ezinso ( i-vesicoureteral reflux ).
• Ukuqongelela komchamo ezinso ( i-Hydronephrosis ).
• Ukutheleleka njalo komgudu womchamo.

Izinkinga Zezitho Nemisebe

Ku-VACTERL, izinkinga zingabonakala ezithweni, ikakhulukazi ethanjeni eliseceleni kozwane olukhulu lwesandla.

• Ukulahlekelwa okuphelele kwethambo le-radius ( i-radial aplasia ).
• I-radial hypoplasia ( ukungathuthuki kahle kwethambo le-radius).
• Ukulahlekelwa uzwane olukhulu.
• Ukuba nethambo elengeziwe ozwaneni olukhulu (isithupha se-Triphalangeal ).

Ngaphezu kwalokho, izinkinga ezinjengalezi zingabonakala kwezinye izitho zomzimba (ngaphezu kwethambo elise-radius):

• Ukukhubazeka kweqakala ( i-clubfoot ).
• Ukungakwazi ukusebenzisa iminwe ethile kahle, ngoba mincane ( hypoplasia ).
• Ukuba neminwe eyengeziwe ( nge-polydactyly ).
• Ukuhlanganiswa kwamathambo amabili engalo ( i-radioulnar synostosis ).
• Iminwe inamathele ndawonye (njengolwelwesi - ngokuhambisana ne-syndactyly ).

Ezinye izimpawu ezingabonakala ngaphezu kwegama elithi VACTERL

Ngaphezu kwezingxenye eziphinyiselwa ngezinhlamvu ze-VACTERL, ezinye izici zingabonakala nakulezi zingane.

• Ukuma okungajwayelekile kwezindlebe.
• Ukungalingani kwezinhlangothi zombili zobuso.
• Ubunzima bokuphefumula ngekhala ( choanal atresia ).
• Umgogodla ubambeke endaweni eyodwa (umgogodla uboshiwe ).
• Ukukhula kuhamba kancane kunokujwayelekile.
• I-Omphalocele (ukuphuma kwamathumbu ngaphandle komzimba).
• Ukuncishiswa kwebhokisi lezwi/ i-larynx .

Okubalulekile: Akuzona zonke lezi zici ezikhona kuyo yonke ingane. Ezinye izingane zingase zibe nezimbalwa zazo. Futhi, ngisho nesici esifanayo singase sihluke kweyodwa ingane kuneyomunye.

Iyini imbangela yokwakheka kweqoqo le-VACTERL?

Eqinisweni, imbangela eqondile ye-VACTERL syndrome ayikatholakali. Lokhu kusacwaningwa. Kodwa-ke, umbono wamanje uwukuthi lesi simo singase sibangelwe ukuhlanganiswa kwezici eziningana zofuzo kanye nezemvelo ezithinta ukukhula kombungu ngesikhathi sokuqala kokukhulelwa. Okusho ukuthi, kungase kungabi imbangela eyodwa, kodwa kunezimbangela eziningana ndawonye.

Ungayibona kanjani iqoqo le-VACTERL?

I-VACTERL syndrome ivame ukutholakala ngesikhathi sokuhlolwa kokukhulelwa noma ekuqaleni kwempilo. Kodwa-ke, ngezinye izikhathi izimpawu azibonakali kangako, ngakho-ke ingatholakala ebuntwaneni noma ngisho nasebudaleni.

I-VACTERL syndrome "iwukuxilongwa kokukhishwa." Lokhu kusho ukuthi odokotela baqale bakhiphe zonke ezinye izifo nezimo ezingabangela izimpawu ezifanayo. Kuphela uma kungekho kulezi zimo ezitholakalayo lapho bebheka i-VACTERL njengembangela engaba khona.

Udokotela uzoqala enze ukuhlolwa okuphelele ngokomzimba. Lokhu kuzohlola ukukhubazeka kokuzalwa okungenani kwesinye sezitho zomzimba ezibhalwe ngezinhlamvu ze-VACTERL esixoxe ngazo ngaphambili. Ngokuvamile, ingane ene-VACTERL izoba nalezi zinkinga okungenani ezingxenyeni ezintathu zomzimba .

Ngemva kokuhlolwa ngokomzimba, udokotela uzoyala ukuhlolwa okwengeziwe (isib. ama-X-ray , ama-ultrasound , ukuhlolwa kwegazi). Lokhu kwenzelwa ukuthola noma yiziphi izinkinga ezisongela ukuphila, ikakhulukazi lezo zenhliziyo nezinso, ukuze zelashwe ngokushesha.

Yiziphi izindlela zokwelapha i-VACTERL syndrome?

Uma welapha i-VACTERL syndrome, ukugxila okuyinhloko ukunciphisa izimpawu ezibangelwa yilezi ziphazamiso emzimbeni ngesikhathi sokukhulelwa. Izindlela zokwelapha ziyahlukahluka kusuka komunye umntwana kuya komunye. Lokhu kungenxa yokuthi akuzona zonke izingane ezinezinkinga ezifanayo. Izindlela zokwelapha eziyinhloko yilezi:

• Ukuhlinzwa: Kudingeka ukuhlinzwa ukuze kulungiswe lokhu kukhubazeka. Ngezinye izikhathi, lokhu kuhlinzwa kwenziwa zingakapheli izinsuku ezimbalwa ingane izelwe, ngaphambi kokuba kwenzeke izinkinga ezinkulu. Njengoba ingane ikhula, kungase kudingeke ukuhlinzwa okwengeziwe.
• Ukwelashwa ngokomzimba noma ukwelashwa ngokomsebenzi: Lokhu kwelashwa kusiza ukuqinisa imisipha nokuthuthukisa ukunyakaza kwamalunga.
• Imithi: Izinhlobo ezahlukene zemithi zinganikezwa ukulawula nokunciphisa izimpawu.

Unakekela kanjani ingane ene-VACTERL syndrome?

Ukuthola ukuthi ingane yakho ine-VACTERL syndrome kungaba yinto enzima. Kodwa khumbula, awuwedwa. Ingane yakho izodinga ukunakekelwa kwezokwelapha okuqhubekayo kanye nokuqapha ukuze ilawule izimpawu kuyo yonke impilo yayo.

Njengomuntu onakekela ingane, unomthwalo wemfanelo omkhulu.

• Hlala uqaphele impilo nentuthuko yengane yakho. Hlola ukuthi ingane yakho ifinyelela yini izigaba zokukhula ezifanele iminyaka yayo (isib. ukubamba ikhanda, ukugingqika, ukuhlala, ukuhamba).
• Hlala uxhumene nodokotela abelapha ingane yakho. Ingane ene-VACTERL ivame ukudinga usizo lochwepheshe abaningana (isib. udokotela wezingane, udokotela wenhliziyo, udokotela ohlinzayo, udokotela wezinzwa). Gcina ubuhlobo obuhle nabo bonke.
• Eminye imindeni ithola ukwelulekwa ngofuzo kuwusizo kakhulu. Kungabasiza bafunde kabanzi ngesimo sengane yabo, baxoxe ngezindlela zokwelapha, futhi bathole amandla engqondo abawadingayo ukuze babhekane nale nselele.

Ingabe i-VACTERL syndrome ingavinjelwa?

Njengoba imbangela eqondile ye-VACTERL syndrome ingakaziwa okwamanje, ayikho indlela yokuyivimbela. Ucwaningo luyaqhubeka ukuze kutholakale ukuthi yini ebangela lesi simo nokuthi yiziphi izici eziyingozi ezikhona kubazali abasha.

Yiziphi izinto ezilindelekile umuntu onesifo se-VACTERL angaba nazo?

Ngesikhathi sokukhulelwa, khuluma nodokotela wakho ngokuthi wena nomntwana wakho ningahlala kanjani niphilile. Ukuhlolwa kofuzo kanye nokunakekelwa kwangaphambi kokubeletha kungathola ezinye izici ze-VACTERL ngaphambi kokuba umntwana wakho azalwe. Odokotela bangabe sebelungiselela ukuqala ukwelashwa ngokushesha nje lapho umntwana wakho ezalwa.

Ngemva kokuzalwa komntwana, odokotela baqala bahlole ukuze babone ukuthi umntwana uphilile ngokwanele yini ukwelapha noma yiziphi izimpawu ezisongela ukuphila. Ukwelashwa kungadingeka kukho konke ukuphila, njengoba kungase kuvele izimpawu ezintsha noma izimpawu ezindala zingashintsha ngesikhathi sobuntwana kanye nokuthomba.

Akukho ukwelashwa kwe-VACTERL syndrome. Kodwa-ke, ngokwelashwa nokuphathwa okufanele, ingane ingasizwa ukuba iphile impilo enhle.

Kufanele ubonane nini nodokotela?

Uma ingane yakho inezimpawu ze-VACTERL futhi ziphazamisa imisebenzi yayo yansuku zonke noma intuthuko, qiniseka ukuthi ubona udokotela.

Nini ukuya ekamelweni lezimo eziphuthumayo:

• Uma ukushaya kwenhliziyo kwengane kungajwayelekile.
• Uma ungadli ukudla noma ungaphuzi ubisi.
• Uma unenkinga yokuphefumula.
• Uma ungakwazi ukukhipha indle noma ukuchama.

Esimweni esinjengalesi, ungalibali ngisho nakancane.

Yimiphi imibuzo okufanele uyibuze udokotela wakho?

Kuvamile ukuba nemibuzo eminingi uma uthola ngesimo sengane yakho. Ungesabi ukubuza udokotela wakho konke ongakwenza. Nazi ezinye izibonelo:

• Ingabe ingane yami idinga ukuhlinzwa?
• Yimiphi imiphumela emibi yokwelashwa okuncomayo?
• Yini okufanele ngiyenze uma ingane yami ingafinyeleli izigaba zokukhula?
• Ungayinakekela kanjani ingane esanda kuzalwa ngemva kokuhlinzwa?

Ngaphezu kwale mibuzo, buza noma yini onayo engqondweni yakho. Odokotela balapha ukuzokusiza.

Okokugcina, izinto okufanele uzikhumbule

Izinsana zinokukhubazeka okuningana kokuzalwa, ngakho-ke kuvamile ukuzizwa ucindezelekile lapho uthola ukuthi ngeke ukwazi ukuyisa ingane yakho ekhaya maduze. Kodwa khumbula, ithimba lodokotela abangochwepheshe lizokwenza konke okusemandleni alo ukunikeza ingane yakho ukwelashwa okudingekayo futhi liqede noma yiziphi izimpawu ezingaba yingozi empilweni.

Abazali abaningi nabanakekeli bathola induduzo enkulu nolwazi ezinkonzweni ezifana nokwelulekwa ngofuzo ngemva kokuxilongwa kwe-VACTERL syndrome. Ngakho-ke, ungangabazi ukufuna usizo kule nsizakalo. Ngokwelashwa okufanele, uthando, nokunakekelwa, ungasiza ingane yakho iphile impilo engcono kakhulu.

I- VATER syndrome, ukuhlangana kwe-VACTERL, ukukhubazeka kokuzalwa, ukukhubazeka kokuzalwa, impilo yengane, impilo yengane, ukukhula kombungu, ukukhubazeka kwamathambo, i-anal atresia, ukukhubazeka kwenhliziyo, i-tracheoesophageal fistula, ukukhubazeka kwezinso, ukukhubazeka kwamalungu, iSri Lanka