Yintoni iVATER Syndrome?

Umxholo

• Ushwankathelo
• Ibangelwa yintoni?
• Ziintoni iimpawu?
• Iziphene ze-Vertebral
• Iziphene zomzimba
• Iziphene zentliziyo
• I-fistula yetracheoesophageal
• Iziphene zezintso
• Iziphene zomlenze
• Ezinye iimpawu
• Kufunyaniswa njani?
• Zithini iindlela zokhetho zonyango?
• Imbonakalo

Ushwankathelo

I-VATER syndrome, edla ngokubizwa ngokuba ngumbutho weVATER, liqela leziphene zokuzalwa ezidla ngokwenzeka kunye. IVATER sisifinyezo.Unobumba ngamnye umele ilungu lomzimba ochaphazelekayo:

• amathambo omqolo (amathambo omqolo)
• ezimpundu
• i-tracheoesophageal (i-trachea kunye ne-esophagus)
• intso (izintso)

Umbutho ubizwa ngokuba yi-VACTERL ukuba intliziyo (intliziyo) kunye nemilenze iyachaphazeleka. Njengoko oku kuhlala kunjalo, i-VACTERL ihlala iligama elichanekileyo.

Ukufumanisa ukuba une-VATER okanye umbutho we-VACTERL, umntwana kufuneka abe neziphene zokuzalwa ubuncinci kwezi ndawo zintathu.

Umbutho weVATER / VACTERL unqabile. Uqikelelo lwe-1 kwizo zonke i-10,000 ukuya kwi-40,000 yeentsana ezizelwe kunye neli qela leemeko.

Ibangelwa yintoni?

Oogqirha abazi ngqo ukuba yintoni ebangela umbutho weVATER. Bakholelwa ukuba iziphene zenzeka kwangethuba xa ukhulelwe.

Ukudityaniswa kwemfuza kunye nezinto zokusingqongileyo zinokubandakanyeka. Akukho luhlobo lunye luchongiweyo, kodwa abaphandi bafumanise ukungaqheleki kwe-chromosomal kunye notshintsho kwimfuza (enxulumene) nemeko. Ngamanye amaxesha ngaphezulu komntu omnye kusapho olunye baya kuchaphazeleka.

Ziintoni iimpawu?

Iimpawu zixhomekeke kwiziphene umntwana anazo.

Iziphene ze-Vertebral

Ukuya kuthi ga kwiipesenti ezingama-80 zabantu abanombutho weVATER baneziphene emathanjeni omqolo (i-vertebrae). Ezi ngxaki zinokubandakanya:

• ulahlekile amathambo emqolo
• amathambo ongezelelweyo kumqolo
• amathambo amile ngokungaqhelekanga
• amathambo ahlanganiswe kunye
• umqolo ogobileyo (scoliosis)
• iimbambo ezongezelelweyo

Iziphene zomzimba

Phakathi kwe-60 kunye ne-90 yepesenti yabantu abanombutho weVATER banengxaki nomngxunya wabo, njenge:

• isigqubuthelo esibhityileyo ngaphezulu kwe-anus esivimba ukuvulwa
• akukho ndlela iphakathi emazantsi emathumbu amakhulu (i-rectum) kunye ne-anus, ngoko isitulo asinakudlula ukusuka emathunjini ngaphandle komzimba

Iingxaki nge-anus zinokubangela iimpawu ezinje:

• isisu esidumbileyo
• ukugabha
• akukho mathumbu, okanye zimbalwa kakhulu iintshukumo zesisu

Iziphene zentliziyo

U "C" kwi-VACTERL umele "intliziyo." Iingxaki zentliziyo zichaphazela iipesenti ezingama-40 ukuya kuma-80 zabantu abanale meko. Oku kunokubandakanya:

• Isiphene se-Ventricular septal (VSD). Lo mngxuma eludongeni owahlulahlula amagumbi asezantsi ekunene nasekhohlo entliziyweni (ii-ventricles).
• Isiphene se-Atrial septal. Kulapho umngxunya eludongeni wahlulahlula amagumbi aphezulu aphezulu entliziyo (atrium).
• Tetralogy yoBuxoki. Olu ludibaniso lweziphene zentliziyo ezine: i-VSD, i-aortic valve eyandisiweyo (i-aorta engaphezulu), ukunciphisa i-valve ye-pulmonary (pulmonary stenosis), kunye nokuqina kwe-ventricle efanelekileyo (i-ventricular hypertrophy).
• Isifo sentliziyo esekho Hypoplastic. Yilapho icala lasekhohlo lentliziyo lingakheki kakuhle, lithintela igazi ukuba lingaphumi entliziyweni.
• Ipatent ductus arteriosus (PDA). I-PDA yenzeka xa kukho ukuvuleka okungaqhelekanga komnye wemithambo yegazi yentliziyo ethintela igazi ukuba liye emiphungeni liyokuthatha ioksijini.
• Ukutshintshwa kwemithambo enkulu. Iingcambu ezimbini eziphambili eziphuma entliziyweni zibuyela umva (zitshintshiwe).

Iimpawu zeengxaki zentliziyo zibandakanya:

• ingxaki yokuphefumla
• ukuqhawukelwa ngumphefumlo
• Umbala oluhlaza okwesibhakabhaka kulusu
• ukudinwa
• isingqisho sentliziyo esingaqhelekanga
• ukukhawuleza kwentliziyo
• ukukrokra kwentliziyo (isandi sokukhala)
• ukungatyi kakuhle
• akukho bunzima

I-fistula yetracheoesophageal

I-fistula liqhagamshelo elingaqhelekanga phakathi kwetrachea (umbhobho womoya) kunye nomqala (ityhubhu ehambisa ukutya ukusuka emlonyeni ukuya esiswini). Ezi zimbini zakhiwo aziqhelekanga zixhunyiwe. Iphazamisa ukutya okudlula emqaleni kuye esiswini, kuphambukise okunye ukutya kuye emiphungeni.

Iimpawu zibandakanya:

• ukuphefumla ukutya kungena emiphungeni
• ukukhohlela okanye ukukrwitsha xa usondla
• ukugabha
• Umbala oluhlaza okwesibhakabhaka kulusu
• ingxaki yokuphefumla
• isisu esidumbileyo
• ukutyeba kakubi

Iziphene zezintso

Phantse iipesenti ezingama-50 zabantu abane-VATER / VACTERL baneziphene zezintso. Oku kunokubandakanya:

• Izintso (ii) ezingalunganga
• izintso kwindawo engafanelekanga
• ukuvalwa komchamo kwizintso
• ukugcinwa komchamo kwisinye ukuya kwizintso

Ukusilela kwezintso kunokubangela ukosuleleka rhoqo kumchamo. Amakhwenkwe nawo anokuba nesiphene apho ukuvulwa kwepenisi yawo emazantsi, endaweni yencam (hypospadias).

Iziphene zomlenze

Ukufikelela kwiipesenti ezingama-70 zeentsana ezine-VACTERL ezineziphene zomzimba. Oku kunokubandakanya:

• oobhontsi abalahlekileyo okanye abaphucukileyo
• iminwe eyongezelelweyo okanye iinzwane (polydactyly)
• iminwe yewebhu okanye iinzwane (syndactyly)
• iingalo ezingaphuhliswanga kakuhle

Ezinye iimpawu

Ezinye, iimpawu ngokubanzi zombutho weVATER zibandakanya:

• ukukhula kancinci
• ukusilela ukutyeba
• Iimpawu zobuso ezingalinganiyo (asymmetry)
• iziphene zendlebe
• iziphene zemiphunga
• iingxaki kwilungu lobufazi okanye lobudoda

Kubalulekile ukuba uqaphele ukuba umbutho weVATER / VACTERL awuchaphazeli ukufunda okanye ukukhula kwengqondo.

Kufunyaniswa njani?

Ngenxa yokuba umbutho weVATER uliqela leemeko, akukho vavanyo lunye onokulufumanisa. Oogqirha bahlala besenza isifo ngokujonga iimpawu kunye neempawu zeklinikhi. Iintsana ezinayo le meko zine-VATER ezintathu okanye i-VACTERL iziphene. Kubalulekile ukulawula ezinye ii-syndromes zemfuza kunye neemeko ezinokwabelana ngeempawu kunye ne-VATER / VACTERL umbutho.

Zithini iindlela zokhetho zonyango?

Unyango lusekwe ekubeni zeziphi iintlobo zeziphene zokuzalwa ezichaphazelekayo. Utyando lunokulungisa uninzi lweziphene, kubandakanya iingxaki nokuvula ezimpundu, amathambo omqolo, intliziyo kunye nezintso. Amaxesha amaninzi ezi nkqubo zenziwa kwakamsinya emva kokuba umntwana ezelwe.

Ngenxa yokuba umbutho weVATER ubandakanya iinkqubo ezininzi zomzimba, oogqirha abambalwa bayayinyanga, kubandakanya:

• Ingcali yentliziyo (iingxaki zentliziyo)
• i-gastroenterologist (iphecana le-GI)
• ingcali yamathambo (amathambo)
• urologist (izintso, isinyi, kunye nezinye iinxalenye zenkqubo yokuchama)

Abantwana abanombutho weVATER baya kudinga ukubekwa esweni kunye nokunyangwa ubomi babo bonke ukuthintela iingxaki ezizayo. Banokufuna uncedo kwiingcali ezinje ngengcali yonyango kunye nonyango lomsebenzi.

Imbonakalo

Imbonakalo ixhomekeke ekubeni zeziphi iintlobo zeziphene umntu anazo, nendlela ezi ngxaki ziphathwa ngayo. Rhoqo abantu abanombutho we-VACTERL baya kuba neempawu kubo bonke ubomi babo. Kodwa ngonyango olufanelekileyo, banokuphila ubomi obunempilo.