Izimbangela ze-Alagille syndrome nokuthi welashwa kanjani

-Delile

• Izimpawu ezingenzeka
• Izimbangela ze-Alagille syndrome
• Ukuxilongwa kwe-Alagille syndrome
• Ukwelashwa kwesifo se-Alagille

I-Alagille syndrome yisifo esingavamile sofuzo esithinta kakhulu izitho eziningana, ikakhulukazi isibindi nenhliziyo, futhi singabulala. Lesi sifo sibonakala ngokwanele kwemibhobho yenyongo neyesibindi, ngaleyo ndlela siholele ekuqongeleleni inyongo esibindini, esivimbela ukuthi sisebenze ngokujwayelekile ukuqeda imfucuza egazini.

Izimpawu zisabonakala ebuntwaneni, futhi kungenzeka kube yimbangela ye-jaundice ethathe isikhathi eside ezinganeni ezisanda kuzalwa. Kwezinye izimo, izimpawu zingase zinganakwa, zingadali umonakalo omkhulu futhi ezimweni ezinzima kakhulu kungadingeka ukufakelwa izitho ezithintekile.

Izimpawu ezingenzeka

Ngaphezu kokungakwazi ukusebenza kahle kwe-bile, i-Alagille syndrome ibangela izimpawu nezimpawu ezahlukahlukene, njenge:

• Isikhumba esiphuzi;
• Amabala wamehlo;
• Amathambo omgogodla omile njengovemvane;
• Ibunzi eliphumayo, isilevu nekhala;
• Izinkinga zenhliziyo;
• Ukubambezeleka kwentuthuko;
• Ukulunywa okujwayelekile;
• Ukufakwa kwe-cholesterol esikhunjeni;
• I-peripheral pulmonary stenosis;
• Izinguquko zamehlo.

Ngaphezu kwalezi zimpawu, ukwehluleka kwesibindi nakho kungenzeka ngokuqhubekayo, ukungahleleki kwenhliziyo nezinso. Ngokuvamile, lesi sifo siyazinza phakathi kweminyaka engu-4 nengu-10 ubudala, kodwa lapho kukhona ukwehluleka kwesibindi noma ukulimala kwenhliziyo, ingozi yokufa inkulu.

Izimbangela ze-Alagille syndrome

I-Alagille syndrome yisifo esibusa i-autosomal, okusho ukuthi uma omunye wabazali bengane enale nkinga, ingane inamathuba amaningi okuba nalesi sifo ngama-50%. Kodwa-ke, ukuguquka komzimba kungenzeka nasenganeni, noma ngabe bobabili abazali banempilo.

Lesi sifo sibangelwa ngenxa yezinguquko noma ukuguqulwa kokulandelana kwe-DNA okufaka isakhi esithile, esiku-chromosome 20, esibhekele ukusebenza okujwayelekile kwesibindi, inhliziyo nezinye izitho, kubangele ukuthi zingasebenzi ngokujwayelekile.

Ukuxilongwa kwe-Alagille syndrome

Njengoba kubangela izimpawu eziningi, ukuxilongwa kwalesi sifo kungenziwa ngezindlela eziningana, okuvame kakhulu ukuthi kube yi-biopsy yesibindi.

Ukuhlolwa kwezimpawu nezimpawu

Uma isikhumba siphuzi, noma uma kunokungafani kobuso nobuso bomgogodla, izinkinga zenhliziyo nezinso, izinguquko zamehlo, noma ukubambezeleka kokukhula, kungenzeka ukuthi ingane izohlushwa yilesi sifo. Kodwa-ke, zikhona ezinye izindlela zokuxilonga lesi sifo.

Ukulinganisa ukusebenza kwamanyikwe

Ukuhlola kungenziwa ukuhlola ukusebenza kwamanyikwe, ukuthola ukuthi angakanani amafutha amuncwa ukudla okudliwe yingane, ngokuhlaziywa kwendle. Kodwa-ke, kufanele kwenziwe ezinye izivivinyo, ngoba lokhu kuhlolwa kukodwa kungaba yinkomba yezinye izifo.

Ukuhlolwa ngudokotela wenhliziyo

Isazi senhliziyo singathola inkinga yenhliziyo ngokusebenzisa i-echocardiogram, equkethe i-ultrasound yenhliziyo ukubona ukwakheka nokusebenza, noma nge-electrocardiogram elinganisa isigqi senhliziyo.

Ukuhlolwa ngudokotela wamehlo

Udokotela wezifo zamehlo angenza ukuhlolwa kwamehlo okukhethekile ukuze abone noma ikuphi ukungajwayelekile, noma yikuphi ukuphazamiseka esweni noma izinguquko kumbala ku-retina.

Ukuhlolwa kwe-X-ray yomgogodla 

Ukwenza i-X-ray emgogodleni kungasiza ekutholeni amathambo omgogodla esimweni sovemvane, okuyisici esivame kakhulu esihambisana nalesi sifo.

Ukwelashwa kwesifo se-Alagille

Lesi sifo asinalo ikhambi, noma kunjalo, ukwenza ngcono izimpawu nezinga lempilo, kuyelulekwa izidakamizwa ezilawula ukugeleza kwe-bile, njenge-Ursodiol kanye nama-multivitamin anamavithamini A, D, E, K, calcium ne-zinc ukuze kulungiswe ukuswela kokudla okunempilo kwenzeka ngenxa yalesi sifo.

Ezimweni ezinzima kakhulu, kungadingeka ukuthi usebenzise ukuhlinzwa noma ukufakelwa kabusha kwezitho ezifana nesibindi nenhliziyo.