Isiyaluyalu Esiyingozi Esithinta Izinhlelo Eziningi
I-Costello syndrome yisifo esingavamile kakhulu esithinta izinhlelo eziningi zomzimba, okwenza isiqu esifushane, izici zobuso, iziqu ezizungezile emakhaleni nasemlonyeni nasezinkingeni zenhliziyo. Isizathu se-Costello syndrome asikwaziwa, nakuba kubonakala sengathi ukuguqulwa kwezakhi zofuzo. Abacwaningi ngo-2005 esibhedlela iDuPont for Children eDelaware (US) bathola ukuguqulwa kwezakhi zofuzo ekulandeleni kwe-HRAS babekhona ku-82.5% wabantu abangu-40 abane-Costello syndrome abayifunde.
Imibiko eyi-Costello syndrome engaba ngu-150 kuphela ishicilelwe ezincwadini zezokwelapha emhlabeni wonke, ngakho-ke akucaci ukuthi kwenzeka kanjani ukuthi i-syndrome ivele yenzeke noma ingase ibe yithinteka kangakanani.
Izimpawu
Izimpawu ezijwayelekile ze-Costello syndrome yizo:
- ubunzima bokuthola isisindo nokukhula emva kokuzalwa, okuholela ekujuleni kwesifushane
- isikhumba esikweqile esikhwameni, izintende zezandla, iminwe, nezinyawo ezinyaweni (cutis laxa)
- ukukhula okungenayo umdlavuza (papillomata) emlonyeni nasemakhaleni
- ukubonakala kobukeka obunjengobunhloko obukhulu, izindlebe ezisezingeni eliphansi nge-lobes ezinkulu, obukhulu, izindebe ezinzima, kanye / noma amacici amakhulu
- ukuphuza kwengqondo
- isikhumba esinyene, esomile ezandleni nasezinyaweni noma ezinyaweni nasemilenzeni (hyperkeratosis)
- izingxube ezingavamile eziguquguqukayo zeminwe.
Abanye abantu bangase babe nemingcele yokunyakaza emigqeni noma ukuqina kwetendon ngemuva kwesikhumba. Abantu abane-Costello syndrome bangase babe nezinkinga zenhliziyo noma isifo senhliziyo (isifo senhliziyo).
Kukhona ukukhubazeka okuphezulu kokukhula kwe-tumor, kokubili umdlavuza futhi ongeyena umdlavuza, ohambisana nesifo kanjalo.
Ukuxilongwa
Ukuxilongwa kwe-Costello syndrome kusekelwe ekubukeni komntwana ozalwa onesifo, kanye nezinye izimpawu ezingase zibe khona. Iningi lezingane ezine-Costello syndrome zinezinkinga zokudla, kanye nokuthola isisindo nokukhula, ngakho lokhu kungase kusiphakamise ukuxilongwa.
Esikhathini esizayo, ukuhlolwa kwezakhi zofuzo eziguqulwa izakhi zofuzo ezihlobene ne-Costello syndrome kungase kusetshenziselwe ukuqinisekisa ukuxilongwa.
Ukwelapha
Ayikho ukwelashwa okuqondile kwe-Costello syndrome, ngakho ukunakekelwa kwezokwelapha kugxile ezimpawu nasezinkingeni ezikhona. Kunconywa ukuthi bonke abantu abane-Costello syndrome bathole ukuhlolwa kwezinhliziyo ukuze babheke ukukhubazeka kwenhliziyo kanye / noma isifo senhliziyo. Ukwelapha ngokomzimba kanye nokusebenza kungasiza umuntu ukuba afinyelele amandla akhe okuthuthukiswa. Ukuqapha kwesikhashana isikhathi sokukhula kwe-tumor, umgogodla noma izinkinga ze-orthopedic, futhi izinguquko zenhliziyo noma yegazi zibalulekile. Ukuphila komunye umuntu nge-Costello syndrome kuzothonywa ukungena kwezinkinga zenhliziyo noma izicubu zomdlavuza , ngakho-ke uma ngabe unempilo, abantu abanesifo bangaba nempilo evamile.
> Imithombo:
> Costello Kids. Mayelana ne-Costello syndrome.
> Gripp, KW, et al. (2005). Ukuhlaziywa komzimba ka-HRAS ku-Costello syndrome: I-Genotype ne-phenotype correlation. I-American Journal of Medical Genetics.
> Lin, AE, et al. (2002). Ukucaciswa okuqhubekayo kokukhubazeka kwenhliziyo ku-Costello syndrome. I-American Journal of Medical Genetics, 111 (2), iphe. 115-129.
> Moroni, I., et al. (2000). I-Costello syndrome: Umdlavuza we-cancer predisposing syndrome? I-Clin Dysmorphol, 9 (4), iphe. 265-268.
> Inhlangano Kazwelonke Yezinkinga Ezinzima. I-Costello Syndrome.
> Pascual-Castroviego, I., et al. (2005). I-Costello syndrome: Ukunikezwa kwecala ngokulandelwa kweminyaka engu-35. I-Neurologia, 20 (3), iphe. 144-148.