Isifo esiyingozi esithintela iinkqubo ezininzi
I-Costello syndrome yisifo esingavamile kakhulu esichaphazela iinkqubo ezininzi zomzimba, ezibangela ukuqina okufutshane, iimpawu zobuso, ukukhula okujikelezayo ekhaleni nasemlonyeni, kunye neengxaki zentliziyo. Isizathu se-Costello syndrome asiyazi, nangona ukuguqulwa komzimba kukhankanywa. Abaphandi ngo-2005 kwiSibhedlele saseDuPont kubantwana baseDelaware (i-US) bafumene utshintsho lwezakhi kwi-HRAS ngokulandelelana babekho kwi-82.5% yabantu abangama-40 abane-Costello syndrome ababeyifunde.
Iingxelo eziyi-150 ze-Costello syndrome ziye zapapashwa kwincwadi yoncedo lwezokwelapha, ngoko akucaci ukuba kaninzi kangakanani i-syndrome eyenzeka okanye ngubani ochaphazelekayo.
Iimpawu
Izimpawu eziqhelekileyo ze-Costello syndrome zi:
- ubunzima bokufumana ubunzima kunye nokukhula emva kokuzalwa, okukhokelela kwisigqi esifutshane
- isikhumba esikhululekile entanyeni, iintendelezo zezandla, iminwe, kunye neenyawo zeenyawo (cutis laxa)
- Ukukhula okungakhange kunomdlavuza (papillomata) emlonyeni nasemakhaleni
- Ukubonakala kwimibala ebonakalayo njengentloko enkulu, iindlebe ezisezantsi ezikhulu, i-lobes eninzi, umlomo oqatha, kunye / okanye amanqabana amaninzi
- ukulibala kwengqondo
- ikhuni isikhumba esomileyo kwizandla kunye neenyawo okanye iingalo nemilenze (hyperkeratosis)
- izihlanganisi ezingaqhelekanga zengalo.
Abanye abantu banokuthi banqande ukuhamba kwinqanaba okanye ukuqiniswa kwethenda kwi-back of the ankle. Abantu abane-Costello syndrome banokukhubazeka kwentliziyo okanye isifo senhliziyo (isifo se-cardiomyopathy).
Kukho iziganeko eziphezulu zokukhula kwesisu, zombini onomdla kunye nonomdlavuza, ezihambelana nesifo.
Ukuxilongwa
Ukuxilongwa kwe-Costello syndrome kusekelwe ekubukeni komntwana ozalwe ngengxaki, kunye nezinye iimpawu ezinokuthi zikhoyo. Uninzi lwabantwana abane-Costello syndrome banenkathalo yokutya, kunye nokukhula nokukhula, ngoko oku kunokubonisa ukuxilongwa.
Kwixesha elizayo, ukuhlolwa kofuzo malunga nokuguqulwa kwesigidi esaziwayo kunye ne-Costello syndrome kunokusetyenziswa ukuqinisekisa ukuxilongwa.
Unyango
Akukho nonyango oluthile lwe-Costello syndrome, ngoko ke unyango lujolise kwiimpawu kunye neengxaki ezikhoyo. Kunconywa ukuba bonke abantu abane-Costello syndrome bafumane ukuhlolwa kweengqondo ukujonga iimpembelelo zentliziyo kunye / okanye isifo senhliziyo. Uphulo lomzimba kunye nolwasemsebenzini lunokunceda umntu afikelele ekuphuculeni kwakhe. Ukubeka esweni ixesha elide ukukhula komzimba, umgudu okanye iingxaki zomzimba, kunye nentliziyo okanye utshintsho lwegazi lubalulekile. Ubomi bomntu kunye ne-Costello syndrome kuya kutshitshiswa ngobungqina beengxaki zentliziyo okanye iisifo zomhlaza , ngoko ke ukuba unempilo, abantu abane-syndrome banokuphila ngokuqhelekileyo.
> Imithombo:
> Costello Kids. Malunga ne-Costello syndrome.
> Gripp, KW, et al. (2005). Uhlalutyo lwenguqu lwe-HRAS kwi-Costello syndrome: i-Genotype kunye ne-phenotype. I-American Journal ye-Medical Genetics.
> Lin, AE, et al. (2002). Ukucaciswa okuqhubekayo kweengqondo ezingaqhelekanga kwi-Costello syndrome. I-American Journal of Medical Genetics, 111 (2), iphe. 115-129.
> Moroni, I., et al. (2000). I-Costello syndrome: Umhlaza osisigxina se-syndrome? I-Clinic Dysmorphol, 9 (4), iphe. 265-268.
> I-National Organisation for Disorder Disorders. Costello Syndrome.
> Pascual-Castroviego, I., et al. (2005). I-Costello syndrome: Ukunikezelwa kwetyala ngokulandelwa kweminyaka engama-35. I-neurologia, 20 (3), iphe. 144-148.