I-Chromosome 15 Ingxaki
I-Prader-Willi isifo sinokubangelwa yi- genetic disorder ye-chromosome 15. Yisifo esingaqhelekanga esivela ekuzalweni esibangela iingxaki ezinokwenyama, ngengqondo nangendlela yokuziphatha. Inxalenye ephambili ye-Prader-Willi syndrome yinto ehlala elambileyo edla ngokuqala malunga neminyaka emi-2 ubudala.
Abantu abane-Prader-Willi syndrome bafuna ukutya rhoqo ngenxa yokuba abazange bazive begcwele (hyperphagia) kwaye baninzi banenkathazo yokulawula ubunzima babo.
Unengxaki ezininzi ze-Prader-Willi syndrome zibangelwa ukunyanya.
Ukuba wena okanye umntwana wakho une Prader-Willi syndrome, iqela leengcali lingasebenza nawe ukulawula iimpawu, ukunciphisa umngcipheko wokuba neengxaki, nokuphucula umgangatho wobomi.
Prader-Willi uvela malunga nenye yee-12 000 ukuya ku-15 000 abantu, kumabini namantombazana, nakubantu bazo zonke iintlanga. I-Prader-Willi isifo sivame ukufunyanwa ngumbonakalo kunye nokuziphatha komntwana, kwaye kuqinisekiswe ukuhlolwa kweemfuyo ezikhethekileyo zesampuli segazi. Nangona inqabileyo, i-Prader-Willi isifo sinokubangela ukuba ukhuluphele kakhulu.
Iimpawu zePrader-Willi Syndrome
Ekuqaleni, intsana ene Prader-Willi syndrome iya kuba neengxaki zokukhula nokukhula (ukungaphumeleli ukukhula). Ngenxa yobuthakathaka bemisipha (hypotonia), usana alukwazi ukusela kwibhotile kwaye kunokudinga iindlela zokutya ezikhethekileyo okanye ukuxhaswa kwetyhubhu kuze kube yimizimba yakhe.
Iintsana kunye ne-Prader-Willi syndrome zihlala zibangele abanye abantwana ekuphuhliseni.
Uneminyaka engama-1-6 ubudala umntwana ophethe i-Prader-Willi syndrome ngokukhawuleza eba nomdla omkhulu ekudleni kwaye uqala ukudla ngokutya. Kukholelwa ukuba umntwana kunye noPrader-Willi akaze aziva epheleleyo emva kokutya, kwaye ngokuqinisekileyo uya kudla ukutya.
Abazali bezingane ezine-syndrome kufuneka bafake iikhabhinethi zekhitshi kunye nefriji yokunciphisa ukufikelela komntwana ekudleni. Abantwana bafumana isisindo ngokukhawuleza kule minyaka.
Umlinganiselo woKhula uVimba
Ukongeza kokutya ngokutya, umntwana kunye noPrader-Willi uyeka ukukhula kwinqanaba eliqhelekileyo. Umntwana ngokukhawuleza uba mfutshane ngenxa yobudala bakhe, kwaye ngenxa yokungondli ngokugqithiseleyo kuya kuba nzima kakhulu.
Abantwana abane-Prader-Willi syndrome baneengxaki ze- endocrine kuquka ukucuthwa okanye ukungabikho kwemisebenzi ye-hormone yesini (u-hypogonadism) kunye nokulibaziseka okanye ukuphuculwa kocansi. Abantwana abane-syndrome nabo banokuba neengxaki zokufunda ezingqondweni okanye iingxaki zokufunda kunye nokuba neengxaki zokuziphatha ezifana nokunyaniseka, ukunyanzeliswa, ukunyaniseka, kunye nentlungu.
Ubume obubonakalayo
Iinkalo zobuso eziqhelekileyo zichonga umntwana kunye ne-Prader-Willi syndrome. Ezi ziquka ubuso obuncitshiweyo, amehlo enamehlo e-alimondi, umlomo omncinci, umlomo oqaqambileyo kunye nemigodlo ephahlayo yomlomo, kunye nezihlathi. Amehlo omntwana angawela (intambo).
Unyango lwe Prader-Willi Syndrome
Akukho nonyango ye Prader-Willi syndrome. Nangona kunjalo, iingxaki zomzimba ezibangelwa yisifo ziya kulawulwa. Ngethuba lokusana, iindlela zokutya ezikhethekileyo kunye neifomula zinokunceda umntwana alukhule.
Uphulo lwamaziko kunye noqeqesho lunceda ukuphucula amandla kunye nokulungelelanisa. Ukulawula i-hormone yokukhula komntu (iGenotropin, iHatatrope, i-Norditropin) iphucula ubukhulu besisu kunye nokukhula.
Ulwaphulo lwentetho lunokunceda abantwana abasemva kwizakhono zabo zoLwimi ukufumana abo ontanga. Iinkonzo zemfundo ezizodwa kunye neenkxaso zinceda abantwana kunye noPrader-Willi ukufezekisa amandla abo.
Njengoko umntwana ekhula, ukutya kunye neengxaki zesisindo kunokulawulwa ngokutya okunokulinganisela, okuphantsi kweekhalori, ukubeka esweni, ukukhawulelwa kokutya, kunye nokusetyenziswa kwansuku zonke.
> Imithombo:
> Clinical Mayo. Prader-Willi Syndrome
> I-National Organisation for Disorder Disorders. Prader-Willi Syndrome.
> I-Prader-Willi Syndrome Association (USA). Imibuzo ebuzwa rhoqo malunga ne Prader-Willi Syndrome.
> Scheimann, A. (2006). Prader-Willi Syndrome. eMedicine.