Prader-Willi Syndrome

Chromosome 15 Matenda

Matenda a Prader-Willi amayamba chifukwa cha matenda a chromosome 15. Ndi matenda omwe sapezekapo pakabereka omwe amachititsa mavuto, thupi, maganizo ndi khalidwe. Chinthu chachikulu cha Prader-Willi matenda ndi njala nthawi zambiri yomwe imayamba pafupifupi zaka ziwiri.

Anthu omwe ali ndi matenda a Prader-Willi amafuna kudya nthawi zonse chifukwa samamva kuti ndi odzaza (hyperphagia) ndipo nthawi zambiri amakumana ndi vuto lolemera.

Zovuta zambiri za Prader-Willi matenda zimabwera chifukwa cha kunenepa kwambiri.

Ngati inu kapena mwana wanu muli Prader-Willi syndrome, gulu la akatswiri lingagwire ntchito ndi inu kuti liziyang'anira zizindikiro, kuchepetsa chiopsezo chokhala ndi mavuto, ndikupangitsa kukhala ndi moyo wabwino.

Prader-Willi amapezeka pafupifupi mmodzi mwa anthu 12,000 mpaka 15,000, mwa anyamata ndi atsikana, komanso m'mitundu yonse. Matenda a prader-Willi amapezeka ndi maonekedwe ndi khalidwe la mwana, kenaka amatsimikiziridwa ndi mayeso apadera a kuyesa kwa magazi. Ngakhale kuti matendawa ndi osowa, Prader-Willi ndi amene amachititsa kuti munthu azilemera kwambiri.

Zizindikiro za Prader-Willi Syndrome

Poyamba, mwana wakhanda amene ali ndi matenda a Prader-Willi adzakhala ndi vuto lokula komanso kulemera (kusapitilira). Chifukwa cha mitsempha yofooka (hypotonia), khanda sangathe kumwa kuchokera mu botolo ndipo amafunikira njira zamadyedwe apadera kapena zakudya zamatope mpaka minofu yake ikhale yolimba.

Ana omwe ali ndi matenda a Prader-Willi nthawi zambiri amachititsa ana ena kukula.

Pakati pa zaka zapakati pa 1-6, mwana yemwe ali ndi matenda a Prader-Willi amayamba chidwi kwambiri ndi chakudya ndikuyamba kudya. Amakhulupirira kuti mwana yemwe ali ndi Prader-Willi samamva bwino atadya, ndipo amatha kudya mabingowo.

Makolo a ana omwe ali ndi matenda nthawi zambiri amayenera kubisa makabati ophikira ku khitchini ndi firiji kuti asamalowetse mwanayo chakudya. Ana amalemera mofulumira pa msinkhu uno.

Mlingo wa Kukula Umachepetsa

Kuwonjezera pa kudya kwambiri, mwanayo ndi Prader-Willi amasiya kukula pamtunda. Mwanayo amakhala wochepetseka kwa msinkhu wake, ndipo chifukwa cha kudya kwambiri kumakula kwambiri.

Ana omwe ali ndi matenda a Prader-Willi ali ndi mavuto otchedwa endocrine kuphatikizapo kuchepa kapena kusakhala kosaoneka kwa mahomoni ogonana (hypogonadism) ndi kuchedwa kapena kusakwanira kukula kwa kugonana. Ana omwe ali ndi matenda angakhalenso ndi vuto la maganizo ochepa kapena lodziƔika bwino kapena amatha kukhala ndi mavuto monga makhalidwe, kukakamiza, kuuma, ndi kupsa mtima.

Maonekedwe osiyana amakhala

Maso amodzi amadziwikiranso mwana yemwe ali ndi matenda a Prader-Willi. Izi zimaphatikizapo nkhope yopapatiza, maso a maluwa a amondi, kamvekedwe kakang'ono, mkamwa wolemera kwambiri ndi makomo othamanga pakamwa, ndi masaya onse. Maso a mwanayo angadutse (strabismus).

Chithandizo cha Prader-Willi Syndrome

Palibe mankhwala a Prader-Willi matenda. Komabe, mavuto omwe amayamba chifukwa cha matendawa amatha kuyendetsedwa. Kuyambira ali wakhanda, njira zamakono zopatsa ndi njira zingathandize mwanayo kukula.

Kuchepetsa thupi ndi kuchita masewera olimbitsa thupi kumathandiza kulimbitsa mphamvu ndi kugwirizana. Kusamalira hormone ya kukula kwa anthu (Genotropin, Humatrope, Norditropin) imathandiza minofu ndi kukula.

Thandizo la kulankhula lingathandize ana omwe ali kumbuyo kwa chilankhulo chawo kuti apeze anzawo. Maphunziro ndi zothandizira zapadera zimathandiza ana a Prader-Willi kukwaniritsa zonse zomwe angathe.

Pamene mwana akukula, kudya ndi kulemera zimatha kuyendetsedwa kudzera mu zakudya zolimbitsa thupi, zochepetsetsa kulemera, zakudya zowonongeka kunja, ndi kuchita masewera olimbitsa thupi tsiku ndi tsiku.

> Zotsatira:

> Chipatala cha Mayo. Prader-Willi Syndrome

> Bungwe la National for Disturbances Rare. Prader-Willi Syndrome.

> Prader-Willi Syndrome Association (USA). Mafunso Ofunsidwa Kawirikawiri Ponena za Prader-Willi Syndrome.

> Scheimann, A. (2006). Prader-Willi Syndrome. eMedicine.