Prader-Willi Syndrome

Chromosome 15 Dambudziko

Prader-Willi syndrome inokonzerwa nechirwere chinokonzera chromosome 15. Ichi chirwere chisingaoneki chiripo pakuberekwa chinokonzera zvinetso zvepanyama, zvepfungwa, uye zvetsika. Chimwe chinhu chinokosha chePerder-Willi syndrome inogara ichinzwa nzara iyo inowanzotanga pamakore anenge maviri.

Vanhu vane Prader-Willi syndrome vanoda kudya nguva dzose nokuti havazombofi vakazara (hyperphagia) uye kazhinji vane dambudziko rokudzora uremu hwavo.

Zvinetso zvakawanda zvePerder-Willi syndrome zvinokonzerwa nekuderedza.

Kana iwe kana mwana wako paine Prader-Willi syndrome, boka reongorori rinogona kushanda newe kuti urarame zviratidzo, kuderedza dambudziko rekugadzirisa matambudziko, nekuvandudza hupenyu hwehupenyu.

Prader-Willi anowanikwa munenge imwe yevamwe vanhu vane zviuru gumi nezviviri kusvika kune gumi nezviviri, muvakomana nevanasikana, uye kuvanhu vemarudzi ose. Prader-Willi syndrome inowanzoongororwa nechitarisiko uye mafambiro emwana, zvino yakasimbiswa nemamwe mazita ekuongorora maitiro eropa. Kunyange zvazvo zvisingawanzoitiki, Prader-Willi syndrome ndiyo inonyanya kukosha chikonzero chekuneta.

Zviratidzo zvePerder-Willi Syndrome

Pakutanga, mucheche ane Prader-Willi syndrome ichava nedambudziko kukura uye kuwedzerwa (kukundikana kubudirira). Nemhaka yehutachiona husina simba (hypotonia), mucheche haakwanisi kunwa kubva muhombodo uye angada nzira dzakanakisisa dzekudyisa kana tube feedings kusvikira matumbu ake akasimba.

Vana vacheche ne Prader-Willi syndrome vanowanzoita kuti vamwe vana vabudirire.

Pakati pemakore ekutanga 1-6 mwana ane Prader-Willi syndrome anokurumidza kuwedzera kufarira zvokudya uye anotanga kudya. Zvinotendwa kuti mwana ane Prader-Willi haanzwi anzwa azere mushure mekudya, uye angangoramba achidya mabheji.

Vabereki vevana vane chirwere vanowanzoda kuvhara makateti ekicheni uye firiji kuitira kuti mwana asakwanise kuwana zvokudya. Vana vanotora uremu nokukurumidza panguva ino.

Mubairo wekukura Unoderedza

Mukuwedzera pakudyisa, mwana ane Prader-Willi anorega kukura pamutengo wakakwana. Mwana wacho anononoka kuva pfupi nokuda kwezera rake, uye nekuda kwekudya zvakanyanya kunowedzera kuwandisa.

Vana vane Prader-Willi syndrome vane matambudziko endocrine kusanganisira kuderedza kana kusavapo kwepabonde (sex hypomodism) uye kunonoka kana kukura kwekuita zvepabonde zvisina kukwana. Vana vane chirwere vanogonawo kuva nekunonoka kusvika pamwero wekutadza kwepfungwa kana matambudziko okudzidza uye vanogona kunge vane matambudziko ehutano akadai sekunyengera, kumanikidzwa, kusindimara, uye kutsamwa.

Zviso zvakasiyana-siyana zvinowanikwa

Maonero akasiyana-siyana anoratidzawo mwana ane Prader-Willi syndrome. Izvi zvinosanganisira chiso chakamanikana, maziso emuarumondi-mavara, muromo unoita-maduku-duku, muromo wakadzika wepamusoro nemakona ekuderera emuromo, uye matama akazara. Meso omwana anogona kuyambuka (strabismus).

Kurapa kwaPerder-Willi Syndrome

Hapana mushonga we Prader-Willi syndrome. Zvisinei, zvinetso zvepanyama zvinokonzerwa nechirwere zvinogona kutarisirwa. Muhucheche, nzira dzekudya dzakakosha uye mazano anogona kubatsira mwana wacho kukura.

Kurapa kwepanyama uye kurovedza muviri kunobatsira kusimbisa simba nekubatana. Kutarisira hutachiona hwevanhu (Genotropin, Humatrope, Norditropin) kunovandudza musimba mashoma nekukura.

Kurapa kutaura kunogona kubatsira vana vari kumashure mune unyanzvi hwemutauro wavo kuti vabate kune vezera ravo. Dzidzo dzakasiyana nedzidzo uye zvigadzirwa zvinobatsira vana na Prader-Willi kuti vaite zvakakwana.

Sezvo mwana achiri kukura, kudya uye zvinetso zvinorema zvinogona kudzorwa kuburikidza nekudya kwakaringana, kwakadzika-calori, kuongororwa kwekuyera, kunze kwekudya kwezvokudya, uye kushanda kwezuva nezuva.

> Sources:

> Mayo Clinic. Prader-Willi Syndrome

> National Organisation for Rare Disorders. Prader-Willi Syndrome.

> Prader-Willi Syndrome Association (USA). Inowanzobvunzwa Mibvunzo Nezve Prader-Willi Syndrome.

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