Prader-Willi chirwere

Prader-Willi chirwere chirwere chiripo kubva pakuberekwa (kuberekwa). Inobata mativi mazhinji emuviri. Vanhu vane chirwere ichi vanonzwa nzara nguva dzose uye vanova vakafuta. Ivo zvakare vane yakashata tsandanyama toni, yakaderedzwa kugona kwepfungwa, uye zvisina kukura bonde nhengo

Prader-Willi urwere hunokonzerwa neakashayikwa majini pachromosome 15. Kazhinji, vabereki mumwe nemumwe anoderedza kopi yechromosome iyi. Iko kukanganisa kunogona kuitika nenzira dzinoverengeka:

• Magen'a ababa haapo pane chromosome 15
• Kune hurema kana matambudziko nemajini ababa pane chromosome 15
• Kune makopi maviri echromosome yaamai 15 uye hapana kubva kuna baba

Aya magene ekuchinja anoitika zvisina kujairika. Vanhu vane chirwere ichi kazhinji havana nhoroondo yemhuri yemamiriro acho.

Zviratidzo zvePrader-Willi chirwere chinogona kuonekwa pakuzvarwa.

• Vacheche vanowanzo kuve vadiki uye floppy
• Vacheche vacheche vanogona kunge vaine machende asina kukodzera

Zvimwe zviratidzo zvinogona kusanganisira:

• Dambudziko rekudyisa semucheche, nehuremu huremu hwekuwedzera
• Almond-akaumbwa maziso
• Kunonoka kusimudzira mota
• Musoro wakamanikana patembere
• Kukurumidza kuwedzera uremu
• Pfupi chimiro
• Kunonoka kukura kwepfungwa
• Maoko mashoma kwazvo netsoka pakuenzanisa nemuviri wemwana

Vana vane chishuwo chakasimba chekudya. Vachaita chero chinhu kuwana chikafu, kusanganisira kuunganidza. Izvi zvinogona kukonzera kukurumidza kuwedzera uremu uye kufutisa kwekutyisa. Kufuta zvakanyanya kunogona kutungamira ku:

• Nyora 2 chirwere cheshuga
• Kuwedzera kweropa
• Matambudziko akabatana nemapapu

Genetic kuyedza kunowanikwa kuyedza vana kwePrader-Willi syndrome.

Sezvo mwana anokura, bvunzo bvunzo dzinogona kuratidza zviratidzo zvekufutisa kwekutyisa, senge:

• Kusagadzikana glucose kushivirira
• Yakakwira insulin mwero muropa
• Oxygen yakadzika muropa

Vana vane chirwere ichi vanogona kusapindura kune luteinizing hormone-inosunungura chinhu. Ichi chiratidzo chekuti nhengo yavo yebonde haisi kuburitsa mahormone. Ikoko zvakare kunogona kuve nezviratidzo zvekurudyi-sided moyo kutadza uye mabvi nehudyu matambudziko.

Kufutisa ndiyo ngozi huru kuhutano. Kukamura macalorie kunodzora huremu kuwedzera. Zvakakoshawo kudzora nharaunda yemwana kudzivirira kuwana chikafu. Mhuri yemwana, vavakidzani, uye chikoro zvinofanirwa kushanda pamwechete, nekuti mwana anoedza kuwana chikafu pese pazvinogoneka. Kurovedza muviri kunogona kubatsira mwana ane Prader-Willi syndrome kuwana mhasuru.

Kukura kwehomoni kunoshandiswa kurapa Prader-Willi syndrome. Inogona kubatsira:

• Vaka simba uye agility
• Vandudza kukwirira
• Wedzera mhasuru uye udzikise mafuta emuviri
• Kuvandudza kugoverwa kwekurema
• Wedzera simba
• Wedzera kuwedzera kwemapfupa

Kutora kukura kwehomoni kurapwa kunogona kutungamira kurara kufema. Mwana anotora kurapwa kwehomoni anoda kuongororwa kuti apnea hope.

Iwo mashoma ezinga rehomoni yebonde anogona kugadziriswa panguva yekuyaruka nekugadziriswa kwehomoni.

Utano hwepfungwa uye maitiro ekuzvibata akakoshawo. Izvi zvinogona kubatsira nezvinetso zvakajairika senge kunhonga ganda uye nekumanikidza maitiro. Dzimwe nguva, mushonga ungangodiwa.

Masangano anotevera anogona kupa zviwanikwa nerutsigiro:

• Prader-Willi Syndrome Association - www.pwsausa.org
• Nheyo yePrader-Willi Tsvagiridzo - www.fpwr.org

Mwana achazoda dzidzo chaiyo yeiyo IQ yavo nhanho. Mwana anozodawo matauriro, epanyama, uye ekurapwa kwekutanga nekukurumidza sezvazvinogona Kudzora huremu kunozobvumidza hupenyu hwakagwinya uye hune hutano.

Zvinetso zvePrader-Willi zvinogona kusanganisira:

• Nyora 2 chirwere cheshuga
• Kurudyi-mativi emoyo kukundikana
• Bone (orthopedic) matambudziko

Fonera wako mupi wezvehutano kana mwana wako aine zviratidzo zveichi chiitiko. Dambudziko racho rinowanzo fungidzirwa pakuzvarwa.

Cooke DW, DiVall SA, Radovick S. Zvakajairwa uye zvinokanganisa kukura muvana. MuMelmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ eds. Williams Chinyorwa cheEndocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020: chitsiko 25.

Escobar O, Viswanathan P, Witchel SF. Pediatric endocrinology. Mune: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. Zitelli naDavis 'Atlas yePediatric Kuziva. 7th ed. Philadelphia, PA: Elsevier; 2018: chits. 9.

Kumar V, Abbas AK, Aster JC. Genetic uye chirwere chevana. Mune: Kumar V, Abbas AK, Aster JC, eds. Robbins Basic Pathology. 10th ed. Philadelphia, PA: Elsevier; 2018: chits. 7.