Isifo sikaPrader-Willi

Isifo i-Prader-Willi sisifo esivela kwasekuzalweni (kokuzalwa). Ichaphazela amalungu amaninzi omzimba. Abantu abakule meko baziva belambile ngalo lonke ixesha kwaye batyebe kakhulu. Banethoni yemisipha ephantsi, ukunciphisa amandla engqondo, kunye nezitho zesini ezingaphuhlanga.

Isifo i-Prader-Willi sibangelwa yimizila yemfuza elahlekileyo kwi-chromosome 15. Ngokuqhelekileyo, abazali badlulisa ikopi yale chromosome. Isiphene sinokubakho ngeendlela ngeendlela:

• Imfuza katata ilahlekile kwi-chromosome 15
• Kukho iziphene okanye iingxaki kwimfuza katata kwi-chromosome 15
• Zimbini iikopi ze-chromosome kamama ezili-15 kwaye akukho nanye evela kutata

Olu tshintsho lwemfuza lwenzeka ngokungacwangciswanga. Abantu abanesi sifo bahlala bengenayo imbali yosapho.

Iimpawu zePrader-Willi syndrome zinokubonwa xa kuzalwa.

• Iintsana zihlala zincinci kwaye ziyi-floppy
• Iintsana ezingamadoda zinokuba namatyhalarha angafanelekanga

Ezinye iimpawu zingabandakanya:

• Ingxaki yokondla njengosana, ngokufumana ubunzima obuthathaka
• Amehlo amile okweamangile
• Ukulibaziseka kophuhliso lweemoto
• Intloko emxinwa kwiitempile
• Ukufumana ubunzima ngokukhawuleza
• Isiqu esifutshane
• Ukucotha ukukhula kwengqondo
• Izandla neenyawo ezincinci kakhulu xa kuthelekiswa nomzimba womntwana

Abantwana banomnqweno onzulu wokutya. Baza kwenza nantoni na ukufumana ukutya, kubandakanya ukuhombisa. Oku kunokubangela ukutyeba ngokukhawuleza kunye nokutya kakhulu. Ukutyeba okunganyamezelekiyo kunokukhokelela ku:

• Uhlobo lwe-2 yeswekile
• Igazi elonyukayo
• Iingxaki zokudibanisa kunye nemiphunga

Uvavanyo lwe-Genetic luyafumaneka ukuvavanya abantwana kwi-Prader-Willi syndrome.

Njengokuba umntwana ekhula, iimvavanyo zelebhu zingabonakalisa iimpawu zokutyeba kakhulu, njengoku:

• Ukunyamezelana glucose ngokungaqhelekanga
• Inqanaba eliphezulu le-insulin egazini
• Inqanaba leoksijini eliphantsi egazini

Abantwana abanale syndrome abanakuphendula kwi-luteinizing hormone-releasing factor. Olu luphawu lokuba amalungu abo esini awavelisi iihomoni. Kukho kwakhona kunokubonakalisa ukungaphumeleli kwentliziyo emacaleni kunye neengxaki zedolo kunye ne-hip.

Ukutyeba kakhulu sesona sisongelo empilweni. Ukunciphisa umda weekhalori kuya kulawula ukuzuza kobunzima. Kukwabalulekile ukulawula imeko-bume yomntwana ukuthintela ukufikelela ekutyeni. Usapho lomntwana, abamelwane, kunye nesikolo kufuneka sisebenze kunye, kuba umntwana uya kuzama ukufumana ukutya naphina apho kunokwenzeka. Ukuzivocavoca kunokunceda umntwana onesifo sePrader-Willi ukufumana izihlunu.

Ihomoni yokukhula isetyenziselwa ukunyanga isifo sePrader-Willi. Inokunceda:

• Yakha amandla kunye nokukhawuleza
• Ukuphucula ubude
• Yandisa ubunzima bemisipha kunye nokunciphisa amanqatha omzimba
• Ukuphucula ukuhanjiswa kobunzima
• Yandisa amandla
• Yandisa ukuxinana kwethambo

Ukuthatha unyango lwe-hormone yokukhula kunokukhokelela ekuphefumuleni i-apnea. Umntwana othatha unyango lwehomoni kufuneka abekwe iliso kwi-apnea yokulala.

Amanqanaba asezantsi amahomoni esini anokulungiswa xa ufikisa kunye nokutshintshwa kwehomoni.

Impilo yengqondo kunye neengcebiso malunga nokuziphatha zibalulekile. Oku kunokunceda kwiingxaki eziqhelekileyo njengokucholwa kolusu kunye nokuziphatha okunyanzelekileyo. Ngamanye amaxesha, amayeza anokufuneka.

Le mibutho ilandelayo inokubonelela ngezixhobo nenkxaso:

• Umbutho wePrader-Willi Syndrome - www.pwsausa.org
• Isiseko soPhando lwePrader-Willi - www.fpwr.org

Umntwana uyakufuna imfundo efanelekileyo kwinqanaba lakhe le-IQ. Umntwana uya kufuna intetho, eyomzimba kunye neyonyango kwangoko. Ukulawula ubunzima kuya kuvumela ubomi obutofotofo ngakumbi nobusempilweni.

Iingxaki zikaPrader-Willi zinokubandakanya:

• Uhlobo lwe-2 yeswekile
• Ukusilela kwentliziyo esekunene
• Iingxaki zamathambo (zamathambo)

Fowunela umboneleli wakho wezempilo ukuba umntwana wakho uneempawu zale meko. Esi sifo sihlala sikhankanywa xa kuzalwa.

UCooke DW, uDiVall SA, uRadovick S. Ukukhula kwesiqhelo kunye nokuchasana kwabantwana. KwiMelmed S, iAuchus RJ, iGoldfine AB, iKoenig RJ, iRosen CJ eds. Incwadi kaWilliam ye-Endocrinology. Umhla we-14. IPhiladelphia, PA: Elsevier; 2020: isahluko 25.

U-Escobar O, uViswanathan P, uWitchel SF. I-endocrinology yabantwana. Ku: Zitelli, BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 9.

UKumar V, u-Abbas AK, uAster JC. Izifo zemvelo kunye nezifo zabantwana. Ku: Kumar V, Abbas AK, Aster JC, ii-eds. Robbins yePathology esisiseko. Ngomhla we-10. IPhiladelphia, PA: Elsevier; I-2018: isahluko 7.