Isifo sikaPrader-Willi

I-Prader-Willi syndrome yisifo esivele kusukela ekuzalweni (kokuzalwa). Ithinta izingxenye eziningi zomzimba. Abantu abanalesi simo bazizwa belambile ngaso sonke isikhathi futhi bekhuluphele. Futhi banethoni emsipheni engeyinhle, kunciphise amandla engqondo, nezitho zobulili ezingakakhuli kahle.

I-Prader-Willi syndrome ibangelwa isakhi sofuzo esilahlekile kwi-chromosome 15. Ngokuvamile, abazali ngamunye badlulisa ikhophi yale chromosome. Isici singenzeka ngezindlela ezimbalwa:

• Izakhi zofuzo zikababa azikho ku-chromosome 15
• Kukhona ukukhubazeka noma izinkinga ngezakhi zofuzo zikababa ku-chromosome 15
• Kunamakhophi amabili e-chromosome yomama ayi-15 futhi awekho avela kubaba

Lezi zinguquko zofuzo zenzeka ngokungahleliwe. Abantu abanalesi sifo ngokuvamile abanawo umlando womndeni waleso simo.

Izimpawu zesifo sikaPrader-Willi zingabonakala lapho kuzalwa.

• Izinsana ezisanda kuzalwa zivame ukuba zincane futhi ziyi-floppy
• Izinsana zesilisa kungenzeka zinamasende angavumelekile

Ezinye izimpawu zingafaka:

• Unenkinga yokondla usana, ngokuzuza okungekuhle kwesisindo
• Amehlo amise okwe-alimondi
• Ukuthuthukiswa kwezimoto okubambezelekile
• Ikhanda elincishisiwe emathempelini
• Ukuzuza ngokushesha kwesisindo
• Isiqu esifushane
• Ukukhula kancane kwengqondo
• Izandla nezinyawo ezincane kakhulu uma kuqhathaniswa nomzimba wengane

Izingane zinesifiso esikhulu sokudla. Bazokwenza cishe noma yini ukuthola ukudla, kufaka phakathi ukuqoqa. Lokhu kungaholela ekutholeni isisindo esisheshayo kanye nokukhuluphala ngokweqile. Ukukhuluphala ngokweqile kungaholela ku:

• Thayipha 2 sikashukela
• Umfutho wegazi ophezulu
• Izinkinga ezihlangene nezamaphaphu

Ukuhlolwa kofuzo kuyatholakala ukuhlola izingane nge-Prader-Willi syndrome.

Njengoba ingane ikhula, izivivinyo zebhu zingabonisa izimpawu zokukhuluphala ngokweqile, njenge:

• Ukubekezelelana okungavamile kweglucose
• Izinga eliphezulu le-insulin egazini
• Izinga le-oxygen ephansi egazini

Izingane ezinalesi sifo kungenzeka zingaphenduli ekukhululweni kwe-luteinizing factor-release. Lokhu kuwuphawu lokuthi izitho zabo zocansi azikhiqizi ama-hormone. Kungenzeka futhi kube nezimpawu zokwehluleka kwenhliziyo emaceleni angakwesokudla nezinkinga zamadolo nesinqe.

Ukukhuluphala ngokweqile kuyisongo esikhulu empilweni. Ukunciphisa amakhalori kuzolawula ukuzuza kwesisindo. Kubalulekile futhi ukulawula indawo yengane ukuvimbela ukufinyelela kokudla. Umndeni wengane, omakhelwane, kanye nesikole kumele kusebenze ndawonye, ​​ngoba ingane izozama ukuthola ukudla lapho kungenzeka khona. Ukuzivocavoca umzimba kungasiza ingane ene-Prader-Willi syndrome ukuthi ithole imisipha.

I-hormone yokukhula isetshenziselwa ukwelapha i-Prader-Willi syndrome. Kungasiza:

• Yakha amandla nokushesha
• Thuthukisa ukuphakama
• Khulisa imisipha futhi wehlise amafutha omzimba
• Thuthukisa ukusatshalaliswa kwesisindo
• Khulisa ukuqina
• Khulisa ukuminyana kwethambo

Ukuthatha ukwelashwa kwe-hormone yokukhula kungaholela ekuphefumuleni ubuthongo. Ingane ethatha ukwelashwa kwe-hormone idinga ukuqashwa nge-apnea yokulala.

Amazinga aphansi ama-hormone ezocansi angahle alungiswe lapho usuthomba ngokushintshwa kwama-hormone.

Ukwelulekwa ngokwengqondo nokuziphatha kubalulekile nakho. Lokhu kungasiza ezinkingeni ezivamile njengokukhetha isikhumba nokuziphatha okuphoqelela. Kwesinye isikhathi, umuthi ungadingeka.

Izinhlangano ezilandelayo zinganikela ngezinsizakusebenza nokusekela:

• Inhlangano kaPrader-Willi Syndrome - www.pwsausa.org
• Isisekelo Sokucwaninga Kwe-Prader-Willi - www.fpwr.org

Ingane izodinga imfundo efanelekile ngezinga layo le-IQ. Ingane izodinga nokwelashwa ngenkulumo, ngokomzimba nangokomsebenzi ngokushesha ngangokunokwenzeka. Ukulawula isisindo kuzovumela impilo ethokomele nenempilo.

Izinkinga zikaPrader-Willi zingafaka:

• Thayipha 2 sikashukela
• Ukwehluleka kwenhliziyo emaceleni angakwesokudla
• Izinkinga zamathambo (zamathambo)

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma ingane yakho inezimpawu zalesi simo. Lesi sifo sivame ukusolwa lapho kuzalwa.

UCooke DW, uDiVall SA, uRadovick S. Ukukhula okujwayelekile nokungajwayelekile ezinganeni. KuMelmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ abahleli. Incwadi kaWilliams ye-Endocrinology. Umhlaka 14. IPhiladelphia, PA: Elsevier; 2020: isahluko 25.

U-Escobar O, Viswanathan P, Witchel SF. I-endocrinology yezingane. Ku: Zitelli, BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 9.

UKumar V, Abbas AK, Aster JC. Izifo zofuzo nezengane. Ku: Kumar V, Abbas AK, Aster JC, ama-eds. I-Robbins Basic Pathology. Umhlaka 10. IPhiladelphia, PA: Elsevier; 2018: isahluko 7.