Nakuba kuyisifo esinezigameko eziphansi kakhulu, singesinye sezifo ezaziwa kakhulu zofuzo. I-Prader-Willi syndrome isifo sofuzo esidala izinkinga ezahlukene ezingeni elijwayelekile. Phakathi kokunye, ukuphathwa okungalungile komuzwa wokusutha ngobuchopho, amandla aphansi emisipha noma ukukhubazeka kwengqondo, phakathi kokunye.
Naphezu kokuba ukuphazamiseka okubangelwa ukushintsha kofuzo, ikakhulukazi ku-chromosome 15 okuthinta ngokuqondile i-hypothalamus, akulona ufuzo. Okusho ukuthi yisifo esenzeka ngokuzenzakalelayo ngenxa yokuguqulwa kofuzo lokho kwenzeka ngesikhathi sokukhulelwa noma ezikhathini ezingaphambi kwaso.
Izimpawu ze-Prader-Willi Syndrome
Ukuphazamiseka kofuzo kwenzeka ku-chromosome 15 ethinta ngokuqondile i-hypothalamus, onesibopho sezenzo ezinjengokuphatha ukusutha noma ukulamba, kanye nokusebenza ekulawuleni isimiso sezinzwa. Lokhu kusho ukuthi abantu abane-Prader-Willi Syndrome banenkinga yokulawula lokho abakudlayo, ngoba ubuchopho babo abuphathi umsebenzi wesignali ye-satiety. Nalokhu, esinye sezici zalesi sifo ukukhuluphala, ngaphezu kwalezi ezinye izimpawu sici Prader-Willi Syndrome, okungaba ngokomzimba kanye nokuziphatha.
Izimpawu zomzimba
Ezingeni lomzimba, i-Prader-Willi Syndrome ithinta kakhulu futhi emazingeni ahlukene. Lezi izici ezibaluleke kakhulu:
- Ukukhuluphala: Abantu abanalesi sifo ngokuvamile bahlushwa ukukhuluphala, ngoba imizimba yabo ayinawo amandla okulawula indlala noma ukusutha. Ngokungalawulwa le misebenzi, baphila nesifiso sokudla njalo futhi kunzima kakhulu kubo ukulawula ukuzwa kwendlala. Ngokwesinye isandla, ukuphazamiseka kwe-hormonal kubangela amaphesenti aphezulu amafutha amaningi.
- Ubuthakathaka bemisipha
- I-Strabismus, le nkinga ivame ukuvela ezinganeni lapho zifika esigabeni sesikole. Bangase bethule ukuchezuka kokubuka kwelinye noma womabili iso.
- Izinkinga zokuphefumula okubangelwa yi- obesidad kanye ne-hypotonia yemisipha
- izifo ze-dermatological, inkinga yesikhumba ebhebhezelwa ukunwaya okuphoqelela kuze kube yilapho isikhumba silima.
- Izinkinga zamazinyo. Ngakolunye uhlangothi, kukhona ukukhiqizwa okuphansi kwamathe okubangela zonke izinhlobo zezinkinga emazinyweni. Ngaphezu kwalokho, abantu abaningi banosayizi womhlathi omncane kunokuvamile ngakho-ke amazinyo awanayo indawo futhi aminyene.
- Ukuphazamiseka ezithweni zocansi.
- izinkinga zokugaya ukudla kanye ohlelweni lwe-endocrine.
- izinkinga zenhliziyo nemithambo yegazi.
Izimpawu ezithinta ukuziphatha
Phakathi kwabaningi izinkinga zengqondo nezokuziphatha ukuthi iziguli ezine-Prader-Willi Syndrome zingase zibe lezi ezilandelayo.
- Ukuphazamiseka kokucindezela okubonakalayo, ikakhulukazi okuhlobene nokudla, nakuba ukuziphatha okuphindaphindiwe kungase kwenzeke nakwezinye izici.
- Izinkinga zokulala
- Ukuphazamiseka kwengqondo, ukucindezeleka, i-bipolar disorder, ukukhathazekaBangase baveze ezinye zezici ezimbi kakhulu zezinye izifo, njengalezo ze-ADD noma i-ASD, i-autism spectrum disorder.
Ukwelashwa kwe-Prader-Willi Syndrome
Okwamanje akukho ukwelashwa okuqondile kwe-Prader-Willi Syndrome njengoba akuyona inkinga yendawo, kodwa ijwayelekile. Ngakho, Ukwelashwa kusekelwe ekuphathweni kwe-hormone yokukhula, kanye nokulawula okuqinile kokudla ukugwema izinkinga zokukhuluphala. Ezingeni elithile, ochwepheshe ngokuvamile bahlanganisa ezinye izindlela zokwelapha eziqondile ngokusekelwe ezicini nasezinkingeni zesiguli ngasinye kanye nezidingo zaso eziqondile esimweni ngasinye.
Ngokuvamile zibhekisela ekwelapheni izinkinga zokuziphatha, izinkinga kanye nama-pathologies atholakala ekukhuluphaleni noma ukuphazamiseka kwe-thyroid okuvame kakhulu kulezi zimo. Ngamafuphi, ukwelashwa okuhloselwe inkinga ethile kakhulu, ngoba okwamanje lesi sifo asinalo ikhambi. Ukulawulwa kwezokwelapha kuzoba njalo futhi kukho konke ukuphila futhi ngale ndlela izinkinga ezingase zivele kukho konke ukuphila zingaxazululwa.