Prader-Willi Syndrome

Prader-Monika syndrome - he mate ira onge, e kore te he momo o te tuku tuku whakapumautia ki te rā. whakaahuatia syndrome Prader-Monika Tuatahi i roto i 1959 e te tākuta tamariki Swiss H. Monika ko A. Prader, me e au tona ingoa. Kei te karanga a hoki tenei māuiuitanga syndrome o toru «hypo» (hypotonia, hypogonadismus, hypomentia): hypotonia uaua, tupu me te hypogonadism. I tua atu, i te pikitia haumanu he hakari tupu iti me te acromicria - te rahi iti o te ringa me te waewae. Ko te mate, ko te he abnormalities ira matatini e tuku i roto i te tikanga ngoikore autosomal, puta tino maha katea syndrome, engari i reira he take o raraunga utuafare. Ka rite ki te ture, e kore e rangahau cytogenetic whakakitea abnormalities.

Hoki tenei māuiuitanga ko ngā angamaheni ki taua mate rite nui te retardation hinengaro ki te mōmona kaka, poto roa, me te tītohunga gipogenitalizme dysplastic. O te faufaa rahi i roto i te pathogenesis o tenei mate hoatu pōrearea hypothalamic. tikanga tōtika o te ārai me te maimoatanga motuhake mō te Prader-Monika syndrome ko inaianei kore-te moti.

I roto i te whanaketanga o te mate, i reira e rua ngā wāhanga. I muri noa iho whakanuia te whanautanga o te tamaiti te hypotonia nui. Kei te pera korerotia nga tohu e kore e taea e te hanga i te kuao nekehanga noa, a, kino rawa o te katoa, e kore e taea te u,, kia whai ki te whangai ia ratou i te pipette i roto i te ngongo ranei koutou. Ko te hua ko te hypotonia uaua nui me te hanganga roa o toitoi mahi pateko - e kore e taea e ngā tamariki mau toku matenga ake, noho, etc. I tua atu, i reira he he huru ki te hauhauaitu ..

Ko te whanaketanga o te atamira i muri e wahi i roto i te torutoru wiki (marama), te nuinga o te taha o te mutunga o te tuatahi, me te timatanga o te rua o nga tau o te ora. E heke tohu o hypotension, ka whakawhanakehia pukuruaki, i roto i nei wheako tamariki matekai tamau, e kaha rapu ratou mo te kai. Ka rite ki te hua, haamata te reira ki te whakawhanake i te mōmonatanga, e kua he puka rawa motuhake o te tohatoha o te ngako subcutaneous - Kei te nuinga o reira i runga i te topito proximal (hope, me pokohiwi) me te tinana, kia e he tuwhena ringa me waewae paraihe iti. I tua atu, i roto i tenei wāhanga o te mate faaite ake retardation hinengaro: arai kupu, riro kupu rawa iti. Āhuatanga e te putanga o hypogonadism: te mau tamaroa e whakakitea reira i roto i hypoplasia o te ure i roto i te mau tamahine - i roto i te hypoplasia o te labia. I roto i te nuinga o te wā, haere tahi Prader-Monika syndrome e mate huka mellitus.

Ko te pūtake mo te tātaritanga o tenei mate ko te tāutu o te huinga o ngā tohu angamaheni, rite akoranga cytogenetic me karyotyping kore whakakitea tetahi peculiarities. Tikanga ki te wehewehe e rua ngā rōpū matua o tohu haumanu: kitea i whanau ki toru nga tau o tau, me te faaite ake i roto i nga tau neke atu i te toru. Ko te rōpū tuatahi o tohu ngā: whanau iti taimaha, hypotonia me te kai fifi. Tino maha, te whaea mea tino ngoikore, hemo nekehanga fetal i roto i te wā perinatal. I te tahi taime ki runga ki te ono marama tawhito i te momoe, haurangi, lethargy me te moe apnea nui haere. Characteristically roa whanaketanga whakamātau tinana me te dysmorphia (almond- āhua o te kanohi, he bifrontalny diameter whanui a tuku iho koki o te mangai).

Prader-Willi Syndrome ko te ahua tohuāhua ki te mate congenital rite hypothyroidism, e te hoki āhuatanga e hypotonia uaua, waipara nui o te ngako i roto i te mara roa angamaheni whanaketanga whakamātau tinana me te tupu.

I roto i te tirohanga o te wātea o te ngohi whanui o mate, whiwhi tona ingoa i whakaahuatia te tuatahi ratou mau haapiiraa, i reira he etahi whakama. Tino maha, ka karanga Prader-Monika syndrome te rite te "mate Villi Brandta", ahakoa te mate kua tino kahore ki te mahi ki te kaitōrangapū German Willy Brandt, nei ko te tuawha Federal Chancellor o Germany (1969-1974).