Prader-noWilli Syndrome

Prader-yamgweba syndrome - zofuzo disorder inqabile, uhlobo lwe transmission zamafa akuxhomekekanga lusekiwe ukuza kuthi ga ngoku. Okokuqala Prader-uWilli syndrome kuchazwa 1959 nge udokotela Swiss H. uWilli kunye A. Prader, yaye yalapho igama layo. Le ngezifo kwakhona ngokuba syndrome amathathu «iHypo» (hypotonia, hypogonadismus, hypomentia): hypotonia dystrophy, dementia okhawulezileyo. Ukongeza, umfanekiso yinto yokukhula ekhoyo kunye acromicria - ubukhulu encinane izandla neenyawo. Esi sifo a ukungaqheleki entsonkothileyo yemfuza ezo idluliselwe ngendlela sofuzo autosomal, syndrome kwenzeka amaninzi manqapha, kodwa ke kukho iimeko data entsapho. Njengomgaqo, izifundo cytogenetic musa phendla ukungaqheleki.

Kuba lo ngezifo na idibanise eqhelekileyo nezifo ezifana kakhulu ukukhubazeka engqondweni kutyeba yobuchopho, omfutshane ngesithomo, kwaye dysplastic gipogenitalizme nesenzeko. Kubaluleke kakhulu kwi Pathogenesis kwesi sifo ukunika kwekhono hypothalamic. iindlela ezisebenzayo zothintelo kunye nonyango esithile Prader-uWilli syndrome ngoku azikho kwaukubakho.

Kuphuhliso sifo, kukho izigaba ezibini. Kungekudala emva kokuzalwa komntwana lubhiyozelwa hypotonia kakhulu. Ezi mpawu kukubi ukuba abantwana abakwazi ukwenza iintshukumo ngaso, kwaye, okubi zonke, akakwazi kwanya, ngoko ke kufuneka ukubondla evela sokukhetha umbala okanye ityhubhu. Ngenxa yoko hypotonia kwezihlunu kakhulu kwaye ukuyilwa ilibasiza weentshukumo imisebenzi ezingashukumiyo - abantwana bangabinakho ukubamba intloko yam, uhlale, njl Ukongeza, kukho umkhwa ku emzimbeni ..

Uphuhliso kwisigaba esilandelayo kwenzeka ngendlela kwiiveki ezimbalwa (iinyanga), ngokuqhelekileyo ekupheleni yowokuqala, ekuqaleni konyaka wesibini ebomini. Iimpawu hypotension kuyathotywa, baza ukudla, apho abantwana bafumana balamba ngokuqhubekayo, ngenkuthalo bafuna ukutya. Ngenxa yoko, ukuba uqala ukuphuhlisa ukutyeba, nto leyo iba uhlobo olwahlukileyo kakhulu lonikezelo amanqatha ongama - uninzi kokuba kubekwe eziphelweni proximal (esinqeni kunye namagxa) kunye umzimba, Zingenzi nto izimasekileyo izandla neenyawo avela ibrashi amancinci. Ukongeza, kwesi sigaba kwesi sifo kubonakala ukukhubazeka engqondweni: nzima intetho, amagama uba ambalwa kakhulu. Luphawulwa ukuvela okhawulezileyo: amakhwenkwe athe wabonakala kwi hypoplasia le lobudoda emantombazaneni - xa hypoplasia le kwiLibia. Kwiimeko ezininzi, Prader-kaWilli syndrome lukhatshwa seswekile sinwenwa.

Isiseko uxilongo kwesi sifo ukuchongwa iseti iimpawu ezithile, njengoko izifundo cytogenetic kunye karyotyping ayivezi naziphi na izinto awohluke. Customary yokwahlukanisa amaqela amabini eziphambili iimpawu zonyango: ndazigcina ekuzalweni ukuya kwiminyaka emithathu ubudala kwaye esizibonakalisa kwiminyaka engaphezu kwemithathu. Iqela lokuqala iimpawu ziquka: enobunzima obuncinane, hypotonia nokondla nobunzima. Kaninzi, unina bathi siswele kakhulu, iintshukumo fetal Inobulwelwe kwixesha osana. kwiinyanga Ngamanye amaxesha phezulu ukuya ezintandathu ubudala kufuneka elandileyo ukozela, ukuxhuzula, silale kunye belele. Akumangalisi imisiwe uphuhliso lengqondo dysmorphia (almond- imilo yamehlo, i bifrontalny ububanzi ebanzi, bazifinyeza neekona umlomo).

Prader-noWilli Syndrome i ufana phenotypic kunye yesifo azalwa njengoko hypothyroidism, nto leyo nayo luphawulwa hypotonia dystrophy, nokufumba ngokugqithisileyo kwamafutha endle imisiwe uphuhliso lengqondo eqhelekileyo kunye nokukhula.

Ngenxa yokufumaneka kwe uluhlu olubanzi zezifo, ufumana igama layo ukusuka yokuqala echazwe iimfundiso zabo, kukho ukudideka. Lidla Prader-kaWilli syndrome ubizwa ngokuba "sifo Villi Brandta", nangona sifo akukho nto yakwenza yezopolitiko yaseJamani Willy Brandt, yayingubani yesine Federal Chancellor of Germany (1969-1974).