Prader-Willi Syndrome

Prader-Willi syndrome - a sifo esingavamile esidluliselwa ngofuzo, uhlobo ukudluliswa lezinceku is hhayi kusungulwa kuze kube manje. Okokuqala Prader-Willi syndrome achazwa 1959 nge udokotela Swiss H. uWilli futhi A. Prader, futhi lapho neyasemhlabeni. Lokhu zokugula ubizwa nangokuthi syndrome ka ezintathu «Hypo» (hypotonia, hypogonadismus, hypomentia): hypotonia kwemisipha, komqondo kanye hypogonadism. Ngaphezu kwalokho, isithombe sokucindezeleka samanje ukukhula ongaphakeme futhi acromicria - usayizi encane izandla nezinyawo. Lesi sifo singumbulali kwezinso eziyinkimbinkimbi zofuzo okuyinto adluliswa i autosomal ngendlela esikhubazayo, syndrome kwenzeka avame oqabukelayo, kodwa kukhona amacala idatha umndeni. Njengomthetho, izifundo cytogenetic ayivezi kwezinso.

Ngenxa yalesi zokugula kuyinto inhlanganisela ejwayelekile nge izifo ezifana ezinzima retardation engqondo ukukhuluphala-cerebral palsy, onesiqu esifushane, futhi dysplastic gipogenitalizme mkhuba. Lokubaluleke kakhulu kule pathogenesis ngamandla kwalesi sifo ukunikeza ukungasebenzi hypothalamic. izindlela ngempumelelo nokwelashwa ethize Prader-Willi syndrome manje non-akukho.

Ngo ukuthuthukiswa lesi sifo, kunezigaba ezimbili ekubekweni. Ngemva nje kokuzalwa kwengane lugujwa hypotonia ezinzima. Lezi zimpawu wamemezela kangangokuthi izingane azikwazi ukuzenzela iminyakazo ngokwawo, futhi, okubi kunakho konke, awukwazi ncela, ukuze ube ukuwondla ovela pipette noma ngepayipi. Imiphumela iba yinhlanganisela yokukhandleka ezinzima imisipha hypotonia kanye ukubunjwa imisiwe ka locomotor imisebenzi static - izingane ayikwazi ukumisa ikhanda lami, ahlale, njll Ngaphezu kwalokho, kukhona ukuthambekela hypothermia ..

Ukuthuthukiswa esigabeni esilandelayo senzeka emasontweni ambalwa (izinyanga), ngokuvamile ekupheleni zokuqala futhi ekuqaleni konyaka wokuphila wesibili. Izimpawu hypotension ziyancipha, futhi ithuthukiswe bulimia, lapho izingane ukuzwa indlala njalo, basuke ngenkuthalo ngifuna ukudla. Ngenxa yalokho, it ucala kutfutfukisa ukukhuluphala, okuyinto has a ifomu ehlukile kakhulu ukusatshalaliswa amafutha ongama - iningi itholakala emachosheni proximal (ukhalo namahlombe) kanye nomzimba, ukuze izandla nezinyawo uhlasela ibhulashi ezincane. Ngaphezu kwalokho, phakathi nale nkathi lesi sifo kubonakala retardation engqondo: zazikuphazamisa inkulumo, silulumagama iba yako ilinganiselwe kakhulu. Libhekene ukuvela hypogonadism: abafana ke kubonakala hypoplasia wenduku e amantombazane - ku hypoplasia we labia. Ezimweni eziningi, Prader-Willi syndrome kuhambisana ngifundise ngesifo sikashukela.

Isisekelo sitholakele lesi sifo ukuhlonza iqoqo izimpawu ejwayelekile, njengoba izifundo cytogenetic futhi karyotyping cha phendla phi izici. Customary ukuhlukanisa izingxenye ezimbili ezibalulekile izimpawu zokwelapha: waphawula kusuka ekuzalweni kuya eminyakeni emithathu ubudala kuzibonakalisa kuphele iminyaka engaphezu kwemithathu. Iqembu lokuqala izimpawu zihlanganisa: lokuzalwa ongaphakeme isisindo, hypotonia kanye nokuncelisa nobunzima. Kaningi, unina uthi enganamandla kakhulu, eyethile ukunyakaza fetus kwesikhathi perinatal. izinyanga Ngezinye izikhathi eziyisithupha ubudala une-anda ukozela, ukuquleka, ukucobeka kanye ukuphelelwa umoya lapho belele. Akumangalisi imisiwe ukuthuthukiswa lengqondo dysmorphia (almond- ukuma amehlo, ebanzi bifrontalny ububanzi bese ngihlaliswa amakhona umlomo).

Prader-Willi Syndrome kuyinto zifana phenotypic nge yesifo azalwa naso njengoba i-hypothyroidism, okuyilona elisebenzayo futhi libhekene hypotonia kwemisipha, sebethule ngokweqile fat in the ejwayelekile ensimini imisiwe lengqondo ukuthuthukiswa kanye nokukhula.

Uma kucatshangelwa ukutholakala afanayo ezibanzi izifo, uthola igama layo kusukela achazwa ngokokuqala izimfundiso zabo, kukhona ukudideka. Kaningi, Prader-Willi syndrome libizwa ngokuthi "isifo Villi Brandta", nakuba lesi sifo has noluncú olusihlanganisa nge sezombusazwe German Willy Brandt, owayenguyise wesine Federal Shansela Germany (1969-1974).