Prader-Willi Syndrome

Prader-Willi syndrome - ochepa chabe majini matenda, ndi mtundu wa HIV kumtundu si anakhazikitsa kuti tsiku. Choyamba Prader-Willi syndrome limafotokonzera 1959 ndi Swiss dokotala H. Willi ndi A. Prader, ndi amene alitcha dzina. kudwala umenewu umatchedwanso syndrome atatu «hypo» (hypotonia, hypogonadismus, hypomentia): akulu hypotonia, maganizo ndi hypogonadism. Komanso, chithunzi matenda alipo otsika kukula ndi acromicria - kukula yaing'ono ya manja ndi mapazi. matenda ndi zovuta kuvutika majini amene opatsirana mu autosomal unsembe recessive, matenda limapezeka nthawi zambiri ayi, koma pali milandu deta banja. Monga ulamuliro, maphunziro cytogenetic saulula kuvutika.

Pakuti kudwala ndi zina kuphatikiza ndi matenda aakulu retardation maganizo ndi kunenepa oziziritsa, aafupi, ndi dysplastic gipogenitalizme chodabwitsa. Chofunika kwambiri mu pathogenesis wachisokonezo zimenezi hypothalamic kukanika. njira Mwaluso kupewa ndi kuchiza enieni syndrome Prader-Willi tsopano si sakupezeka.

Mu chitukuko cha matenda, pali magawo awiri. Atangochoka kubadwa kwa mwana chikondwerero hypotonia kwambiri. zizindikiro ndi choncho kutchulidwa kuti ana sangathe kupanga magulu lachibadwa, ndipo choyipitsitsa cha zonse, simungathe akuyamwitsa kotero kuwadyetsa iwo kwa pipette kapena kudzera chubu. Chifukwa ndi aakulu minofu hypotonia ndi kuchedwa mapangidwe ntchito locomotor malo amodzi - ana sizingatiletse mutu wanga, kukhala, etc. Komanso, pali chizolowezi hypothermia ..

Kukula kwa siteji yotsatira chikuchitika mu masabata ochepa (miyezi), kawirikawiri ndi kutha kwa woyamba ndi chiyambi cha chaka chachiwiri cha moyo. Zizindikiro za hypotension ndi kuchepetsedwa, ndipo anayamba bulimia, imene ana kuona njala zonse, iwo zikukangalika kufunafuna chakudya. Chifukwa cha zimenezi, iwo amayamba kukhala kunenepa, amene ali fomu chosiyana kwambiri za kufalitsidwa kwa subcutaneous mafuta - ambiri a iwo ili m'makona proximal (m'chiuno ndi mapewa) ndi thupi, kotero kuti manja ndi mapazi ndi yakusatetezeka yaing'ono burashi. Komanso, mu gawo lino la matenda kumaonekera maganizo retardation: asalankhule mawu, mawu amakhala zochepa. Yodziwika ndi zikamera wa hypogonadism: anyamata ndi akuwonetseredwa mu hypoplasia kwa mbolo atsikana - mu hypoplasia wa labia lapansi. Nthawi zambiri, matenda Prader-Willi limodzi ndi shuga.

Maziko matenda a matenda ndi chizindikiritso cha mndandanda wa zizindikiro lililonse, monga maphunziro cytogenetic ndi karyotyping saulula peculiarities iliyonse. Mwambo kusiyanitsa magulu awiri aakulu zizindikiro matenda: mwaona kuti pa kubadwa kwa zaka zitatu ndipo kumaonekera zaka zoposa zitatu. Gulu loyamba la zizindikiro monga: kulemera otsika kubadwa, hypotonia ndi kudya mavuto. Nthawi zambiri, mayi kunena ofooka kwambiri, kukomoka kayendedwe yoopsa mu nthawi perinatal. miyezi nthawi zina zisanu ndi chimodzi ndi kuchuluka tulo, khunyu, ulesi ndi matenda obanika kutulo. Characteristically anachedwa psychomotor chitukuko ndi dysmorphia (almond- mawonekedwe a maso, lonse bifrontalny awiri ndi adatchithisira ngodya m'kamwa).

Prader-Willi Syndrome ndi phenotypic kufanana ndi matenda obadwa monga hypothyroidism, chomwenso ndi yodziwika ndi akulu hypotonia, amaika mafunsidwe a mafuta mmene munda anachedwa chitukuko psychomotor ndi kukula.

Polingalira za kupezeka kwa khamu waukulu matenda, afika dzina la loyamba ziphunzitso zawo, pali chisokonezo. Nthawi zambiri, Prader-Willi syndrome amatchedwa ngati "matenda Villi Brandta", ngakhale matenda ali mwamtheradi kanthu kochita ndi German wandale Willy Brandt, amene anali wachinayi Federal Chancellor a Germany (1969-1974).