Prader-Willi Syndrome

Prader-Willi chirwere - isingawanzowanikwi nemagene nyonganyonga, mufananidzo nhaka hutachiwana haangasimbiswi zvevakomana. First Prader-Willi chirwere akanga vanorondedzerwa 1959 by chiremba Swiss H. Willi uye A. Prader, uye izvo inotumidzwa zita rayo. zvokurwara ichi chinonziwo chirwere matatu «hypo» (hypotonia, hypogonadismus, hypomentia): tsandanyama hypotonia, dementia uye hypogonadism. Uyewo, chiremba mufananidzo aripo pasi kukura uye acromicria - duku kukura maoko netsoka. Hosha iri kunzwisisa nemagene abnormalities izvo chinopfuudzwa mune imwe autosomal recessive nenzira, chirwere kunoitika kakawanda apo neapo, asi pane zviitiko date mhuri. Kazhinji, zvidzidzo cytogenetic usabudisa abnormalities.

Nokuti zvokurwara ichi kwese akabatana zvirwere zvakadai zvikuru mupfungwa retardation pamwe chepfungwa kufutisa, nomumhu, uye dysplastic gipogenitalizme chinonakidza. Zvikuru muna pathogenesis ichi ape hypothalamic dysfunction. Panzira dzinobudirira muzvidzivirire uye marapiro nokuda Prader-Willi chirwere zvino vasiri aripo.

In kukura chirwere, pane zvikamu zviviri. Nguva pfupi pashure kuberekwa mwana rinopembererwa zvikuru hypotonia. Zviratidzo zviri zvokuti iziviswe kuti vana havagoni kuita kwatangwa kufamba, uye, kupfuura zvose, haagoni muchayamwa, saka imi zvokudya navo kubva pipette kana kuburikidza kumicheto. Zvinoguma wakaomarara chetsandanyama hypotonia uye kunonoka paumbwe locomotor kunofambira mberi mashandiro - vana haune musoro wangu, agare, etc. Uyezve, pane tsika hypothermia ..

Kukura rinotevera Danho kunoitika shomanana (mwedzi), kazhinji pakazopera wokutanga uye kutanga gore upenyu rechipiri. Zviratidzo hypotension vari akaderedzwa, uye vakava bulimia, umo vana kuona kugara nenzara, achishingaira vari kutsvaka zvokudya. Somugumisiro, izvozvo kachitanga kufutisa, iro rine pachena chaizvo chimiro kuparadzirwa subcutaneous mafuta - yakawanda riri pamusoro proximal migumo (hudyu uye mapfudzi) uye muviri, saka kuti maoko uye tsoka disproportionately diki bhurasho. Uyezve, mune danho iri chirwere pachena pacharo mupfungwa retardation: zvaikanganisa pakutaura, mashoko anova zvakawanda. Inozivikanwa nokuda kwaita hypogonadism: vakomana kunoratidzwa muna hypoplasia pakati yemukomana pavasikana - iri hypoplasia pamusoro labia. Kazhinji, Prader-Willi chirwere achabatsirwa chirwere cheshuga mellitus.

The hwaro nechirwere chirwere ichi ndicho kuziva yakatarwa pakati nezvekumwe zviratidzo, sezvo cytogenetic zvidzidzo uye karyotyping haana kuzarura chero dzose. Netsika kusiyanisa mapoka maviri chikuru kunotoda kurapwa zviratidzo: kuchengetwa kubva pakuzvarwa kusvikira pamakore matatu zera hworatidza pacharo nemakore anopfuura matatu. Boka zviratidzo rokutanga dzinosanganisira: yakaderera yokuberekwa uremu, hypotonia uye dzokudya nezvinetso. Kazhinji, amai vanoti simba chaizvo, simba fetus mapato ari pasi perinatal munguva. Dzimwe nguva kusvika matanhatu nemwedzi vane wakawedzera hope, nezvipusha, lethargy uye hope kufema. Characteristically kunonoka psychomotor kukura uye dysmorphia (almond- pezvakaita kwameso, navanopinda bifrontalny dhayamita uye akakotamisa makona muromo).

Prader-Willi Syndrome ari phenotypic kufanana ne vachiberekwa chirwere sezvo hypothyroidism, rinova dzinoratidzwa tsandanyama hypotonia, kunyanya deposition mafuta hwokufananidzira mumunda kunonoka psychomotor kukura uye kukura.

Tichifunga Kuwanikwa rakafara siyana zvirwere, anowana zita rayo kubva pakutanga kurondedzerwa dzidziso dzavo, pane nyongano. Kazhinji, Prader-Willi chirwere anonzi se "chirwere Villi Brandta", kunyange hosha haina zvachose chokuita wezvematongerwo enyika wokuGermany Willy Brandt, uyo aiva Federal yechina weGermany (1969-1974).