Prader-Willi Syndrome

Prader-Willi syndrome - a isirkiisa ah, nooc ka mid ah gudbinta dhaxlo aan loo aasaasay si ay taariikhda. First Prader-Willi syndrome ayaa lagu tilmaamay in 1959 by dhakhtarka carruurta ee Swiss H. Willi iyo A. Prader, kaas oo ay magaceeda ku leedahay. cudurada Tani waxaa kaloo lagu magacaabaa syndrome saddex «hypo» (summer, hypogonadismus, hypomentia): summer muruqa ah, dementia iyo hypogonadism. Intaa waxaa dheer, sawirka caafimaad oo waa koritaanka jooga hoose iyo acromicria - size yar ee gacmaha iyo cagaha. Cudurka ayaa ah mid aan caadi ahayn a hidde adag kuwaas oo lagu kala qaado ee autosomal hab recessive, syndrome waxay badanaa ka dhacdaa goos goos ah, balse waxaa jira xaalado xogta qoyska. Sida caadiga ah, waxbarashada cytogenetic ma muujin aan caadi ahayn.

Waayo, cudurada tani waa isku dhafan ee caadiga ah cudurro sida daran dhimaal maskaxeed la cayilka cerebral, laakiinse sarajooggiisu gaaban, iyo ifafaale gipogenitalizme dysplastic. Of muhiimadda weyn ee pathogenesis ee cudurka this siin cillad hypothalamic. Hababka wax ku oolka ah ee ka hortagga iyo daaweynta gaarka ah ee Prader-Willi syndrome hadda waa aan jirin.

In horumarinta cudurka, waxaa jira laba weji. Muddo yar ka dib dhalashada ilmaha la xusaa summer daran. Calaamadaha waxaa si loogu dhawaaqaa in kids ma ka dhigi kartaa dhaqdhaqaaqyo iska dhaca, iyo, ugu xumaa ee dhan, ma nuugi karo, si aad u leeyihiin in ay iyaga ku quudin ka mikaraskoob ama tuubo. Natiijadu waxay tahay summer muruqa daran iyo formation of dib u socon karto hawlaha guurto ah - carruurta aan madaxayga kor u qaadi karin, fadhiisan, iwm Intaa waxaa dheer, waxaa jira u janjeera in ay hypothermia ..

Horumarinta ee marxaladda soo socota meel dhowr toddobaad (bilood), sida caadiga ah by dhamaadka hore iyo bilowga sanadka labaad ee nolosha. Calaamadaha hypotension la yareeyo, iyo in la horumariyo bulimi, taas oo carruurtu la kulmaan gaajo joogto ah, ay si firfircoon uga raadinaya cunto. Sidaas darteed, wuxuu bilaabaa in ay horumariyaan cayilka, taas oo uu leeyahay qaab aad u kala duwan ee qaybinta baruurta subcutaneous - inta badan waxaa ka mid ah waxa uu ku yaalaa on the jirka proximal (miskaha iyo garbaha) iyo jidhka, si ay gacmaha iyo cagaha sineyn waa buraash yar. Intaa waxaa dheer, in wejigan cudurka muuqato dhimaal maskaxeed: carqalad hadalka, erayada uu noqonayaa mid aad u kooban. Lagu gartaa ah ee hypogonadism: wiilasha waxaa lagu muujiyey in hypoplasia guska in gabdhaha - in hypoplasia ee dibnaha. Xaaladaha intooda badan, Prader-Willi syndrome waxaa ku weheliyay diabetes mellitus.

The salaysan lagu ogaado cudurkan waa aqoonsiga of set oo ah astaamaha caadiga ah, sida waxbarashada cytogenetic iyo karyotyping ma muujin wax dhegyadii. Dhaqameedka in la kala saaro labada kooxood ugu weyn ka mid ah Calaamooyinkiisa clinical: arkay laga bilaabo dhalashada ilaa saddex sano iyo muuqato in ka badan saddex sano. Kooxdu waxay ugu horeysay ka mid ah Calaamooyinkiisa waxaa ka mid ah: dhibaatooyinka miisaan ka hooseeya, summer iyo quudinta. Marar badan, hooyada odhan aad u tabar daran, dhaqdhaqaaqa uurjiifka darnaaday in mudada dhalida. Mararka qaarkood ilaa lix bilood jir ah ay leeyihiin kor u hurdo, qalal, feejignaan xumo iyo hurdo xibin gal ah. Characteristically dib u horumarinta psychomotor iyo dysmorphia (almond- qaabka indhaha, ballaciisu yahay bifrontalny ballaaran oo hoos u geesood oo afka).

Prader-Willi Syndrome waa muuqashadii dembigooda a phenotypic leh cudurka lagu dhasho sida hypothyroidism, kaas oo sidoo kale lagu gartaa summer muruqa ah, dhigaalka-dhaafka ah ee baruurta duurka dib u horumarinta psychomotor caadiga ah iyo koritaanka.

In view of helitaanka soo diyaariyeen ballaaran ee cudurada, ay magaca helo hore ku tilmaamay Cilmigoodii, waxaa jira jahwareer qaar ka mid ah. Marar badan, Prader-Willi syndrome waxaa lagu magacaabaa sida "cudurka Villi Brandta", in kasta oo uu cudurku leeyahay gabi ahaanba waxba u qaban la siyaasi Jarmal Willy Brandt, oo ahaa Federaalka Chancellor afraad ee Germany (1969-1974).