Prader-Willi ọrịa

Prader-Willi syndrome - a obere mkpụrụ ndụ ihe nketa aghara, a ụdị butere n'aka nnyefe na-adịghị ike ka ụbọchị. First Prader-Willi syndrome kọwara na 1959 site na Switzerland pediatrician H. Willi na A. Prader, na nke nweta aha. Nke a daa ọrịa a na-akpọ syndrome nke atọ «hypo» (hypotonia, hypogonadismus, hypomentia): muscular hypotonia, mgbaka na hypogonadism. Ke adianade do, na-adakarị picture bụ ugbu ala ibu na acromicria - obere size nke aka na ụkwụ. The ọrịa a mgbagwoju mkpụrụ ndụ ihe nketa abnormalities nke na-ebute site ná na autosomal recessive n'ụzọ, syndrome emee Ọtụtụ sporadik, ma e nwere mgbe nke ezinụlọ data. Dị ka a na-achị, cytogenetic ọmụmụ adịghị ekpughe abnormalities.

N'ihi na nke a daa ọrịa na-ahụkarị Nchikota na ọrịa ndị dị ka oké eme iberibe na-arịa ọrịa oké ibu, mkpụmkpụ, na dysplastic gipogenitalizme onu. Nke dị oké mkpa na pathogenesis nsogbu a na-enye hypothalamic dysfunction. Ụzọ dị irè nke mgbochi na kpọmkwem ọgwụgwọ maka Prader-Willi syndrome bụ ugbu a ndị na-abụghị existent.

Na mmepe nke ọrịa, e nwere abụọ n'ụzọ. Obere oge ọmụmụ nke a na nwa na-eme ememe na oké hypotonia. Mgbaàmà na-otú akpọ na ụmụaka nwere ike ghara ime ka n'amaghi mmegharị, na, kasị njọ, ike inu, otú i nwere na-eri nri ha site na a pipette ma ọ bụ site na a tube. N'ihi bụ a oké muscle hypotonia na-egbu oge guzobere locomotor static ọrụ - ụmụaka ike jide isi m elu, nọdụ, wdg Ke adianade do, e nwere a ọchịchọ hypothermia ..

Mmepe nke ọzọ ogbo na-ewe ebe a izu ole na ole (ọnwa), na-emekarị site na njedebe nke mbụ na mmalite nke n'afọ nke abụọ nke ndụ. Mgbaàmà nke hypotension na-ebelata, na mepụtara bulimia, nke ụmụaka na-enwe mgbe nile na agụụ, na ha na-arụsi ọrụ ike na-achọ ihe oriri. N'ihi ya, ọ na-amalite ịzụlite ibu oké ibu, nke nwere nnọọ iche n'ụdị nke nkesa subcutaneous abụba - ka ọtụtụ n'ime ya na-emi odude na proximal nsọtụ (n'úkwù na n'ubu) na ahu, nke mere na aka na ụkwụ na-disproportionately obere ahịhịa. Ke adianade do, na a na-adọ nke ọrịa na-egosipụta onwe-eme iberibe: impeded okwu, okwu na-aghọ nnọọ nta. Ji ntoputa nke hypogonadism: ụmụ nwoke ọ na-egosipụta hypoplasia nke amụ na ụmụ agbọghọ na - na hypoplasia nke labia. N'ọnọdụ ka ukwuu, Prader-Willi syndrome na-esonyere-arịa ọrịa shuga mellitus.

The ndabere maka nchoputa nke ọrịa a bụ njirimara nke a set nke-ahụkarị ihe mgbaàmà, dị ka cytogenetic ọmụmụ na karyotyping ekpugheghị ọ bụla peculiarities. Omenala ịmata isi ihe abụọ dị iche iche nke na-adakarị ịrịba ama: hụrụ si mụrụ afọ atọ na-egosipụta onwe ya na ihe karịrị afọ atọ. The ìgwè mbụ nke ihe ịrịba ama na-agụnye: ala ọmụmụ arọ, hypotonia na nri isi ike. Ọtụtụ mgbe, nne na-ekwu nnọọ na-adịghị ike, ha nāda # mbà nwa ebu n'afọ mmegharị ke na perinatal oge. Mgbe ụfọdụ ruo ọnwa isii nwere ihe mụbara iro ụra, ọdụdọ, lethargy na-ehi ụra apnea. Characteristically egbu oge psychomotor mmepe na dysmorphia (almond- udi nke anya, a obosara bifrontalny n'obosara ma zie akụkụ ọnụ).

Prader-Willi ọrịa bụ a phenotypic oyiyi na congenital ọrịa dị ka hypothyroidism, nke a na-ji muscular hypotonia, oké deposition nke abụba ke ahụkarị ubi na-egbu oge psychomotor mmepe na ibu.

Na echiche nke nnweta a sara mbara n'usoro nke ọrịa, na-akawanye aha ya si akpa kọwara ozizi ha, e nwere ụfọdụ mgbagwoju anya. Ọtụtụ mgbe, Prader-Willi syndrome a na-akpọ dị ka "ọrịa Villi Brandta", ọ bụ ezie na ọrịa nwere nnọọ ihe na-eme na ndọrọ ndọrọ ọchịchị German Willy Brandt, onye bu nke-anọ Federal chancelo nke Germany (1969-1974).