Prader-Willi Syndrome

Prader-Willi syndrome - ib tug tsawg caj tsis meej, ib yam ntawm roj ntsha kis tau tus mob yog tsis tsim rau hnub tim. Thawj Prader-Willi syndrome twb piav nyob rau hauv 1959 los ntawm cov Swiss cov menyuam yaus H. Willi thiab A. Prader, thiab cov uas tshuav nqi nws lub npe. Qhov no pathology tseem hu ua syndrome ntawm peb «hypo» (hypotonia, hypogonadismus, hypomentia): npag hypotonia, dementia thiab hypogonadism. Nyob rau hauv tas li ntawd, tus soj ntsuam daim duab no yog tam sim no tsis muaj txoj kev loj hlob thiab acromicria - lub me me loj ntawm lub ob txhais tes thiab ob txhais taw. Tus kab mob yog ib tug complex genetic txawv txav uas yog kis tau nyob rau hauv ib tug autosomal recessive yam, syndrome tshwm sim feem ntau thawm, tab sis muaj mob ntawm tsev neeg cov ntaub ntawv. Raws li ib tug txoj cai, cytogenetic kev tshawb fawb tsis qhia txawv txav.

Rau no pathology yog raug thaum lawv tseem nrog xws li cov kab mob li kev puas siab puas ntsws ruamqauj nrog cerebral rog, luv luv stature, thiab dysplastic gipogenitalizme phenomenon. Ntawm kuj zoo kawg tseem ceeb nyob rau hauv lub pathogenesis ntawm no teeb meem muab hypothalamic kawg. Pib txoj kev ntawm kev tiv thaiv thiab kev kho rau Prader-Willi syndrome yog tam sim no uas tsis yog-existent.

Nyob rau hauv txoj kev loj hlob ntawm tus kab mob, muaj ob theem. Tsis ntev tom qab yug tus me nyuam ntawm ib tug me nyuam yog kev zoo siab rau mob loj heev hypotonia. Cov tsos mob thiaj li hais tias cov me nyuam yuav tsis ua rau txawj taw, thiab, phem tshaj ntawm tag nrho cov, yuav tsis ntxais, ces koj yuav tau pub rau lawv los ntawm ib tug pipette los yog los ntawm ib tug raj. Cov no ib tug loj heev nqaij hypotonia thiab ncua tsim ntawm locomotor zoo li qub zog - cov me nyuam yuav tuav tsis tau kuv lub taub hau li, zaum, thiab lwm yam Nyob rau hauv tas li ntawd, muaj yog ib tug ib txwm mus hypothermia ..

Cov kev loj hlob ntawm lub theem tom ntej yuav siv sij hawm qhov chaw nyob rau hauv ib tug ob peb lub lis piam (lub hlis), feem ntau yog los ntawm tus kawg ntawm lub thawj thiab pib ntawm lub thib ob xyoo ntawm lub neej. Cov tsos mob ntawm hypotension yog txo, thiab tsim bulimia, nyob rau hauv uas cov me nyuam muaj kev tu ncua kev tshaib kev nqhis, lawv muaj kev koom tab tom nrhiav rau cov khoom noj. Raws li ib tug tshwm sim, nws yuav pib los tsim kev rog, uas muaj ib tug heev txawv daim ntawv ntawm lub tsev ntawm subcutaneous rog - feem ntau ntawm nws yog nyob rau hauv lub proximal extremities (duav thiab lub xub pwg nyom) thiab lub cev, yog li ntawd txhais tes thiab ob txhais taw yog disproportionately me me txhuam. Nyob rau hauv tas li ntawd, nyob rau hauv no theem ntawm tus kab mob manifests nws tus kheej kev puas hlwb ruamqauj: impeded hais lus, paub cov ntsiab lus ua heev xwb. Tsiag ntawv los ntawm tshwm sim los ntawm hypogonadism: tus tub hluas nws yog manifested nyob rau hauv hypoplasia ntawm lub chaw mos ntxhais - nyob rau hauv lub hypoplasia ntawm lub labia. Nyob rau hauv feem ntau tus neeg mob, Prader-Willi syndrome yog nrog los ntawm cov ntshav qab zib mellitus.

Lub hauv paus rau qhov mob ntawm tus kab mob no yog cov cim ntawm ib tug txheej ntawm raug mob, raws li cytogenetic kev tshawb fawb thiab karyotyping tsis qhia tej peculiarities. Txoj kev cai uas kom paub qhov txawv ob lub ntsiab pawg ntawm kev soj ntsuam tej yam tshwm sim: pom los ntawm yug mus rau peb xyoos ntawm hnub nyoog thiab manifests nws tus kheej nyob rau hauv ntau tshaj li peb lub xyoos. Cov thawj pab pawg neeg ntawm tej yam tshwm sim muaj xws li: menyuam tsis muaj phaus, hypotonia thiab noj nyom. Heev feem ntau, cov niam hais muaj zog heev, tsaus muag me nyuam hauv plab taw nyob rau hauv lub perinatal lub sij hawm. Tej thaum mus txog rau lub hlis qub muaj ib tug muaj zog nkees nkees, qaug dab peg, nkees thiab pw tsaug zog apnea. Characteristically ncua psychomotor txoj kev loj hlob thiab dysmorphia (almond- zoo ntawm lub qhov muag, ib tug dav bifrontalny lub cheeb thiab nws txo qis cov ces kaum ntawm lub qhov ncauj).

Prader-Willi Syndrome yog ib tug phenotypic resemblance nrog congenital kab mob raws li hypothyroidism, uas yog tseem yus muaj los ntawm npag hypotonia, ntev li deposition ntawm rog nyob rau hauv qhov raug teb ncua psychomotor txoj kev loj hlob thiab kev loj hlob.

Nyob rau hauv view ntawm lub nyob rau ntawm ib tug broad array ntawm cov kab mob, tau txais nws lub npe los ntawm tus thawj piav lawv tej lus qhia, muaj ib co tsis meej pem. Heev feem ntau, Prader-Willi syndrome yog hu ua raws li cov "tus kab mob Villi Brandta", Txawm hais tias tus kab mob no muaj kiag li tsis muaj dab tsi ua nrog German politician Willy Brandt, uas yog tus thib plaub Federal Chancellor ntawm lub teb chaws Yelemees (1969-1974).