Hurler lub syndrome: Ua, Kev Kho Mob thiab Daim duab

Mucopolysaccharidosis - lub npe ntawm ib tug xov tooj ntawm tsawg cov kab mob uas yog caj ces nyob hauv keeb kwm. Pathology muaj vim tsis muaj kev nyob rau hauv lub cev ntawm tej yam enzymes uas pab zom cov roj thiab carbohydrates rau hauv yooj yim molecules. Qhov tsab xov xwm no tham txog mucopolysaccharidosis ntaus 1 - Hurler syndrome.

yog vim li cas

Tus kab mob yog pub nyob rau hauv ib tug autosomal recessive yam. Nws muaj vim anomalies ntawm mucopolysaccharides pauv.

pathogenesis

Mucopolysaccharidosis koom thiaj li hu ua lysosomal cia cov kab mob. Raws li ib tug tshwm sim ntawm tsis muaj peev xwm ntawm lysosomal enzymes yog ib qhov nyuaj catabolism ntawm glycosaminoglycans. Lawv noog nyob rau hauv cov ntaub so ntswg thiab kabmob, cuam tshuam rau lub cev thiab nws cov systems. Nyob rau hauv thawj qhov chaw muaj lub cev pob txha ntawm yeej thiab ncua lub cev txoj kev loj hlob.

Sab nraud cov cim thiab cov tsos mob

Cov tsos mob ntawm tus kab mob no yog manifested nyob rau hauv daim ntawv ntawm cov pob txha tsis xws luag, connective, cartilaginous ntaub so ntswg. Lub ntsiab feature - txoj kev loj hlob ruamqauj. Qhov no cov tsos mob yuav kuaj ua ntej lwm tus, feem ntau yog los ntawm tus kawg ntawm lub thawj xyoo ntawm lub neej, nws yuav paub tseeb hais tias tus me nyuam yog stunted.

Mucopolysaccharidosis tseem tau mus xav tias, pom ntxhib ntsej muag nta. Nyob rau hauv cov neeg mob uas loj tus nplaig, gipertelozirm (ntau heev kev ncua deb ntawm lub paired nrog cev, nyob rau hauv cov ntaub ntawv no ntawm lub qhov muag), deformed pob ntseg, hauv pliaj overhangs, nkhaus hniav.

Cov tsos mob muaj xws li mucopolysaccharidosis qab plab deformation, qhia kyphosis ntawm lub thoracolumbar nqaj qaum. Nyob rau hauv kev x-rays yuav yuav ntes tau ntxov ntxov ossification occipito-parietal suture ossification mob tsis muaj nuclei.

Nyob rau hauv feem ntau tus neeg mob, tus kab mob yog nrog los ntawm tsawg muaj ntawm cov pob qij txha, mob plab hernias, hepatosplenomegaly (o ntawm daim siab thiab tus po vim pathological dab uas tshwm sim raws li ib tug tshwm sim ntawm tus kab mob).

Nyob rau hauv ib feem ntawm kev kawm txoj tib neeg lub hlwb cim lub cev muaj zog ruamqauj thiab hypotonia. Tsis tas li ntawd, thaum muaj ib tug weakening ntawm mucopolysaccharidosis rooj sib hais thiab ib tug txo ntawm txoj kev ntse mus txog rau thaum mob loj heev dementia. Vim hauv nruab nrog cev hnyav mauj skeletal txhab kuj raug teeb nyob rau hauv cov zaubmov.

hom mucopolysaccharidosis

Muaj ob peb hom ntawm cov kab mob uas txawv heev ntawm cov pob txha hloov thiab mob ntawm lub psyche:

• I - Hurler syndrome.
• II - Gunter syndrome (Hunter).
• III - Sanfilippo syndrome.
• IV - Morquio Syndrome.
• VI - Maroto syndrome - Lamy.
• VII - txawj ntse syndrome.

Lub division nyob rau hauv cov kev kho mob cov kev coj ntawm ntau lub teb chaws tej zaum yuav txawv. Nyob rau hauv hom V feem ntau cais Scheie syndrome. Cov American zej zog yog mob mukopolisaridozami muab faib los ntawm tus heev ntawm cov tsos mob ntawm tus thawj hom, thiab muaj peb phenotypes: Hurler syndrome, Scheie syndrome, thiab intermediate ntawm Hurler syndrome - Sheye (xws li Hurler yam, Sheye - qhov uas yooj yim).

Hurler syndrome

Qhov no daim ntawv tshwm sim ntau tshaj lwm leej lwm tus, thiab tau piav yav tas los lwm yam syndromes. Nyob rau hauv tas li ntawd, tus soj ntsuam daim duab ntawm lub feem ntau muaj yeeb yuj thiab raug txhua hom ntawm mucopolysaccharidosis.

Hurler lub syndrome yog tshwm sim los ntawm ib tug autosomal recessive qub txeeg qub teg. Qhov no hom ntawm tus kab mob yog yus muaj los ntawm ib tug heev ceev ceev kev kawm. Txawm tias muaj tseeb hais tias cov thawj hom yog zoo li tus thib ob mucopolysaccharidosis (Gunther, los yog saib xyuas), yog ib txoj kab mob. Rau cov thawj lub sij hawm daim ntawv no twb tau piav nyob rau hauv 1919 los ntawm Gertrud Hurler (thiab yog li ntawd lub npe tseeb - Hurler syndrome, Hurler tsis). Tus zaus ntawm tshwm sim - ib cov ntaub ntawv ntawm 20-25 txhiab tus neeg, thiab nyob rau hauv Feem ntau cov niam txiv ntawm tus me nyuam cov yog hais txog los ntawm cov ntshav. Yog li ntawd yog hais tias koj mob "Hurler syndrome", yog vim li cas yuav tsum tau saib nyob rau ntawm qhov kev tshuaj ntsuam genetic theem. Cov tsos mob yuav tshwm sim yuav luag tam sim ntawd tom qab yug tus me nyuam, thiab rau ob-xyoo soj ntsuam daim duab twb siab qhia.

Hurler lub syndrome - ib tug classic manifestation ntawm tus kab mob. Raws li tus kab mob no slows cia txoj kev loj hlob, qhia cov khees opacity ntawm lub cornea, lub qhov ntswg hlab ntsha phwj. Nyob rau hauv daim ntawv no ntawm tus kab mob nyob rau hauv lub X-ray yuav yuav ntes tau expansion Sella, shortening thiab extension ntawm ntev cov pob txha, vertebral hypoplasia, thiab sharpness ntawm lub lumbar cheeb tsam (thiaj li hu ua ntses pob txha caj qaum), lub vertebral kem deformation (cov neeg mob raug kev txom nyem thoracolumbar tus txha nqaj kyphosis thiab lordosis). Pib pathology ntawm cov hlab plawv system - daig coronary hlab ntsha sib txawv li qub, myocardium, endocardium, lub plawv hlob nyob rau hauv loj.

Ntaus cim hydrocephalus, qhov ua rau ntawm uas yog tso ntawm mucopolysaccharides nyob rau hauv lub meninges. Txhais foci ntawm demyelination. Mucopolysaccharides kuj tso nyob rau hauv lub siab, tus po, raum tubular epithelium; retina, sclera, cornea ntawm lub qhov muag; paj hlwb, cov pob txha mos.

Cov me nyuam yuav yug los nrog ib tug yam ntxwv zoo li - lawv muaj ib tug heev peculiar, ntxhib ntawm lub ntsej muag nta, uas yog vim li cas lwm lub npe mukopolisaharoidozov - gargoilizm (los ntawm lo lus "Gargoyle" - ib tug zoo heev daim duab nrog txawv txawv ntsej muag nta), nrog rau cov thiaj li hu ua, thiab Hurler syndrome. Cov duab, uas qhia tau tus neeg mob kom meej meej cov lus piv txwv bizarre distortion ntawm lub ntsej muag nta tus me nyuam. Cov me nyuam hloov lub pob txha taub hau - nws yuav siv sij hawm tus duab ntawm lub keel ntawm lub nkoj, muaj ib tug thiaj li hu ua scaphocephaly, sunken qhov ntswg, tuab daim di ncauj, tus nplaig loj, ntxhab lub hauv pliaj, luv luv caj dab thiab ib tug yam ntxwv ntawm lub ntsej muag qhia. Outwardly, nws yeej zoo li txoj kev depict mythological Gargoyles.

Tsis tas li ntawd, lawv tau zog lub hauv siab, lub sab tav protrude, muaj cov cim qhia ntawm kyphosis, cov pob qij txha (tshwj xeeb tshaj yog cov ntiv tes thiab lub luj tshib) yog tsaug zog, tej zaum yuav inguinal thiab txoj hlab hernia. Nails yuav tau lub siab zoo ntawm watch tsom-iav, cov plaub hau yuav nyuaj thiab qhuav, lub suab - tsawg thiab husky. Sij hawm ntawm lub rooj sib hais poob los yog txawm lag ntseg. Cov neeg mob feem ntau txom nyem los ntawm cov hniav lwj, uas ua rau Hurler syndrome.

Cov tsos mob muaj xws li cov kab mob ntawm lub pa system, vim hais tias tus me nyuam no yog ua tsis taus pa ntawm qhov ncauj, nws tshwm sim adenoids, nws yog nws tus kab mob. Thaum lub sij hawm, nws tsim cov yam ntxwv ntawm Mucopolysaccharidosis teeb meem nrog rau daim siab thiab tus po (vim muaj zog lub plab), dementia.

Kev loj hlob tseem undersized. Vim tsis yog stature thiab deformities ntawm cov nqaj qaum, cov neeg mob mus rau bent ob txhais ceg, nyob rau tiptoe.

Hurler syndrome muaj hnyav phem tus cwj pwm, yog li cov neeg mob xiam oob qhab tshwm sim tshua muaj sai sai. Muaj ntau yam tsis muaj sia nyob txawm 10 xyoo.

diagnostics

Tus neeg mob yuav tsum ua tus soj ntsuam, moj, biochemical, genealogical thiab molecular genetic kev tshawb fawb. Kuaj ua rau kev soj ntsuam kom paub txog tus kab mob, raws li nyob rau hauv X-ray kev tshawb fawb thiab tsom xam ntawm cov zis, uas yog txiav txim los ntawm enzyme ua si thiab feem ntawm glycosaminoglycans.

kev kho mob ntawm mucopolysaccharidosis

Yog hais tias ib tug neeg mob thiaj paub tias yog "Hurler syndrome" kev kho mob yuav ntev symptomatic. Tus neeg mob muaj cai nyob rau hauv txoj orthopedic, kws phais neeg, cov menyuam yaus, otolaryngologist, ib tug neurosurgeon, neurologist thiab ophthalmologist. Cov neeg mob underwent orthopedic kho mob ntawm lub licas, tshem tawm cov hernia kho nquag ces yuav tsum nyob rau hauv cov neeg mob no kis cov kab mob, tsis hnov lus, otitis, sinusitis. Tsis tas li ntawd ntog nyob rau hauv lub saib xyuas ntawm cov hlab plawv system.

Siv hormonal tshuaj uas ib ntus txhim kho cov mob ntawm tus neeg mob:

• glucocorticoids,
• corticotropin,
• tireoidin.

Nyob rau hauv tas li ntawd, tus neeg mob qhia tau hais tias vitamin A, dextran 70, uas ib ntus txhim kho cov mob ntawm tus neeg mob. Luv-lub sij hawm txhim kho muab ntshav ntshav ntshav npaj.

Hurler syndrome thaum tus neeg mob yuav raug muab tso rau physiotherapy: electrophoresis lidazy nyob rau cheeb tsam ntawm lub cov pob qij txha, laser tej, sib nqus txoj kev kho, paraffin da. Tsis tas li ntawd, cov neeg mob yuav xav kom mus koom nyob rau hauv lub cev txoj kev kho, ce uas muaj feem xyuam rau cov pob qij txha thiab tus txha nqaj. Zoo tau feem ntau muab zaws.

Txij li thaum Hurler syndrome cov neeg mob raug rau ua pa kab mob, yuav tsum tau raws sij hawm ua sanation kab mob foci nyob rau hauv lub qhov ncauj thiab nasopharynx.

Rau cov kev kho mob ntawm mucopolysaccharidosis hom 1 feem ntau ua kev phais - corneal hloov thiab kho ntawm valvular plawv tus kab mob thiab paj entrapment. Nyob rau hauv lub thoob ntiaj teb xyaum, nyob rau hauv tas li ntawd mus symptomatic kev kho mob tshuaj, physiotherapy los yog kev phais kev siv ntawm enzyme txoj kev kho thiab qia cell transplantation.

Yog hais tias tsim nyog, tus neeg mob yog nqa gryzheissecheniya, adenoidectomy, antiglaucomatous lag luam, tracheostomy, prosthetic hip pob qij txha, hydrocephalus shunt, thiab lwm yam ..

outlook

Cov forecast yog unfavorable rau Hurler syndrome thiab lwm yam cov ntaub ntawv uas muaj mucopolysaccharidosis. Hurler syndrome yog tsiag ntawv los ntawm loj tshaj tag kev cia siab. skeletal hloov los ntawm xyoo mus rau xyoo nce, raws li ib tug tshwm sim ntawm tus kabmob thiab tshuab no yuav tseem ceeb tshaj kev ua txhaum. Yog hais tias ib tug me nyuam tuag ntawm mob ntsws ntawm ib tug thaum ntxov muaj hnub nyoog, los ntawm 7-12 xyoo nws yog tsis paub pab lub cev thiab lub hlwb xiam oob qhab. Yuav kom tiav hluas nyob tsev.

kev tiv thaiv

Tiv thaiv kom txhob muaj tus kab mob yog tsis yooj yim sua. Tab sis koj muaj peev xwm ntes nws nyob rau ntawm ib thaum ntxov rau theem - thaum prenatal mob. Ua li no, kev tsom xam ntawm amniotic hlwb rau enzyme deficiency (nyob rau hauv cov ntaub ntawv ntawm ib tug zoo tshwm sim ntawm lub cev xeeb tub ib tug rho menyuam yog pom zoo).

Vim thaum ntxov paub thiab raws sij hawm kev kho mob uas tsim cov leeg nrob qaum compression yuav tsum tsis txhob mus li lawm puas tsuaj rau lub qab haus huv. obligatory nyob rau hauv kev kho mob thiab kev tshuaj ntsuam genetic tswv yim rau kev tiv thaiv.

kev kho mob forecasts

Txawm tias cov teeb meem nyob rau hauv cov nqe lus ntawm cov kev kho mob ntawm Hurler syndrome, nyob rau hauv lub xeem 20 xyoo nyob rau hauv ntau tsim lub teb chaws, ib tug hloov hlwb pob txha, uas ho pab txoj kev zoo ntawm lub neej ntawm cov neeg mob. Ntau tshaj 10 xyoo siv tshuaj hloov txoj kev kho rau cov kev kho mob ntawm tag nrho cov ntaub ntawv ntawm cov mucopolysaccharidosis tsis neurological.