Hurler ee syndrome: Sababaha, Daaweynta iyo Picture

Mucopolysaccharidosis - magaca guud ee tiro ka mid ah cudurada dhif ah in ay yihiin hidde ee asal ahaan. Pathology yeesho sabab u la'aanta ah ee jirka ka mid ah ensaymes gaar ah oo kaa caawin dumin dufan iyo carbohydrates galay taagoo fudud. Maqaalkani waxa uu ka hadlayaa mucopolysaccharidosis nooca 1 - Hurler syndrome.

sababaha

Cudurku waa dhaxalkii ay reer autosomal hab recessive. Waxa uu yeesho sabab u cillado ee mucopolysaccharides sarrifka.

pathogenesis

Mucopolysaccharidosis la xidhiidhaa wax-u cudurada kaydinta lysosomal. Sidaas darteed of deficiency of falgalka lysosomal waa catabolism adag ee glycosaminoglycans. Waxay ku ururto ee unugyada iyo xubnaha, khalkhal jidhka iyo nidaamka ay. In meesha ugu horeysa waxaa jira lafaha ah ee soo gaartay iyo horumarka jireed raagay.

calaamadaha dibadda iyo calaamadaha

Astaamaha cudurka waxa lagu muujiyey in foomka cilladaha lafta, connective, unugyada cartilaginous. The feature ugu muhiimsan - dhimaal koritaanka. Cudurkaan waxaa lagu ogaan karaa ka hor kuwa kale, sida caadiga ah dhammaadka sannadka ugu horeeya ee nolosha, waxa uu noqonayaa mid iska cad in ilmaha la faaqidaad.

Mucopolysaccharidosis sidoo kale suurto gal ah in ay qaataan, maxaa yeelay, sifooyinka wajiga aan dhab ahayn. In bukaanka qaba carrabka waaweyn, gipertelozirm (masaafada aad u badan oo u dhexeeya xubnaha aaday, haddii ay taasi indhaha u dhexeeya), dhegaha ay maroorsamaan, overhangs fooddiisa, ilkaha geesba.

Calaamadaha waxaa ka mid mucopolysaccharidosis lahayo ku thorax, ayaa muujiyay kyphosis dhabarta thoracolumbar. In qabashada x-rays waxaa lagu ogaan karaa lafoobid dhicis occipito-parietal xanuunada lafoobid tollin aan nuclei.

Xaaladaha intooda badan, cudurka waxa la socda dhaqdhaqaaqa xaddidan ee laabatooyinka, hernias caloosha, hepatosplenomegaly (wayneeyo of beerka iyo beeryarada ay sabab u tahay geedi socodka bahal dhaca sabab u ah cudurka).

On qayb ka mid ah neerfaha calaamadeeyay dhimaal motor iyo summer. Sidoo kale, marka ay jirto daciifaan ah mucopolysaccharidosis maqalka iyo hoos u dhac sirdoonka ilaa dementia daran. Sababo la xiriira xubnaha gudaha horusocod lesions lafaha systemic sidoo kale u sakhiray in ay rabshooyin darajooyin kala duwan.

noocyada mucopolysaccharidosis ah

Waxaa jira dhawr nooc oo ah cudurada kala duwan adkaanta isbedel lafaha iyo xanuunada laabaha:

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

Qeybtu waxay ku dhaqanka caafimaad ee dalalka kala duwan ee kala duwanaan karaan. In nooca V badanaa go'doonsan Scheie syndrome. Beesha American waa mukopolisaridozami buka qaybiyey darnaanta calaamadaha nooca ugu horeysay, waxaana jira saddex phenotypes: Hurler syndrome, Scheie syndrome, iyo dhexe u dhexeeya Hurler syndrome - Sheye (oo ay ku jiraan Hurler adkaa, Sheye - fudud ah).

Hurler syndrome

foomka Tani waxay dhacdaa inta badan ka badan kuwa kale, oo hore ayaa lagu tilmaamay syndromes kale. Intaa waxaa dheer, sawirka caafimaad ee ugu midabo iyo caadiga ah ee dhammaan noocyada mucopolysaccharidosis ah.

Hurler ee syndrome waxaa keena autosomal dhaxal recessive. Noocan cudurka waxaa lagu gartaa horumar aad u degdeg ah. In kasta oo xaqiiqda ah in nooca ugu horeysay ee ay la mid tahay mucopolysaccharidosis labaad (Gunther, ama Hunter), waa cudur adag. Waayo, markii ugu horeysay ee foomkan lagu tilmaamay in 1919 by Gertrud Hurler (oo sidaas daraaddeed magaca saxda ah - Hurler syndrome, Hurler ma). Inta jeer ee dhacdo - mid ka mid ah 20-25 kun oo qof, oo kiisaska intooda badan waalid ee ilmaha ay dhibaatadu saameysey la xiriira by dhiigga. Sidaas darteed haddii aad cudurka "Hurler syndrome", sababaha u baahan tahay in aad eegto heerka hidaha. Astaamaha ka muuqan dhow isla markiiba dhalashada ka dib, iyo in sawir caafimaad oo labadii sano mar hore si buuxda loogu qeexay.

Hurler ee syndrome - muujinta a classic cudurka. Sida uu cudurku uga caanuhu koritaanka, tilmaamay sentigiiba muuqata ee wilka, ee sanka faafi xididdada dhiigga. In foomkan cudurka ee-X ray lagu ogaan karaa ballaarinta Sella, yaraynta iyo kordhinta lafaha dhaadheer, hypoplasia vertebral, iyo macaamiloon gobolka lumbar (ee loo yaqaan araxda kalluun), calaamadaha lahayo ku column vertebral (bukaanada ku xanuunsado kyphosis dhabarta thoracolumbar iyo lordosis). Ku bilow cudurada nidaamka wadnaha iyo - dhaafiyay halbowleyaasha wadnaha kala duwan filtarka, myocardium, endocardium, qalbiga ku koraa size.

yiraahdo hydrocephalus calaamadeysan, sababta oo ah, kuwaas oo kayd ah mucopolysaccharides ee xuubabka maskaxda. Axdigu qeexay of demyelination. Mucopolysaccharides sidoo kale shubo ee beerka, beeryarada, epithelium kelyaha embriyaha; retina, sclera, wilka isha; unugyada dareenka, carjawda.

Carruurtu waxay dhashaan iyaga oo leh muuqaalka sifo - waxay leeyihiin oo aad u gaarka ah, sifooyinka wajiga aan dhab ahayn, taas oo ah sababta magac kale mukopolisaharoidozov - gargoilizm (ka yimid ereyga "gargoyle" - tiradaasi fantastik ah oo leh waxyaabo aan caadi ahayn wajiga), oo ay ku jiraan waxa loogu yeero, iyo Hurler syndrome. Photos, taasoo muujineysa bukaanka si cad u muujinaya dhalanrog yaab of sifooyinka wajiga ilmaha. Carruurtan bedelay dhaladii - waxay qaadataa qaabka ay guushu ee doonta, waxaa jira a scaphocephaly-ka loo yaqaan, sanka godan, bushimaha qaro weyn, carrabka waaweyn, fooddiisa uga yaacday, qoorta gaaban iyo muujinta a caan ku wajiga. Dusha, waxaa runtii u eg yahay habka ugu muujinayaan Gargoyles mythological.

Sidoo kale, waxay soo gaabisay, xabadka, feeraha taag, waxaa jira calaamado kyphosis, laabatooyinka (gaar ahaan faraha iyo suxullada) waa firfircoonayn, waxaa laga yaabaa in Sheelada inguinal iyo xudunta. Cidiyaha heli karaan nooca muraayadaha watch, timaha noqdo adag oo qalalan, codkii - hooseeyo iyo sahashan. Fursada lumis maqal ama xataa dhago. Bukaanka inta badan xanuunsado tan iyo suuska ilkaha, kaas oo keena Hurler syndrome.

Calaamadaha waxaa ka mid ah cudurada of nidaamka neef-mareenka, maxaa yeelay, ilmaha waxaa loo neefsashada afka, wuxuu u muuqday adenoids, waa u nugul cudurada viral. Waqti ka, uu horumariyo caan dhibaatooyinka Mucopolysaccharidosis leh beerka iyo beeryarada (sabab u tahay caloosha kordhay), dementia.

Kobaca weli undersized. Sababo la xiriira dherer aan sax ahayn iyo cuuryaannimo dhabarta, bukaanka tagaan on lugaha laaban yihiin, on tiptoe.

Hurler syndrome leedahay dabeecad malignant horusocod ah, sidaas darteed bukaanka naafo aad u deg deg ah ku dhacdaa. Qaar badan oo ka aadan ku noolaan xataa 10 sano.

Baadhista xanuunada

bukaanka waa in loo sameeyo daraasadaha hidde clinical, shucaaca, lagmamaarmaanna, abtirsiinta iyo kelli. Cilad la sameeyo on daliilka kiliinikada ee cudurka, oo ku salaysan waxbarashada iyo falanqaynta kaadida, wixii la goostay by dhaqdhaqaaqa enzyme oo Digo of glycosaminoglycans X-ray.

daaweynta mucopolysaccharidosis ah

Haddii bukaanka ah waxaa lagu gartaa "Hurler syndrome" daaweynta ku lug dheer astaamaha. Bukaanka ayaa lagu arkay lafaha adag, qalliin, dhakhtarka carruurta, uguu, a qofkale, neurologist iyo indhaha. Bukaan-maray saxo lafaha ah cudurada nidaamka muruqyada, ka saar Sheelada ah loola dhaqmo si joogta ah kala kulantay bukaanadaan cudurada viral, maqal la'aanta, otitis, hogaga. Sidoo kale dhaco iyada oo ay kormeerayaan nidaamka wadnaha.

daawooyinka hormoonnada isticmaalay in si ku meelgaar ah loo hagaajiyo xaaladda bukaanka:

• glucocorticoids,
• corticotropin,
• tireoidin.

Intaa waxaa dheer, bukaan ayaa muujinaya vitamin A, dextran 70, kuwaas oo ku meel gaar ah loo hagaajiyo xaaladda bukaanka. horumar-gaaban siinayaa diyaarinta shubo plasma dhiigga.

syndrome Hurler marka bukaanka ahaan loogu talo galay daaweynta dabiiciga ah: Electrophoresis lidazy on degaanka ee kala goysyada saameysey, dalool laser, therapy magnetic, oo bad la shito. Sidoo kale, bukaanka waxaa lagu dhiirigelinayaa in ay galaan ama jimicsiyo, jimicsi taas oo saameyn ku kala goysyada iyo dhabarta. natiijo fiican inta badan siiya massage.

Tan iyo bukaanka Hurler syndrome nugul yihiin cudurka neefsashada, waa in la sameeyaa waqtiga iyo Axdigu cudurka sanation in afka iyo bacaraarka.

Waayo, daaweynta nooca mucopolysaccharidosis 1 qalliinka inta badan lagu sameeyaa - badalida corneal iyo sixida cudurka wadnaha valvular iyo xannibmi karo dareemayaasha. In dhaqanka caalamiga, marka lagu daro daawooyinka lagu daweeyo calaamadaha, daaweynta dabiiciga ah ama isticmaalka qaliin ah therapy enzyme iyo istaajiyo badalida cell.

Haddii loo baahdo, bukaanka waxaa lagu fuliyaa gryzheissecheniya, qanjirada, hawlgalka antiglaucomatous, tracheostomy, goysyada misigta bedalay, boodo yiraahdo hydrocephalus, iwm ..

Odoroska

Saadaasha waa allifey oo loogu talagalay Hurler syndrome iyo noocyada kale in mucopolysaccharidosis leeyihiin. Hurler syndrome waxa lagu gartaa quusan ugu weyn. isbedel lafaha sannad ka baxa sannadda, iyadoo ay sabab u ah xubnaha iyo nidaamyada ku xiran yihiin xadgudubyada la taaban karo oo dheeraad ah. Haddii uu ilmuhu u dhinto oof-wareen da'da hore, by 7-12 sano waa ciirsi jidh ahaan iyo maskax naafada ah. Si dhallinyarannimada unit live.

ka hortagga

Looga hortago cudurka waa wax aan macquul aheyn. Laakiin aad u ogaan karaa goor hore - cudurka marka dhalmada. Si taas, falanqayn unugyada amniotic la'aanta enzyme sameeyo (in ay dhacdo natiijada wanaagsan ee uurka ilmo iska soo ridid ah waxaa lagula talinayaa).

Sababo la xiriira cudurka hore iyo daaweynta waqtiga kaas oo diyaariyey riixo laf-ilaalin kartaa waxyeellada joogtada ah dareemayaasha. qasabka ah in la-talin caafimaad iyo hidde ka hortagga.

saadaasha daaweynta

In kasta oo dhibaato ah marka la eego daaweynta Hurler syndrome, ee 20-kii sano ee la soo dhaafay in dalal badan oo horumaray, dhuuxa lafta, kaas oo si weyn u wanaajinaya tayada nolosha ee bukaanka. In ka badan 10 sano loo isticmaalo daaweynta bedelka daroogada lagu daaweyn jiray nooc kasta mucopolysaccharidosis ah ma maskaxda ah.