Hurler Syndrome: Izimbangela, Ukulapha Isithombe

Mucopolysaccharidosis - igama elivamile eziningi izifo ezingavamile ukuthi kukhona zofuzo wolimi. Pathology eba ngenxa yokuntuleka emzimbeni enzyme ethile ezisiza sokudiliza amafutha kanye carbohydrate zibe amangqamuzana elula. Lesi sihloko sixoxa mucopolysaccharidosis uthayiphe 1 - Hurler syndrome.

izizathu

Lesi sifo sitholwa njengefa ku-autosomal ngendlela esikhubazayo. Kutfutfukisa ngenxa anomalies ka mucopolysaccharides exchange.

pathogenesis

Mucopolysaccharidosis iphathelene okuthiwa lysosomal izifo USB. Ngenxa nokuntuleka lysosomal enzyme kuyinto catabolism enzima glycosaminoglycans. Zinqwabelanisa kwezicubu futhi izitho, zikhala umzimba nezinhlelo zawo. Endaweni yokuqala kukhona skeleton kokunqotshwa futhi imisiwe ukuthuthukiswa ngokomzimba.

izimpawu zangaphandle kanye nezimpawu

Izimpawu zesifo ziyabonakala ngesimo ithambo ukukhubazeka, zezinzwa, izicubu cartilaginous. The main isici - ukukhula retardation. Lokhu uphawu kungatholakala phambi kwabanye, ngokuvamile ekupheleni konyaka wokuqala wokuphila, kuba sobala ukuthi ingane efanele.

Mucopolysaccharidosis zingenza ukuba singaphethi, ngibona izici indawo ebusweni. In iziguli ngolimi ezinkulu, gipertelozirm (ibanga kakhulu phakathi kwezitho abhanqiwe, kulesi simo phakathi kwamehlo), izindlebe sikhubazekile, ebunzini overhangs, namazinyo agobile.

Izimpawu zihlanganisa mucopolysaccharidosis ukusonteka thorax, uzwakalise kyphosis yomgogodla thoracolumbar. Ekuqhubeni x-reyi kungatholakala Ukuqina sekuyenzeka nisebancane occipito-parietal suture Ukuqina sekuyenzeka iziyaluyalu ngaphandle nuclei.

Ezimweni eziningi, lesi sifo kuhambisana ukuhamba elilinganiselwe emalungeni, hernias besisu, hepatosplenomegaly (ukukhulisa kwesibindi kanye ubende ngenxa izinqubo sokugembula ezenzeka ngenxa sifo).

On the ingxenye Neurology imakwe motor retardation futhi hypotonia. Futhi, uma kukhona buthakathaka mucopolysaccharidosis ukuzwa futhi ukwehla intelligence kuze obangwa. Ngenxa izitho zangaphakathi okuqhubekayo letindzala izilonda lwamathambo ngaphansi yokuphazamiseka degrees obuhlukahlukene.

izinhlobo mucopolysaccharidosis

Kunezinhlobo eziningana izifo ezingalingani kobukhulu izinguquko ezenziwe ngethambo nezenziwe iziyaluyalu psyche:

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

Lesi sigaba ku zokwelapha lamazwe ahlukahlukene ingehluka. Ngo uhlobo V ngokuvamile bebodwa Scheie syndrome. Umphakathi American mukopolisaridozami ogulayo ehlukaniswa kobukhulu izimpawu Uhlobo lokuqala, futhi kukhona phenotypes ezintathu: Hurler syndrome, Scheie syndrome, futhi Lesisemkhatsini phakathi Hurler syndrome - Sheye (kuhlanganise Hurler sekukaningi, Sheye - elula).

Hurler syndrome

Leli fomu kwenzeka njalo uma ziqhathaniswa nezinye, futhi iye yachazwa ngaphambili nezinye syndromes. Ngaphezu kwalokho, isithombe emitholampilo ye okucebile ejwayelekile zonke izinhlobo mucopolysaccharidosis.

Hurler Syndrome kubangelwa i autosomal ifa esikhubazayo. Lolu hlobo isifo elinesimo wathuthuka ngokushesha kakhulu. Naphezu kweqiniso lokuthi uhlobo lokuqala kufana mucopolysaccharidosis yesibili (Gunther, noma Hunter), iyisifo eziyinkimbinkimbi. Ngokokuqala ngqá leli fomu achazwa 1919 noGertrud Hurler (ngakhoke igama elifanele - Hurler syndrome, Hurler hhayi). Imvamisa nesenzakalo - eyodwa uma izinkulungwane zabantu 20-25, futhi ezimweni eziningi abazali ingane ethintekayo zihlobene ngegazi. Ngakho uma uxilongwe "Hurler syndrome", izizathu kudingeka sibheke ezakhini zofuzo. Izimpawu avele cishe ngokushesha ngemva kokuzalwa, futhi ngonyaka ezimbili isithombe emtholampilo kakade ukuthi ngokugcwele.

Hurler Syndrome - wawubonakalisa zakudala lesi sifo. Njengoba isifo kubambezela ukukhula, wabonisa opacity okusobala cornea, le acinene imithambo yegazi zichichima. Kuleli fomu lesi sifo-X ray kungatholakala ukunwetshwa sella, kunciphisa nokwandiswa amathambo eside, hypoplasia vertebral, futhi nokucija esifundeni lumbar (okuthiwa izinhlanzi amathambo), i-vertebral ikholomu ukusonteka (iziguli ahlupheke thoracolumbar emgogodleni kyphosis futhi lordosis). Qala zokugula we esimiso senhliziyo nemithambo yegazi - avimbekile nemithambo yegazi yenhliziyo ziyahlukahluka valve, myocardium, endocardium, inhliziyo ikhula ngobukhulu.

iphimbo emakiwe, imbangela okuyizinto idiphozithi yanoma mucopolysaccharides ku meninges. foci echaziwe demyelination. Mucopolysaccharides futhi zibekwe isibindi, ubende, kwezinso epithelium ijabulise; i-retina, sclera, i-cornea esweni; njengoba amangqamuzana ezinzwa e, uqwanga.

Izingane ezizalwe ukubukeka - banalo eyinqaba kakhulu, izici indawo ebusweni, yingakho elinye igama mukopolisaharoidozov - gargoilizm (kusuka elithi "gargoyle" - sibalo kumnandi izici engavamile ebusweni), kuhlanganise okuthiwa, futhi Hurler syndrome. Ama ifotho, ebonisa iziguli sifanekise ngokucacile ukufiphala oluyinqaba nezici zobuso ingane. Lezi zingane ushintshe skull - kuthatha ukuma keel esikebheni, kukhona okuthiwa scaphocephaly, ekhaleni lushone, izindebe awugqinsi, ulimi ezinkulu, ebunzini emaweni, intamo esifushane Inkulumo isici ebusweni. Ngaphandle, abaprofethi bamanga ke ubukeka ngempela indlela zibonisa Gargoyles basezinganekwaneni.

Futhi baye mfushane esifubeni, izimbambo ephansi aphume ashone, zikhona izimpawu kyphosis, emalungeni (ikakhulukazi iminwe futhi izindololwane) abapholile, kungase kube hernia inguinal futhi enkabeni. Izipikili angakuthola uhlobo lokubuka izibuko, izinwele kuba nzima futhi omile, izwi - ongaphakeme futhi Husky. Ithuba ukulahlekelwa kukuzwa noma izithulu. Iziguli ngokuvamile uhlushwa ukubola kwamazinyo, elibangela Hurler syndrome.

Izimpawu zihlanganisa izifo umgudu wokuphefumula, ngoba lo mntwana is ukuphefumula ngomlomo, wabonakala adenoids, ekuthanda izifo ezibangelwa amagciwane. Ngokuhamba kwesikhathi, waba nobuntu Mucopolysaccharidosis nezinkinga isibindi ubende (ngenxa esiswini lenyuke), komqondo.

Ukukhula uhlala undersized. Ngenxa kwesiqu engalungile futhi sengozini yomgogodla, iziguli hamba ngemilenze bent, ku tiptoe.

Hurler syndrome zinenkinga okuqhubekayo uhlamvu abulalayo ukuze iziguli ukukhubazeka kwenzeka ngokushesha kakhulu. Abaningi abazi asinde ngisho nasezimweni 10 iminyaka.

ukuhlola

Isiguli kufanele ukuqhuba lwasemtholampilo, umonakalo omkhulu obangelwa imisebe, kwamakhemikhali, ngokwezizukulwane kanye yamangqamuzana izifundo zofuzo. Sifo senziwe ukubonakaliswa basemtholampilo isifo, esekelwe-X-ray izifundo kanye nokuhlaziywa umchamo, okuyinto kunqunywa umsebenzi enzyme futhi kukhuthaza ka glycosaminoglycans.

ekwelapheni mucopolysaccharidosis

Uma isiguli sekutholakele ukuthi sine- "Hurler syndrome" yokwelapha ihilela eside lingaze. Isiguli is ebonwe wamathambo eziyinkimbinkimbi, udokotela ohlinzayo, udokotela wezingane Otolaryngologist, udokotela ohlinza izinzwa, udokotela wezinzwa futhi ophthalmologist. Iziguli kwavele ukulungiswa wamathambo kuphazamiseka uhlelo zemisipha, ukususa hernia iphathwa njalo nazo kulezi iziguli izifo ezibangelwa amagciwane, ukulahlekelwa kukuzwa, otitis, sinusitis. Futhi uwela ngaphansi kokuqondisa yisimiso senhliziyo nemithambo yegazi.

izidakamizwa ezisetshenzisiwe hormone ngcono okwesikhashana ngezimo zesiguli:

• glucocorticoids,
• corticotropin,
• tireoidin.

Ngaphezu kwalokho, isiguli libonisa uvithamini A, dextran 70, okuyinto ngcono okwesikhashana ngezimo zesiguli. Ukuthuthukiswa esifushane unika plasma ukumpontshelwa amalungiselelo.

syndrome Hurler lapho isiguli singasetshenziswa eyabelwe Physiotherapy: electrophoresis lidazy ku endaweni emalungeni ethintekile, laser wokubhoboza, ukwelashwa kazibuthe, upharafini nokugeza. Futhi, iziguli bayakhuthazwa ukuba bahlanganyele elashwe ngokomzimba, ukuzivocavoca ezithinta amalunga omzimba nomgogodla. Imiphumela emihle ngokuvamile linikeza massage.

Njengoba iziguli Hurler syndrome ukungenwa yizifo zokuphefumula, kumele ngesikhathi esifanele wenziwa sanation ukutheleleka foci emlonyeni nasopharynx.

Ukuze ekwelapheni mucopolysaccharidosis uhlobo 1 ukuhlinzwa ababevame ukucula - ukufakelwa corneal yokulungiswa valvular isifo senhliziyo futhi izinzwa ukubhajwa. Ngo umkhuba ngamazwe, ngaphezu lingaze ukwelashwa izidakamizwa, Physiotherapy noma ukuhlinzwa ukusetshenziswa ukwelashwa enzyme futhi ekunqandeni iseli ukufakelwa.

Uma kudingekile, isiguli wenziwa gryzheissecheniya, adenoidectomy, ukusebenza antiglaucomatous, tracheostomy, wokufakelwa hip amalunga omzimba, shunt iphimbo, njll ..

ukuba nombono ongafani ngeke

Isibikezelo okungekuhle for Hurler syndrome nezinye izinhlobo ukuthi abe mucopolysaccharidosis. Hurler syndrome libhekene yithemba enkulu. izinguquko lwamathambo unyaka ukwanda ngonyaka, ngenxa izitho futhi izinhlelo angaphansi yokuphula obubaluleke kakhulu. Uma ingane ishona pneumonia esemncane, ngeminyaka 7-12 ke alukwazi ukuzisiza ngokomzimba futhi okhubazeke ngokwenqondo. Esikhathini sobusha iyunithi bukhoma.

zokuvimbela

Vikela lesi sifo ayinakwenzeka. Kodwa ungakwazi ukuthola ke ngendlela efanele usaqala - uphethwe lapho besakhulelwe. Ukuze wenze lokhu, ukuhlolisiswa amaseli amniotic ngoba enzyme ukuntula (esimweni lokhu kwakuyoba nomphumela omuhle ukukhulelwa isisu Kunconywa).

Ngenxa ekuhlonzweni nasekwelashweni ngesikhathi esifanele lapho lakhiwa umgogodla intambo kokucindezelwa ungagwema unomphela impumuzo. obligatory ukwelulekwa wezokwelapha kanye zofuzo zokuvimbela.

Isibikezelo sezulu sezinsuku ukwelashwa

Naphezu kobunzima babantu base ngokuya ekwelapheni Hurler syndrome, kule minyaka engu-20 emazweni amaningi athuthukile, ukufakelwa umnkantsha, okuyinto kakhulu ngcono izinga lempilo iziguli. Eminyakeni engaphezu kwengu-10 esetshenziswa yokwelapha izidakamizwa esikhundleni ukwelapha zonke izinhlobo mucopolysaccharidosis hhayi zezinzwa.