Hurler kuti chirwere: Zvinokonzera, Mushonga uye Picture

Mucopolysaccharidosis - zita zvinowanzovapo zvinoverengeka chisingawanzowaniki zvirwere zviri majini ari mavambo. Zvokurwara hwapedyo nokuda kwokushayiwa mumuviri nedzimwe makemikari kuti vabatsire nokuputsanya kwemafuta uye makabhohaidhiretsi kupinda nyore mamorekuru. Nyaya ino inokurukura mucopolysaccharidosis kutaipa 1 - Hurler syndrome.

zvikonzero

Hosha iri nhaka munzvimbo autosomal recessive nenzira. Inokudziridza nokuda anomalies pamusoro mucopolysaccharides exchange.

pathogenesis

Mucopolysaccharidosis chokuita inonzi lysosomal zvirwere okuchengetera. Somugumisiro kushayiwa lysosomal makemikari ari catabolism pamusoro glycosaminoglycans zvakaoma. Vanounganidza munyama uye zvomukati, kukanganisa muviri wayo nehurongwa. Pakutanga pane marangwanda kukundwa uye kunonoka kwomuviri.

External zviratidzo uye zviratidzo

Zviratidzo zviri chirwere zvinozarurwa muchimiro pfupa urema, connective, cartilaginous munyama. The chikuru Pakanzi - kukura retardation. chiratidzo ichi inogona kuonekwa pamberi vamwe, kazhinji pakazopera gore upenyu rokutanga, zvinova pachena kuti mwana haakuri.

Mucopolysaccharidosis Zvinogonekawo kuti tisafunge, kuona zvinonyadzisa pameso hazvishandi. In varwere rurimi guru, gipertelozirm (kure yakawandisa pakati aiwanzopiwa wokushanda zvomukati, kana ichi pakati pameso), akaremara hura, huma overhangs, curved mazino.

Zviratidzo zvinosanganisira mucopolysaccharidosis thorax deformation, akaratidza kyphosis pamusoro thoracolumbar nomuzongoza. In kuitisa x-mwaranzi zvinogona kuonekwa vakurumidze Ossificação em occipito-parietal suture Ossificação em zvirwere pasina nuclei.

Kazhinji, chirwere achabatsirwa zvava kundiomera kufambisa muviri yacho mapfundo, abdominal hernias, hepatosplenomegaly (akawedzera chiropa uye chirwatata nokuda pathological pezvakaitwa kuti zvinoitika somugumisiro chirwere).

On chikamu Neurology akacherekedza gwenya retardation uye hypotonia. Uyewo, kana paine kwakaderera mucopolysaccharidosis kunzwa uye kuderera yenjere kusvikira zvikuru dementia. Nokuda zvomukati mberi systemic skeletal maronda uyewo pasi vachivavhiringidza pakawanda.

mhando mucopolysaccharidosis

Kune mhando dzakawanda zvirwere zvakasiyana kwokuomerwa pfupa kuchinja uye zvinetso zviri psyche:

• I - Hurler syndrome.
• II - Washington Well syndrome (Hunter).
• III - Sanfilippo syndrome.
• IV - Morquio Syndrome.
• VI - Maroto chirwere - Lamy.
• VII - pusa syndrome.

The nokupesana zvokurapa tsika munyika dzakasiyana-siyana anogona anosiyana. In mhando V kazhinji dzoga Scheie syndrome. The American inofanira mukopolisaridozami kurwara yakakamurwa kwokuomerwa zviratidzo wokutanga mhando, uye pane phenotypes matatu: Hurler urwere, Scheie urwere, uye zvenguva pakati Hurler chirwere - Sheye (kusanganisira Hurler yakaomesesa, Sheye - nyore).

Hurler urwere

chimiro ichi kunoitika kakawanda kupfuura vamwe, uye akarondedzerwa kare dzimwe syndromes. Uyewo, chiremba mufananidzo kupfuura mavara uye aiita marudzi ose mucopolysaccharidosis.

Hurler kuti chirwere kunokonzerwa nezvakaitika autosomal recessive nhaka. Izvi Chirwere kunoratidzwa akurumidze chaizvo mberi. Pasinei nokuti pakutanga mhando zvakafanana wechipiri mucopolysaccharidosis (Gunther, kana Hunter), chirwere yakaoma. Kokutanga fomu iri inorondedzerwa 1919 Gertrud Hurler (uye naizvozvo yakarurama zita - Hurler urwere, Hurler haana). The kakawanda chiitiko - imwe nyaya 20-25 zviuru vanhu, uye kakawanda vabereki njodzi mwana zvinofambidzana neropa. Saka kana uri chirwere "Hurler chirwere", zvikonzero vanofanira kutarisa majini chechetere. Zviratidzo kuonekwa anenge pakarepo pashure pokuberekwa, uye kwemakore maviri kunotoda mufananidzo kare zvakazara akaratidza.

Hurler kuti chirwere - munhu chaiwo nekuratidza chirwere. Sezvo chirwere DZEMUNHU DZINODZORA kukura, akaratidza pachena opacity ari cornea, ari nasal ropa midziyo dzakayerera. In chimiro ichi chirwere muna X-ray dzinogona kuonekwa kuwedzera sella, vachigurisira uye kuwedzerwa mapfupa refu, vertebral hypoplasia, uye tinoshandisa mashoko lumbar nharaunda (anonzi hove vertebrae), kuti vertebral mbiru deformation (varwere vanotambura thoracolumbar nomuzongoza kyphosis uye lordosis). Tangai zvokurwara pakati kumwoyo - tsinga coronary arteries siyana mavharuvhu, myocardium, endocardium, mwoyo zvakunokura kukura.

Nemuumbi hydrocephalus, mhaka dziri deposits zviri mucopolysaccharides vari meninges. Rinotsanangurwa foci kuti demyelination. Mucopolysaccharides uyewo iiswe chiropa, chirwatata, renal tubular epithelium; the retina, sclera, cornea ziso; masero etsinga, shwashwa.

Vana vanoberekwa vaine maitiro nechitarisiko - vane pachangu chaizvo, zvinonyadzisa chiso features, ndokusaka rimwe zita mukopolisaharoidozov - gargoilizm (kubva pashoko "gargoyle" - tarenda mufananidzo kujairwa pameso hazvishandi), kusanganisira anonzi, uye Hurler syndrome. Photos, iyo inoratidza varwere zvakajeka zvinoratidza noshamisa kukanganisa pameso hazvishandi mwana. vana ava achinja dehenya - zvinoda pezvakaita keel muchikepe, pane inonzi scaphocephaly, mungarava mhino, miromo paukobvu, rurimi guru, pamawere huma, mutsipa pfupi uye anozivikanwa zvaanoita chiso chake. Nechokunze, izvozvo here sokuti nzira kutotaura rengano Gargoyles.

Uyewo, ivo Makatapudza mubhokisi, mbabvu yakaderera protrude, pane zviratidzo kyphosis, zvipfundo (kunyanya minwe uye emaoko) vari vakaneta, angava inguinal uye achiine rukuvhute heniya. Zvipikiri vanogona kuwana mhando varindi magirazi, bvudzi anova nesimba uye akaoma, inzwi - yakaderera uye husky. Mukana kunzwa kurasikirwa kana kunyange kusanzwa. Varwere vanowanzotambura kubva mazino, izvo hunokonzera Hurler syndrome.

Zviratidzo zvinosanganisira zvirwere kufema ezvinhu, nekuti mwana uyu kufema nomuromo, akazviratidza adenoids, zviri asingatani kutapukirwa noutachiona. Nokufamba kwenguva, akava hunhu Mucopolysaccharidosis nezvinetso chiropa uye chirwatata (nokuda vawedzere dumbu), dementia.

Growth anoramba undersized. Nokuda sizvo Chimiro uye deformities ari nomuzongoza, varwere kuenda makumbo hwakakungwa, pamusoro tiptoe.

Hurler chirwere vane mberi akaipa hunhu, saka varwere urema kunoitika nokukurumidza chaizvo. Vakawanda havana kurarama kusvikira makore 10.

Diagnostics

Murwere anofanira nditongerei kurapwa, radiological, nemakemikari, dzemadzinza uye samolecular nemagene zvidzidzo. Chirwere chinoitwa pamusoro kurapwa kuratidzirwa chirwere, kwakavakirwa X-ray zvidzidzo uye kuongorora weti, zvakatemwa kubudikidza enzayemu basa uye excretion pamusoro glycosaminoglycans.

Mabatirwo mucopolysaccharidosis

Kana murwere chirwere "Hurler chirwere" kurapwa kunosanganisira refu symptomatic. The murwere kuchengetwa kunzwisisa vachibatsira, chiremba, chiremba, otolaryngologist, mumwe neurosurgeon, wetsinga uye ophthalmologist. Varwere ndavhiyiwa vachibatsira nokururamiswa zvinetso zviri zvetsandanyama nemapfupa ezvinhu, kubvisa heniya kubatwa kakawanda vasangana Varwere izvi zvinokonzerwa nemavhairasi zvirwere, kusanzwa, otitis, sinusitis. Uyewo inowira pasi pokudzora kumwoyo.

Used hormone mishonga kwenguva pfupi kuvandudza mamiriro murwere:

• glucocorticoids,
• corticotropin,
• tireoidin.

Mukuwedzera, murwere rinoratidza vhitamini A, dextran 70, izvo kwekanguva kuvandudza mamiriro murwere. kuvandudzika pfupi kunopa plasma kuwedzerwa gadziriro.

Hurler urwere kana murwere anogona kupiwa physiotherapy: Electrophoresis lidazy pamusoro nzvimbo njodzi mapfundo, Laser ponji, rinobva kurapa, Paraffin namabhati. Uyewo, varwere vanokurudzirwa kuita panyama kurapa, kurovedza izvo zvinokanganisa mapfundo nomuzongoza. Migumisiro yakanaka anowanzopa masaja.

Sezvo Hurler chirwere varwere kubatwa kufema chirwere, anofanira nenguva akaita sanation hweHIV foci pamuromo uye nasopharynx.

Nokuti pakurapa mucopolysaccharidosis mhando 1 kazhinji akaita oparesheni - corneal transplantation uye kururamiswa chemwoyo valvular uye tsinga entrapment. In tsika dzakawanda, kuwedzera symptomatic kurapwa zvinodhaka, physiotherapy kana kushandisa enzayemu kurapa Kuvhiya uye chokumisa muchitokisi transplantation.

Kana zvakakodzera, murwere rinoitwa gryzheissecheniya, adenoidectomy, antiglaucomatous kuvhiyiwa, tracheostomy, prosthetic hudyu majoini, hydrocephalus shunt, etc ..

mataridzikiro

The kushurudzira iri vanoshorwa kuti Hurler chirwere uye dzimwe mhando dzine mucopolysaccharidosis. Hurler chirwere kunoratidzwa mukuru mwoyo. skeletal kuchinja gore kuwedzera gore, somugumisiro pakati nadzo uye hurongwa inozviisa zvikuru kutyorwa. Kana mwana akafa nemabayo vachiri vaduku, nemakore 7-12 zviri kuzvibatsira mumuviri nomupfungwa nevakaremara. To Kuyaruka mhenyu chikwata.

dziviriro

Kudzivisa chirwere hazvibviri. Asi iwe unogona kuona nayo achiri Danho - kana pamuviri kuongorora chirwere. Kuti aite izvi, ane kuongorora Líquido masero kuti enzayemu kushaikwa (kune zvakanaka Zvaizobuda pamuviri pamuviri inokurudzirwa).

Nokuda mangwanani chirwere uye nenguva kurapwa raikura musana compression angarega zvechigarire manzwiro. kwairayirwa mune zvokurapa uye Genetic Counseling kuti muzvidzivirire.

kurapwa Zvaifungidzirwa

Pasinei nezvinetso zviri tichitarisa pakurapa Hurler urwere, mumakore 20 makore akawanda dzakabudirira, mumwe mwongo nokuisazve, izvo yekudyidzana anovandudza upenyu wevarwere. Anopfuura makore 10 aishandisa zvinodhaka yokutsiva kurapa nokuda pakurapa kwose mucopolysaccharidosis kwete chetsinga.