Syndrome Hurler akuti: Zoyambitsa, Kuchiza ndi Chithunzi

Mucopolysaccharidosis - dzina wamba angapo a matenda kawirikawiri ndi chibadwa choyambiriracho. Kudwala akufotokozera chifukwa cha kusowa mu thupi la michere ena kuti kuthandiza kugwetsa mafuta ndi chakudya mu mamolekyulu yosavuta. Nkhaniyi ikufotokoza mucopolysaccharidosis lembani 1 - syndrome Hurler.

zifukwa

Matendawa tinatengera mu autosomal unsembe recessive. Akufotokozera chifukwa anomalies wa mucopolysaccharides kuwombola.

pathogenesis

Mucopolysaccharidosis chikukhudza otchedwa lysosomal matenda yosungirako. Chifukwa cha kuperewera kwa michere lysosomal zovuta catabolism wa glycosaminoglycans. Iwo kudziunjikira mu zimakhala ndi ziwalo, kusokoneza thupi ndi machitidwe ake. Mu malo oyamba pali mafupa a kugonjetsedwa ndi kuchedwa kukula.

zizindikiro kunja ndi zizindikiro

Zizindikiro za matenda anawonetseredwa mu mawonekedwe vuto fupa, connective, cartilaginous zimakhala. Waukulu mbali - kukula retardation. Chizindikiro chimenechi angathe kuonedwa pamaso pa anthu, kawirikawiri ndi kutha kwa chaka choyamba cha moyo, zimaonekeratu kuti mwana kungokhala pamodzimodzi.

Mucopolysaccharidosis n'zothekanso kuganiza, kuona zinthu coarse nkhope. Odwala ndi lilime lalikulu, gipertelozirm (kwambiri mtunda pakati pa ziwalo wophatikizidwa, mu nkhani iyi pakati pa maso), makutu opunduka, mphumi overhangs, yokhota kumapeto mano.

Zizindikiro monga mucopolysaccharidosis thorax mapindikidwe, anasonyeza kyphosis a msana thoracolumbar. Kuchititsa x-ray angathe kuonedwa ossification msanga occipito-parietal matenda suture ossification popanda mtima.

Nthawi zambiri, matenda limodzi ndi kusuntha pang'ono zimfundo ndi, hernias m'mimba, hepatosplenomegaly (kukulitsa a chiwindi ndi ndulu chifukwa njira pathological zimene zimachitika chifukwa cha matenda).

Pa mbali ya ubongo amalembedwa galimoto retardation ndi hypotonia. Komanso, pamene pali kufooka mucopolysaccharidosis kumva ndi kuchepa kwa nzeru mpaka maganizo kwambiri. Chifukwa ziwalo mwapang'onopang'ono zokhudza zonse zotupa chigoba anaikanso kuti chisokonezo amakhala osiyana.

mitundu ya mucopolysaccharidosis

Pali mitundu ingapo ya matenda zosiyana zovuta kusintha fupa ndi matenda a psyche ndi:

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

Kudulidwa mu machitachita mankhwala a m'mayiko osiyanasiyana zingasiyane. Mu mtundu V zambiri olekanitsidwa syndrome Scheie. Ammudzi American akudwala mukopolisaridozami kugawidwa ndi zovuta zizindikiro za mtundu woyamba, ndipo alipo phenotypes atatu: Hurler matenda, matenda Scheie, ndipo mungafike pakati syndrome Hurler - Sheye (kuphatikizapo Hurler yakula, Sheye - chophweka).

syndrome Hurler

mawonekedwe Izi zimachitika kawirikawiri kuposa ena, ndipo wakhala anafotokoza kale syndromes ena. Komanso, matenda chithunzi cha kwambiri zokongola ndi ankaikira mitundu yonse ya mucopolysaccharidosis.

syndrome Hurler a amayamba ndi autosomal recessive cholowa. Mtundu wa matenda amakhala ndi patsogolo mofulumira kwambiri. Ngakhale kuti mtundu woyamba ndi lofanana ndi mucopolysaccharidosis chachiwiri (Günther, kapena Hunter), ndi matenda zovuta. Kwa nthawi yoyamba yotere limafotokonzera 1919 Gertrud Hurler (ndipo choncho dzina lolondola - Hurler syndrome, Hurler ayi). Pafupipafupi yatsoka - umodzi wa anthu 20-25 zikwi, ndipo nthawi zambiri makolo a mwana wathuyo ndi okhudzana ndi magazi. Kotero ngati inu amapezeka ndi "Hurler syndrome", zifukwa ayenera kuyang'ana pa mlingo chibadwa. Zizindikiro kuwonekera pafupifupi nthawi yomweyo pambuyo pa kubadwa, ndi kwa zaka ziwiri matenda chithunzi kale anafotokoza bwinobwino.

Hurler ndi matenda - kumasonyeza tingachipeze powerenga za matendawa. Monga matenda kubweza pansi kukula, anatchula Kuwonekera mwina diso, ndi amphuno Mitsempha zikusefukira. Mu mawonekedwe a matenda a X-ray angathe kuonedwa kuwonjezeka sella, zowononga ndi kutambasuka kwa mafupa yaitali, vertebral hypoplasia, ndi sharpness wa dera lumbar (otchedwa nsomba vertebrae), ndi vertebral ndime mapindikidwe (odwala zowawa thoracolumbar msana kyphosis ndi lordosis). Yambani kudwala a dongosolo mtima - yatsekera mitsempha inatsekeratu zosiyanasiyana mavavu, myocardium, endocardium mtima umakhala kukula.

Amowabu hydrocephalus, chifukwa cha ndiwo miyala ya mucopolysaccharides mu meninges lapansi. Tanthauzo foci wa demyelination. Mucopolysaccharides komanso waikamo mu chiwindi, ndulu, aimpso epithelium tubular; diso, sclera, diso la diso; maselo mitsempha, chichereŵechereŵe.

Ana amabadwa ndi maonekedwe khalidwe - iwo ali achirendo kwambiri, coarse nkhope, nchifukwa chake wina dzina mukopolisaharoidozov - gargoilizm (kuchokera ku mawu "gargoyle" - chithunzi wosangalatsa ndi zinthu zachilendo nkhope), kuphatikizapo otchedwa ndi matenda Hurler. Photos, zomwe zikuonetsa odwala bwino zikusonyeza chodabwitsa kupotozedwa nkhope mwana. ana akusintha chigaza - zimatengera mawonekedwe a muyezo wa mwadiya, pali otchedwa scaphocephaly, olowa mphuno, milomo wandiweyani, lilime lalikulu, phompho pamphumi lalifupi khosi ndi khalidwe nkhope mawu. Kunja, izo kwenikweni zikuwoneka ngati njira yosonyeza Gargoyles m'nthano.

Komanso adzafupikitsidwa chifuwa, nthiti za m'munsi protrude, pali zizindikiro za kyphosis, zimfundo (makamaka zala ndi elbows) ali wofooka, kungakhale inguinal ndi umbilical chophukacho. Misomali angathe kukhala mtundu wa magalasi maso, tsitsi yolimba ndi youma, mawu - otsika ndi husky. Chance kumva imfa kapena kusamva. Odwala zambiri amadwala mano, kamene kamayambitsa matenda Hurler.

Zizindikiro monga matenda a dongosolo kupuma, chifukwa mwana uyu ndi kupuma ndi pakamwa, anaonekera adenoids, izo sachedwa matenda tizilombo. Patapita nthawi, anayamba khalidwe la mavuto Mucopolysaccharidosis ndi chiwindi ndi ndulu (chifukwa kuchuluka m'mimba), maganizo.

Growth amakhalabe undersized. Chifukwa thunthu lolakwika ndi deformities msana, odwala kupita pa miyendo wopindidwa, pa tiptoe.

Hurler syndrome ndi kupata khalidwe loopsa, kotero odwala chilema amapezeka mofulumira kwambiri. Ambiri sapulumuka ngakhale zaka 10.

diagnostics

Wodwala ayenera kuiperekeza matenda, radiological, amuzolengedwa, mibadwo ndi maselo maphunziro chibadwa. Matendawa amapangidwa pa mawonetseredwe matenda a matenda, zochokera maphunziro X-ray ndi kusanthula mkodzo, amene anatsimikiza ndi ntchito enzyme ndi excretion wa glycosaminoglycans.

mankhwalawa mucopolysaccharidosis

Ngati wodwala matenda "Hurler syndrome" mankhwala kumafuna yaitali symptomatic. Wodwala zimawonedwa mu mafupa zovuta, dokotala, dokotala, otolaryngologist, ndi neurosurgeon, katswiriyu ndi maso. Odwala anakumana mafupa kuwukonza matenda a dongosolo minofu ndi mafupa, kuchotsa chophukacho ankachitira kawirikawiri anakumana odwala awa matenda tizilombo, kumva imfa, otitis, sinusitis. Komanso kugwa kuyang'aniridwa ndi chitetezo cha mtima.

m'thupi mankhwala ntchito kuti yochepa kusintha wodwalayo:

• glucocorticoids,
• corticotropin,
• tireoidin.

Komanso wodwalayo limasonyeza vitamini A, dextran 70, lomwe mongoyembekezera kusintha wodwalayo. kusintha yochepa amapereka plasma magazi kukonzekera.

Hurler syndrome pamene wodwala akhoza anatumizidwa physiotherapy: Electrophoresis lidazy pa malo zimfundo akhudzidwa, laser puncture mankhwala maginito, paraffin osambira. Komanso, odwala akulimbikitsidwa kuchita mankhwala thupi, kokoka imakhudza zimfundo ndi msana. zotsatira zabwino limapereka kutikita.

Popeza odwala Hurler syndrome atengeke matenda kupuma, ayenera yake anachita sanation matenda foci m'kamwa ndi nasopharynx.

Zochizira mucopolysaccharidosis mtundu 1 zambiri opaleshoni - corneal kupatsidwa zina ndi chilangizo cha matenda valvular mtima ndi entrapment mitsempha. Zochita lonse, kuwonjezera mankhwala symptomatic mankhwala, physiotherapy kapena opaleshoni ntchito mankhwala enzyme ndi maselo kupatsidwa zina.

Ngati ndi kotheka, wodwalayo ikuchitika gryzheissecheniya, adenoidectomy, ntchito antiglaucomatous, tracheostomy, apulasitiki mafupa m'chiuno, hydrocephalus shunt, etc ..

kaonedwe

The Mapa ndi kusalabadira kwa Hurler syndrome ndi mitundu ina kuti ndi mucopolysaccharidosis. syndrome Hurler amakhala ndi maganizo kwambiri. kusintha chigoba chaka ndi kuwonjezeka chaka, chifukwa cha ziwalo ndi machitidwe imvera kuyan'anila zofunika kwambiri. Ngati mwana wamwalira ndi chibayo ali aang'ono, ndi zaka 7-12 ndi njakata thupi ndi maganizo olumala. Kuti unyamata moyo unit.

kupewa

Popewa matenda ndi zosatheka. Koma mukhoza kudziwa izo pa siteji oyambirira - matenda pamene akalandire chithandizo. Kuti tichite zimenezi, Khadili maselo amniotic vuto enzyme (mu nkhani ya ziyende bwino mimbayo mimba tikulimbikitsidwa).

Chifukwa matenda oyambirira ndi mankhwala yake kumene msana psinjika angapewe kuwonongeratu mitsempha. lamulo uphungu kuchipatala ndi chibadwa kupewa.

Zoneneratu chithandizo

Ngakhale kuti mwa mawu a mankhwala a matenda Hurler, mu zaka 20 zapitazi m'mayiko ambiri olemera ndi mafupa kumuika, amene kwambiri bwino khalidwe la moyo odwala. zaka zoposa 10 ntchito mankhwala m'malo mankhwala zochizira a mitundu yonse mucopolysaccharidosis osati ubongo.