Syndrome o Hurler: Take, Treatment me Pikitia

Mucopolysaccharidosis - te ingoa noa o te maha o nga mate onge e te hunga ira i roto i te takenga. whakawhanake māuiuitanga e tika ana ki te kore o roto i te tinana o te etahi whākōkī e tauturu i wahia iho te ngako, me te warowaihā ki ngā rāpoi ngota ohie. matapaki ana tēnei tuhinga pato mucopolysaccharidosis 1 - Hurler syndrome.

take

riro te mate i roto i te tikanga ngoikore autosomal. whakawhanake te reira e tika ana ki kōhikohiko o utu mucopolysaccharides.

pathogenesis

pā ana Mucopolysaccharidosis ki pera-ka karanga lysosomal mate rokiroki. Ka rite ki te hua o te hē o whākōkī lysosomal he catabolism uaua o glycosaminoglycans. kohikohi ratou i roto i nga kopa me okana, ia mutu te tinana me ona pūnaha. I roto i te wahi tuatahi i reira ko te kōhiwi o te hinga, me te whanaketanga ā-tinana whakaroa.

tohu me tohu waho

E whakakitea Tohu o te mate i roto i te puka o kohakore wheua, tūhonohono, te kopa cartilaginous. Ko te matua āhuatanga - retardation tupu. Ka taea te kitea i tēnei tohumate ki te aroaro o nga etahi, te nuinga i te mutunga o te tuatahi o nga tau o te ora, riro te reira mārama e akaaka te tamaiti te.

Mucopolysaccharidosis hoki taea ki te amo, i te kitenga makaka āhuatanga kanohi. I roto i te tūroro ki te arero nui, gipertelozirm (rawa nui tawhiti i waenganui i nga okana takirua, i roto i tenei take i waenganui i nga kanohi), taringa i hira ake, matotoru rae, niho niao ki.

Tohu ngā mucopolysaccharidosis deformation ãpoko, faaite kyphosis o te tuaiwi thoracolumbar. I roto i te whakahaere x-hihi taea te kitea ossification taimi halá, occipito-kōpako disorders suture ossification kahore karihi.

I roto i te nuinga o te wā, haere tahi te mate e iti nekeneke o te hononga, hernias puku, hepatosplenomegaly (whakarahi o te ate, me te kōateate tika ki tukanga pathological e puta rite ki te hua o te mate).

I runga i te wahi o Neurology tohua nekeneke retardation me hypotonia. Ano, i te mea he vaivai o rongo mucopolysaccharidosis me te heke o te maramarama noa tupu nui. Nā ki whekau i raro hoki ahu whakamua pāpaka kōhiwi nahanaha ki raruraru i roto i te rerekē nekehanga.

momo o mucopolysaccharidosis

He maha ngā momo o mate e rerekē te pakeke o huringa wheua me disorders o te konä:

• Ahau - Hurler syndrome.
• syndrome Günter (Hunter) - II.
• III - Sanfilippo syndrome.
• IV - Morquio Syndrome.
• VI - Maroto syndrome - Lamy.
• VII - syndrome Fakahēvaní.

Ko te wehenga i roto i nga mahi hauora o whenua ngā kia rerekē. I roto i te momo V te tikanga taratahi Scheie syndrome. Ko te hapori American ko wehea e te pakeke o tohu o te momo tuatahi mukopolisaridozami mate, a reira e toru tohuāhua: Hurler syndrome, Scheie syndrome, a takawaenga i waenganui i Hurler syndrome - Sheye (tae atu Hurler faingata'a, Sheye - te māmā).

Hurler syndrome

puta tenei puka atu pinepine atu i etahi, ka kua whakaahuatia i mua atu syndromes. I tua atu, i te pikitia haumanu o te ātaahua tino me angamaheni o ngā momo katoa o mucopolysaccharidosis.

meinga syndrome o Hurler e te kainga ngoikore autosomal. āhuatanga tēnei momo o te mate e te ahunga whakamua rawa tere. Ahakoa te meka e te momo tuatahi he rite ki te mucopolysaccharidosis tuarua (Gunther, Hunter ranei), ko te mate matatini. Hoki te wā tuatahi whakaahuatia tenei puka i roto i 1919 e Gertrud Hurler (a reira te ingoa tika - Hurler syndrome, Hurler kore). Ko te auau o te tupu - kotahi take o 20-25 mano iwi, a i roto i te nuinga o te wā e pā ana te matua o te tamaiti pāngia i te toto. Na, ki te e pāngia koe ki "syndrome Hurler", Me nga take ki te titiro i te taumata ira. puta Tohu tata tonu i muri i whanau, me ki te pikitia haumanu tau-rua kua tino whakahuatia.

syndrome o Hurler - te faaiteraa matarohia o te mate. Ka rite ki te mate pōturi tupu iho, tohu te Āheiō kitea o te taupoki io, te nasal oko toto waipuke. I roto i tenei ahua o te mate i roto i te X-ray e taea te kitea roha Tira, shortening me te toronga o wheua roa, hypoplasia vertebral, me mata o te rohe lumbar (pera-ka karanga pekehoe ika), te deformation tīwae vertebral (tūroro mamae kyphosis tuarā thoracolumbar me lordosis). A haamata māuiuitanga o te pūnaha Cardiovascular - tanumia iatuku pūngākau rerekē vaolo, myocardium, endocardium, tupu te ngakau i roto i te rahi.

wairoro tohua, te take o nei he putunga o mucopolysaccharides i te meninges. aronga tautuhia o demyelination. takoto hoki Mucopolysaccharides i te ate, kōateate, epithelium tubular tākihi; etine, mā karu, taupoki io o te kanohi; ngā pūtau io, wheua ngohe.

E whanau tamariki ki te ahua huru - to ratou he rawa, motuhake rawa, āhuatanga kanohi matotoru, i te mea he aha tetahi ingoa mukopolisaharoidozov - gargoilizm (i te kupu "gargoyle" - he ahua fantastic ki ngā āhuatanga kanohi rerekē), tae atu ki te pera-ka karanga, a Hurler syndrome. Photos, e whakaatu nga tūroro mārama whakaatu te distortion rerekē o kanohi tamaiti āhuatanga. Enei tamariki ke te angaanga - e te reira te āhua o te takere o te poti, i reira te mea he pera-ka karanga scaphocephaly, ihu whakaukia, ngutu matotoru, arero nui, rae pari, kaki poto me te mata āhuatanga. Waho, te reira tino titiro rite te ara whakaatu Whakapapa Māori pūrākau.

Ano, kua poroa te pouaka ratou, nga rara raro protrude, i reira he tohu o kyphosis, nga hononga (rawa nga maihao, me nga tuke) he hohekore, kia whaturama inguinal me pito. Ka taea e whao whiwhi i te ahua o mōhiti mataaratanga, makawe riro pakeke, me te maroke, i te reo - iti, me te Husky. Chance o rongo mate noa turi ranei. mamae maha tūroro i te niho pirau, e ai Hurler syndrome.

Tohu ngā mate o te pūnaha romahā, no te mea kei te kupukupu tenei tamaiti i te mangai, ka puta ia adenoids, he reira e pängia ana ki te mate viral. Neke atu i te wa, whakawhanakehia ia āhuatanga o ngā raruraru Mucopolysaccharidosis ki te ate me te kōateate (e tika ana ki nui haere puku), tupu.

tonu undersized Growth. Nā ki hē roa me deformities o te tuaiwi, haere tūroro i piko waewae, i runga i tiptoe.

Hurler syndrome whai pūāhua mārere ahu whakamua, kia tino hohoro tūroro hauātanga puta. E rave rahi e kore e ora noa 10 tau.

tātaringa

Me whakahaere te manawanui te haumanu, radiological, matüora, whakapapa, me te rāpoi rangahau ira. hanga tātaritanga te i runga i faaiteraa haumanu o mate, e hāngai ana i runga i ngā akoranga X-ray, me te tātari o te mimi, whakaritea nei e mahi paru, me te excretion o glycosaminoglycans.

maimoatanga o mucopolysaccharidosis

Ki te pāngia tetahi manawanui te tā "Hurler syndrome" maimoatanga roa symptomatic. kitea te manawanui kei roto i orthopedic matatini, taote, tākuta tamariki, Kimi'anga, he roro, toketā neave me ophthalmologist. Nōna ka Tūroro ako orthopedic o disorders o te pūnaha musculoskeletal, tango i te whaturama tukinotia pinepine tūpono i roto i enei tūroro mate viral, rongo mate, otitis, pakohu kakā. Ano taka i raro i te te tirotiro o te pūnaha Cardiovascular.

taero hormonal whakamahia e poto whakapai ake i te huru o te manawanui:

• glucocorticoids,
• corticotropin,
• tireoidin.

I tua atu, whakaatu ana te manawanui huaora A, dextran 70, e poto te whakapai ake i te huru o te manawanui. whakapai ake wā-poto homai taka huhu toto wē.

syndrome Hurler ka taea te whakaritea te manawanui ki tua: Electrophoresis lidazy i te rohe o te hononga pāngia, taiaho poka, therapy autō, parawini pati. Ano, E ākina ana tūroro ki te whai wāhi i roto i te therapy tinana, mahi e pā nga hononga, me te tuarā. maha homai hua pai mirimiri.

Mai tūroro Hurler syndrome i haria ki te mate romahā, me kia wā whakamana aronga mate sanation i roto i te mangai, me te awa ihu.

Hoki te maimoatanga o mucopolysaccharidosis momo 1 pokanga maha whakamana - transplantation Corneal, me te ako o te mate ngakau valvular me karere entrapment. I roto i te mahi ao, i roto i te tua ki taero maimoatanga symptomatic, i tua whakamahi pokanga o therapy whākōkī ranei ka aukati transplantation pūtau.

Ki te tika, kawea te manawanui te gryzheissecheniya, adenoidectomy, mahi antiglaucomatous, tracheostomy, hononga huha prosthetic, whakanekeneke wairoro, etc ..

outlook

he kino hoki Hurler syndrome me ētahi atu puka e whai mucopolysaccharidosis te matapae. āhuatanga Hurler syndrome e te hepohepo rahi. E ngohengohe ana ki atu tino maumaui huringa kōhiwi i tau ki te tau hua, ka rite ki te hua o te okana me ngā pūnaha. Ki te mate te tamaiti o te kakā i te wawe tau, i te 7-12 tau ko reira rawakore tinana, a hinengaro hauā. E talavoú wae ora.

ārai

Ārai i te mate e taea. Ko taea kitea e koe i te reira i te wā wawe - tātaritanga ka prenatal. Ki te mahi i tenei, he tātaritanga o ngā pūtau waimatū mō te whākōkī hē (i roto i te take o te putanga pai o te hapūtanga tūtohutia te materoto te).

Nā ki te tātaritanga wawe me te maimoatanga wā i whakawhanakehia kōpeketanga ua taea te karo kino tūturu ki te raru. obligatory i roto i te tohutohu hauora, me te ira mō te ārai.

matapae maimoatanga

Ahakoa te uauatanga i roto i ngā o te maimoatanga o Hurler syndrome, i roto i te 20 tau e whakamutunga i roto i te maha whenua whakawhanakehia, he transplant wheua hinu wheua, i tino whakapiki i te kounga o te ora o tūroro. Neke atu i te 10 tau e whakamahia ana drugs whakakapi therapy mo te maimoatanga o ngā momo katoa o mucopolysaccharidosis kore neurological.