Friedreich's ataxia: zviratidzo, kuongororwa uye kurapwa

Ataxia chirwere chinoratidzwa mukutsvaga kwekufambisa, kutyora kwemaitiro nekumwe kuderera kwesimba mumakumbo. Rumwe rudzi nderwe Friedreich's family ataxia, iyo inowanzozivikanwa yeaadia inhaka. Inowanikwa kubva pa2 kusvika ku7 vanhu kubva kune 100 000.

Chirwere ichi chinowanzotanga muhuduku, pa2 kusvika gumi nemaviri ehupenyu (kunyange pane zviitiko apo inowanikwa mushure memakore makumi maviri). Kazhinji anaxia inobata nhengo dzemhuri dzinoverengeka - hama, hanzvadzi, uye munguva dzakawanda dzinowanikwa mumhuri dzine kuroorwa kweropa. Zviratidzo zvinoratidzika kusingaoneki, chirwere ichi chinopfuurira zvishoma, chinopera kwemazana emakore uye pasina kutarisirwa kwechiremba kunounza kunetseka kukuru.

Zviratidzo zvechirwere

Chiratidzo chikuru cheFriedreich's ataxia ndechekusatendeseka kwemu murwere. Anoenda asinganzwisisiki, anoisa tsoka dzake akadzika uye anotseuka kubva pakati kusvika kumativi. Apo chirwere ichi chinopfuurira, zvinetso zvekubatana zvinoratidzika kune maoko, pamwe chete nemisungo yebhokisi uye chiso. Mimicry inoshanduka, kutaura kunononoka, kunowedzera. Tendon uye periosteal reflexes inowanzoita kuderera kana kunyangarika (kutanga pamakumbo, ndokupararira kumaoko). Kazhinji kunzwa kunoderera. Progresses scoliosis.

Zvinokonzera chirwere chacho

Uyu rudzi rweatasia hunotora nhaka, rwechimiro chisingaperi, chechimiro chinopfuurira. Inoreva spinocerebellar ataxia, iyo iboka rezvirwere zvakafanana, rinokonzerwa nokukundwa kwecerebellum, brainstem, musana wemagunha uye musana wemagunha, izvo zvinowanzovhara chirwere chakakodzera. Zvisinei, pakati pemakwenzi etaxias, chirwere chaFriedreich chinoratidzwa nekuvapo kwemaitiro akawandisa, asi dzimwe mhando dzinoparadzirwa nemotokari yakakura. Izvi zvinoreva kuti mwana anorwara anoberekerwa mumurume nemudzimai apo vabereki vari kutakura pathogen, asi vane kliniki vane hutano hwakanaka.

Iyi akaxia inoratidzirwa nekusanganiswa kwakawirirana kwemashure ekupedzisira uye emapuranga emutsara, anokonzerwa ne-enzymatic-chemhematic anomaly yehupenyu husingawanzwiswi hwakatorwa. Muchirwere ichi, mapuranga eGaul, Clark pillar masero uye mushure mekupedzisira spinocerebellar nzira inoshandiswa.

"Nhoroondo yechirwere"

Chirwere cheFriedreich chakange chakaparadzana mune chimiro chakazvimiririra makore anopfuura zana apfuura nemuprofesa weGermany wezvokurapa N. Friedreich. Kubva kuma1860, chirwere ichi chave chichidzidza. Mushure mokunge muna 1982, zvakataurwa kuti chinokonzera awaxia iyi mitochondrial zvinetso. Somugumisiro, panzvimbo pezita rinowanzozivikanwa "Friedreich's ataxia", izwi rokuti "chirwere chaFriedreich" rakarongedzwa sezvinyatsoratidzira kuratidza kuwanda kwezvirwere zvezvirwere - zvose zveuropio uye zvekare-neural.

Neurological zviratidzo

Kana murwere ane Friedreich's ataxia, zviratidzo zvinonyanya kuonekwa pakutanga zvinotyisa uye kusava nechokwadi kana uchifamba, kunyanya murima, kudengenyeka, kugumburwa. Zvadaro kune ichi chiratidzo chinobatanidzwa kuvhenekera kwemakumbo okumusoro, kushaya simba kwemisungo yemakumbo. Pakutanga kwechirwere zvinokwanisika kushandura kunyora, dysarthria, mumutauro kune unhu hwekuputika, staccato.

Kudzvinyirirwa kwezvirwere (tendon uye yakanyanya-chepfu) zvinogona kuonekwa zvose panguva yekuratidzwa kwezvimwe zviratidzo, uye kwenguva refu pamberi pavo. Nekuwedzera kweaitasia, kazhinji zvinogoneka kuchengeta totali areflexia. Uyewo chiratidzo chakakosha chiratidzo cheBabinsky, musingafungidzire musimba, mune ramangwana misungo yemakumbo inowedzera simba, atrophy.

Zvimwe-neural neural manifestations nezvimwe zviratidzo zveatatiia

Skeletal deformations inofanirwa nechirwere chaFriedreich. Varwere vari pasi pe scoliosis, kyphoscoliosis, kukuvadza kweminwe nezvigunwe. Izvozvo zvinonzi Friedreich rutsoka (kana kuti Friedreich rutsoka) chinhu chinowanikwa muFriedreich's ataxia. Mifananidzo yemagodhi akafanana anopa kunzwisisa zvakajeka kuti kwakadaro kushandiswa hakusi kwechimiro chehupenyu hune utano: zvigunwe zvinogadziriswa zvakare mumakungwa makuru phalanges uye zvakasungirirwa muzvibatanidza mukati-kati pamwe nepamusoro concave arch yechiso. Shanduko imwechete inogona kuitika ne mabhurusi.

Uyewo, varwere vanozviisa pasi pezvirwere zvekupedzisira: vanowanzove nekuputsa kwakadai sechirwere cheshuga, chekuvhiringidzika kwemaawa, chirwere chekunyengedzera, hypogonadism, nezvimwewo. Kutadza kunokwanisika kune zvikamu zvinoonekwa.

Kana Friedreich's ataxia ichiongororwa, ipapo mune 90 muzana yematambudziko iye achave aine chirwere chemwoyo, kukurudzirwa kwechirwere chemoyo, zvikurukuru hypertrophic. Varwere vanonyunyutira kurwadziwa mukati memwoyo, palpitations, dyspnea nekurovedza muviri, nezvimwe. Anenge 50 muzana yevarwere vane chirwere chepfungwa sechikonzero chekufa.

Muchikamu chekupedzisira chechirwere, varwere vane amyotrophies, paresis, uye zvinetso zvekunzwisisa ruoko. Zvinokonzerwa kuderedza kunzwa, atrophy ye optic nerve, nystagmus, dzimwe nguva mabasa ezviputi zvakasvibiswa uye murwere anotambura nekunonoka kana, zvakasiyana, urinary incontinence. Nokufamba kwenguva, varwere vanorasikirwa nekodzero yekufamba uye kushumira ivo pachavo pasina rubatsiro rwokunze. Kunyange zvakadaro, kuora mitezo kwakaitika nemhando ipi neipi yeatasia, kusanganisira zvirwere zveFriedreich, hazvina kuonekwa.

Nekuda kwekutemerwa, nehosha yakafanana neyo Friedreich's cerebellar yakaxia, data yakarurama pairi asi: kune vanhu vakuru, kuora mwoyo kunoitika, zvinorondedzerwa, muvana inonyanya kushamisika, pamwe nekurasika kwepfungwa.

Matambudziko eAatasia

Hereditary ataxia Friedrejha kakawanda inowanzoomeswa nemoyo usingakundiki, uyewo marudzi ose ekufema kusakwanira. Mukuwedzera, njodzi yekudzokorora zvirwere zvinotapukira ndeyepamusoro kune varwere.

Zvirongwa zvekuongorora Friedreich ataxia

Nzira huru yekuongororwa kwechirwere haina kunyatsojeka:

• Nhaka yehosha iyi inowanzoitika;
• Chirwere ichi chinotangira makore makumi maviri nemashanu, kakawanda-muhuduku;
• Progressive ataxia;
• Tendon areflexia, kushaya simba uye atrophy yemitsipa yemakumbo, gare gare nemaoko;
• Kurasikirwa kwekunzwa kwakadzika kwekutanga kumativi ekumusoro, ipapo emakumbo ekumusoro;
• Kutaura zvakashata;
• Kusiyana kwemasaga;
• Matambudziko endocrine;
• Cardiomyopathy;
• Cataract;
• Atrophy yemutsipa wepelinha.

Muchiitiko ichi, DNA kuongororwa inosimbisa kuvapo kwechiremera chinoshaya.

Nyaya yekuongorora

Apo rinouya kune chirwere chakadai seFriedreich's ataxia, chirwere chacho chinofanira kusanganisira anamnesis, kuongorora kwakakwana kwehutano uye nhoroondo yemurwere nemhuri yake. Kunyanya kukoshesa kunobhadharwa kune zvinetso zvine hurongwa hwemitsipa, kunyanya kuenzanisa, kana uchitarisa mararamiro uye statics yomwana, kusakwanisa kwekufungidzira uye manzwiro muzvibatanidzwa. Murefu haakwanisi kubata bhokeri rebheji rakasiyana, anorasikirwa nemuedzo we palcenosal, anogona kutambudzika nekudengenyeka nemaoko akatambanudzwa.

Paunenge uchiedza kuongororwa kwera laboratory, pane kuputsa kwechitsinhanho che amino acids.

An electroencephalogram yeuropi muFriedreich's ataxia inoratidzira diffuse delta uye inta basa, kuderedza mu alpha rhythm. Munguva ye electromyography, kushandiswa kwe-axonal-kubvumira zvipembenene zvehutano hwemagetsi ehutachiona hunoonekwa.

Kuenzanisa kwemajeni kunoitwa kuti uone chiremera chinokwana. Nekubatsirwa kweDNA kuongororwa, zvinoita kuti uwane nhaka yepathogen nevamwe vana mumhuri. DNA yakaoma yakaongororwa kumhuri yose inogonawo kuitwa. Mune dzimwe nguva zviitiko zvekuberekwa kweDNA zvinotarisirwa zvinodiwa.

Paanoongororwa uye gare gare mushure mekuongororwa, murwere anodikanwa kuti atore nguva dzose x-ray mifananidzo yemusoro, musana, chifuva. Kana zvichidikanwa, kombiyuta uye magnetic resonance imaging inopiwa. Pamusoro peMRI yeuropi, munyaya iyi, zvinokwanisika kuchengeta atrophy yemutambo wemutsara wepelinha uye uropi, iyo yepamusoro yeperesium worm. Kuongorora uchishandisa ECG uye EchoEG kunokosha zvakare.

Kusiyanisa kutsvaga

Panoita kuti kuongororwa kunobatsira kusiyanisa chirwere chaFriedreich kubva kune multiple sclerosis, neural amyotrophy, mhuri paraplegia uye mamwe akaxia, zvikurukuru Louis-Bar, chirwere chechipiri kakawanda ataxia. Chirwere cheLouis-Bar, kana kuti telangiectasia, chinotangawo muhuduku uye chinoparadzaniswa nechipatara kubva kune chirwere chaFriedreich nekuvapo kwekukura kukuru kwemidziyo miduku, kusabatwa kwechikwata chemakumbo.

Izvo zvinodiwawo kusiyanisa chirwere ichi kubva kuBassen-Kornzweig syndrome uye ataxia inokonzerwa nekushayikwa kwevitamine E Muchiitiko ichi, pakuziva kuti zvakakosha kuziva vitamini E zvakagadziriswa, kuvapo / kusavapo kweacanthocytosis uye kuongorora lipid spectrum yayo.

Panguva yekuongororwa, zvakakosha kubvisa zvirwere zvinokonzerwa nehutachiona ne autosomal recessive type of inheritance, pamwe chete nemugwagwa-cerebellar ataxia wemamwe mafomu.

Misiyano pakati pe multiple sclerosis neFriedreich chirwere ndekusavapo kwetendonous areflexia, isina muscle hypotension uye amyotrophy. Uyezve, kune sclerosis, hapana humwe huwandu-neural manifestations, hapana kuchinja mu CT uye MRI.

Mushonga weattaia

Varwere vanowanikwa vane Friedreich ataxia vanofanira kupiwa kurapwa kubva kune unyanzvi hweukama. Kumwero mukuru, kurapwa kune chiratidzo, chinotarirwa pamusana pokubviswa kwezviratidzo zvechirwere. Inosanganisira chirwere chekudzorerazve, kusanganisira kutungamirirwa kweAATP, cerebrolysin, B mavitamini, uye anticholinesterase madhiragi. Mukuwedzera, mukurapa kweawayiia iyi, basa rinokosha rinotambiswa nemishonga ine basa rekuchengetedza mitochondria - se succinic acid, riboflavin, vitamini E. Riboxin, cocarboxylase, nezvimwe zvinorayirwa kuvandudza myocardial metabolism.

Kuvandudza kurapwa nemavhitamini kunoitwa. Mishonga inofanira kudzokororwa nguva nenguva.

Sezvo chirwere ichi ndicho chinokonzera kurwadziwa - kufambira mberi scoliosis, varwere vanoratidzwa vakapfekedzwa corset yemapfupa. Kana iyo corset isingabatsiri, maitiro akawanda ekuvhiya anoitwa (titanium rods inowanikwa mumumumumvuro kudzivirira kupfuurira mberi kwe scoliosis).

Zvose izvi zviyero zvinotarisirwa kuchengetedza mamiriro evarwere kwenguva refu zvichibvira nekudzikisa kufambira mberi kwechirwere.

Ataxia prognosis

Kutaura kwezvirwere zvakadaro hakuwanzwisisiki. Neuropsychiatric dambudziko rinowedzera zvishoma nezvishoma, nguva yechirwere ichisiyana zvakanyanya, asi muzviitiko zvakawanda haipfuuri makore makumi maviri nemasere mu 63% yevarume (nokuda kwevakadzi vanofanirwa kufungidzira zvakanaka zvikuru - pashure pokutanga kwechirwere, vanenge 100% vanorarama kwenguva refu kupfuura makore makumi maviri).

Zvinokonzera rufu zvinowanzonyanya kushaya mwoyo uye zvirwere zvisingaiti, zvinetso kubva kune zvirwere zvinotapukira. Kana murwere asingatamburi nechirwere cheshuga uye chirwere chemwoyo, hupenyu hwake hunogona kupera kusvikira makore apfuura, asi zviitiko zvakadaro hazviwanzoitiki. Kunyange zvakadaro, pamusana pekurapa zviratidzo, hutano uye nguva yeupenyu hwevarwere inogona kuwedzera.

Kudzivirira

Kudzivirirwa kwechirwere cheFriedreich kunobva pane zvehutano genetic counseling.

Varwere veAtaxia vanoratidzirwa kurapwa uye nhepfenyuro yemitambo, kuburikidza nemishonga inosimbiswa, kutsvaga kunopera. Kudzidzira munzvimbo yekutanga kunofanira kuve nechinangwa pakudzidzisa kuenzanisa uye simba remasumbu. LFK uye maitiro ekururamisa anoita kuti varwere vave vashandi kwenguva yakareba, uyezve, munyaya iyi, kukurudzirwa kwechirwere chemoyo kunodziviswa.

Mukuwedzera, varwere vanogona kushandisa zvishandiso zvinoshandiswa pakuvandudza mararamiro avo ehupenyu - kutamba tambo, walkers, strollers.

Mukudya zvinovaka muviri, unoda kuderedza kudya kwekhakhenijidhi kusvika 10 g / kg, kuitira kuti usakonzera kuwedzera kwechiremera chemagetsi emagetsi.

Uyezve zvakakosha kudzivirira zvirwere zvinotapukira, kwete kubvumira kukuvara nekudhakwa.

Chimwe chezvinhu zvinokosha zvekudzivirira zvirwere ndekudzivirira kutapurika kweatayia nehutano. Kana zvichibvira, dzivisa kuberekwa kwevana kana mhuri iine mhosva yeFriedreich's ataxia, pamwe chete neukama pakati pehama.