Louis-Bar chirwere: Zviratidzo, kuongorora chirwere neMarapirwo

Sezvaunoziva, pane zvakawanda zvakasiyana chromosomal abnormalities, iyo kunyange utero. Kudzidza pathologies izvi zviri kuita genetics. Mumakore achangopfuura, nzvimbo iyi mushonga sohunobishairira yakatanga, saka munguva yemberi iri pedyo zvirwere zvakadai zvichava nyore rokuongorora uye kurapa. Sezvineiwo, anomalies ava mashoma chaizvo. Rinobatanidzwa paine fetus Diagnostics. Mumwe pathologies chokuita chromosomal abnormalities, ndiye Louis-Bar syndrome. Kazhinji, maperembudzi dzakaonekwa pagore upenyu mwana wokutanga asi dzimwe nguva zvinoita pacharo ainzwa chete nemakore 6-7.

Louis-Bar chirwere - chii zvokurwara ichi?

zvokurwara iri chokuita vachiberekwa vaberekwe vakaremara. Kazhinji, zvinonzi nhaka. Ataxia telangiectasia (Louis-Bar chirwere) iri apo neapo. The chirwere ane chaizvo zviratidzo kuti kubvumira chirwere kuti zvokurwara ichi. Kuti kuongororwa zvakarurama, unofanira parangano kuvarapi, uyo achasimbisa kana agodzivisa kuvapo kwazvo anomaly.

History uye epidemiology zvirwere

chirwere ichi hariwanikwi chaizvo. maitikiro Its anenge 1 nyaya pa 40.000 kwevanhu. Kokutanga chirwere sezvayakawanikwa ne French vakadzi masayendisiti Louis-Bar. Syndromes chakanangana zvokurwara, izvozvo unobatanidzwa imwe nosology. Izvi zvakaitika muna 1941. Pashure mashomanana nyaya yakawanikwa munyika. Sezvo anomaly ichi kushoma chaizvo, hazvibviri kutaura zvakarurama chii etiology pamusoro chirwere Louis Bar. It vaidavira kuti pakuonekwa chirwere hakutsamiri okunze. Naizvozvo, kuti chirwere unogona kuitika munharaunda yose. Uyezve, hapana uchapupu waizobatanidza pamwe kuitika murwere uriri. Kureva, Louis-Bar chirwere kunoitika pamwe maitikiro vakaenzana vakomana nevasikana zvakafanana.

The zvinokonzera chirwere kukura

Izvi anomaly budiriro akarara muna trimester akazvitakura rokutanga. Maperembudzi wakapiwa chete yakatevedzana. The chirwere inotaura autosomal recessive magene nyonganyonga. Izvi zvinoreva kuti mwana nhaka chirwere zvakarurama, kana vabereki vose vane kutyora okutodza. Kana anomaly kunoitika muna mumwe wavo (zvisinei chechikadzi), mukana panowanikwa chirwere Louis-Bar panguva nembudzana ndiyo 50%. Chikuru Chikonzero mutation - kutyora refu ruoko chromosome 11. Chaiwo zvinhu zvinoita kuti yakadaro majini rearrangement harizivikanwi. Asi rinozivisa dzinoverengeka zvinokonzerwa, bata embryo kukura. Izvi anonyanya zvezvakatipoteredza zvinhu (kuona chepfu yakaipisisa). Uyewo ari trimester pamuviri wokutanga kunetseka ngozi chaizvo.

Louis-Bar chirwere: pathogenesis chirwere

Sezvo navazhinji vachiberekwa chromosomal abnormalities, kuti chirwere zvinosanganisira zvakawanda nhengo uye hurongwa. The chikuru kunangwa chirwere ichi vari uropi uye masoja womunhu gadziriro. Panewo raidudzwa uye ganda lesion. Zvose zvekuchipatara zvinoratidza chirwere chokuita mashandiro ayo kukura. Pakutanga mune chinopedza pezvakaitwa nechepakati tsinga. Kureva, cerebellar ataxia. Muchikamu ichi zvinhu hakurevi kuva (Purkinje fibers uye masero granular). Mamwe matambudziko vari kuoneka cutaneous kuratidzwa - telangiectasia. Vari kumwezve midziyo kunyanya iziviswe pachiso (jekiseni sclera, nzeve, mhino). Ataxia telangiectasia cerebellum uye pamwe anozivikanwa seMagwaro urwere pakati Louis Bar. Vana vanoberekwa vaine chirwere, vangazivikanwa pamakore okutanga oupenyu sechinhu anomaly akaratidza kwazvo vakaremara (zvokukura pokumbononotswa, kusagadzikana mamiriro, tsandanyama simba).

Uyezve , mashoko pathogenesis chirwere chinosanganisira kukundikana zvirwere (T lymphocytes). Vana vanenge chirwere ichi, hapana hypo- kana zvakakwana aplasia yacho thymus. Somugumisiro kutapata ichi sero-yairevererwa dzakabudirira simba chaizvo uye asingakwanisi kudzivirira muviri kubva noutachiona kwendangariro.

Zviratidzo ataxia-telangiectasia

The kwokuomerwa ari kurapwa mufananidzo kunoenderana mwero cerebellar hypoplasia uye mhararano shwanu. Izvi anosarudza sei vacharatidza Louis-Bar syndrome. Zviratidzo zviri chirwere:

1. Cerebellar ataxia. chirwere ichi hworatidza pacharo pamberi vamwe, kazhinji mugore upenyu rokutanga. Anova iziviswe pakutanga kuzvimirira kufamba. Vana vane cerebellar ataxia kazhinji havagoni kusimuka uye kufamba zvakanaka. Ari nani. zviitiko unsteadiness pakati gait uye tremor maoko nemakumbo. Uyezve, chetsinga zviratidzo runoratidzwa tsandanyama simba, dysarthria kunosiyana madhigirii (kunokanganisika kutaura) uye strabismus.
2. Telangiectasia. Cutaneous kuratidzwa Louis-Bar chirwere zvisinganyanyi ngozi. kunowanzosanganisira anozviratidza pakati pemakore 3 6 makore. Telangiectasia - a dilated capillaries, iyo vanonzi "dandemutande mutsinga". Vazhinji vose vakanga vari kuoneka hayo nzvimbo muviri, kunyanya kumeso. Dilated tsinga kazhinji kuwanikwa mumaziso, mhuno uye nenzeve, uye flexor hukawanika kwamaoko uye tsoka.
3. Propensity zvirwere. Nokuda kwazvo immunodeficiency muviri havagoni kukurira zvinokuvadza vamiririri vavo. Somugumisiro, mwana kazhinji kuva zvirwere zvakasiyana-siyana. Kazhinji ndiwo chirwere of kufema turakiti - pharyngitis, laryngitis, tonsillitis, mabayo.
4. Neoplastic kwendangariro. Wakakodzera thymic hypoplasia, pakati zvirwere urongwa, muviri rinova kubatwa kenza. Kakawanda iri bundu kuti hematopoietic uye lymphoid tishu. Kana urwere Louis-Bar ari mwana ari chikonzero nechirwere, zvino ari zvaisambobvumirwa kuti ionizing nemwaranzi kurapwa kenza.

Chirwere kuti ataxia-telangiectasia

Chirwere of chirwere Louis Bara kazhinji haripi guru kuoma, sezvo zviratidzo aro kunyatsonanga chaizvo. Chifungidziro maperembudzi anogona kuva makore okutanga oupenyu pamusoro kunotoda mufananidzo. Chetsinga zviratidzo (cerebellar ataxia, tsandanyama simba, tremor uye strabismus) pamwe telangiectasia zvinoratidza kuti diagnosing zvokurwara ichi.

Kana uchifungidzira munhu chirwere Louis-Bar zvakakodzera kubvunza nyanzvi dzinoverengeka. Pakati pavo: chiremba wetsinga, dermatologist, oncologist, zvirwere nyanzvi, endocrinologist uye geneticist. Kuwedzera kunoda kurapwa kuongororwa, akaita rabhoritari uye richishanda Diagnostics. Aite immunoassays, umo waivapo rutapudzo kana zvachose kusavapo chinobatanidza cellular kutapata (machena anonzi T ane kuchembera, immunoglobulin A, G). The KLA akacherechedza leukocytosis uye nokukurumidza erythrocyte sedimentation zvazvingava, izvo zvinoratidza kuzvimba mumuviri. Zvinokoshawo uye richishanda Diagnostics. Chest X-ray rinoitwa (zvinoderedza thymus kukura), MRI uropi (chinopedza pezvakaitwa). Pari, kuwedzera kune mwero nemiedzo, akaita majini (kuferefeta kutyora chromosome wechi11), pahwaro vakaisa kuongororwa zvakarurama.

Pakurapa chirwere pakati Louis Bar

Sezvineiwo, etiological dambudziko chromosomal abnormalities hausi yakatanga. Naizvozvo, zvokurwara ichi rinoitwa chete symptomatic kurapa uye kuramba zvichiongororwa wevarwere. Chokutanga kurapwa nechinangwa kuvandudza kushanda zvirwere. Izvi zvakakodzera kudzivisa zvirwere uye bundu kwendangariro. Nokuti chinangwa ichi, kushandiswa rokugadzirira wegamma-globulin, uye "T-activin". With kukura anogumbura zvirwere kushandisa antibacterial uye antiviral nevamiririri. Zvinosuruvarisa cerebellar ataxia chirwere haigoni kubatwa zvakazara. Kumisa chinopedza pezvakaitwa vaishandisa nootropics. In kenza mishonga, uye akarwawo kuvhiyiwa.

The fungidziro youpenyu urwere pakati Louis Bar

Pasinei kwokuomerwa chirwere, zvinokwanisika kuti riwedzere uye aivabatsira upenyu hwomwana pamwe nenguva chirwere uye kurapwa. Nokuti chinangwa ichi, mumwe palliative kurapa varwere izvi. Zvinosuruvarisa kuti anomaly Louis-Bar mberi nokukurumidza. Panyaya iyi, upenyu anotarisirwa ndiwo makore 2-3. Dzimwe nguva chirwere asingadi kuva nemakore. Panguva iyoyo upenyu anotarisirwa ichiwedzerwa kwazvo. Kunonyanyisa zera wevarwere anonzi makore 20-30. Kazhinji zvinokonzera rufu anokurumidza kupararira uye neoplastic urongwa, dzimwe nguva - chetsinga zvirwere.

Kudzivirira chirwere Louis Bar

Kuti tidzivise kukura zvokurwara ichi, zvinokosha kuti tiite majini kuzviongorora mudumbu kuchiri mukutanga zvokukura pamuviri. Zvinokoshawo kuziva nhoroondo kwete chete vabereki mwana, asi dzimwe nhengo dzemhuri. Panguva pamuviri, unofanira kudzivisa zvinokonzerwa zvezvakatipoteredza uye mupfungwa.

Kana mwana ane anomaly akadaro azvarwa, zvakakosha kuita inonyorwa zvose, kuti adzivirire mwana pamusoro noutachiona nevamiririri. Ane simba kutapata uye havachanyatsogoni kwomuviri zvakafanira rokuongorora kuti chirwere Louis Bar. Photos vana vaine chirwere chinogona kuonekwa mabhuku ezvokurapa inokosha.