Louis-Bar syndrome: Cov tsos mob, kuaj thiab kho mob

Raws li koj paub, muaj ntau ntau yam sib txawv chromosomal txawv txav, uas yog muab tso txawm nyob rau hauv utero. Txoj kev tshawb no ntawm cov pathologies yog koom nyob rau hauv noob caj noob ces. Nyob rau hauv xyoo tsis ntev los no, qhov no thaj tsam ntawm cov tshuaj yog nquag tsim, yog li nyob rau hauv lub nyob ze yav tom ntej xws kab mob yuav tsum yooj yim rau kev tshawb nrhiav thiab kho. Qhov zoo ces, cov anomalies yog tsis tshua muaj heev. Nws yog txuam nrog paub me nyuam hauv plab diagnostics. Ib tug ntawm cov pathologies txuam nrog chromosomal txawv txav, yog Louis-Bar syndrome. Nyob rau hauv feem ntau tus neeg mob, tus kab mob no yog kuaj nyob rau hauv thawj xyoo ntawm tus me nyuam mos liab lub neej, tab sis tej zaum nws yuav ua rau nws tus kheej muaj tsuas los ntawm 6-7 xyoo.

Louis-Bar syndrome - dab tsi yog no pathology?

Qhov no pathology yog hais txog ib tug congenital genetic tsis xws luag. Nyob rau hauv feem ntau, nws yog pub. Ataxia telangiectasia (Louis-Bar syndrome) yog tsis tshua muaj tsis tshua muaj. Tus kab mob muaj ib cov tsos mob uas tso cai rau qhov mob ntawm no pathology. Yuav ua ib tug muaj tseeb mob, koj yuav tsum lub council ntawm cov kws kho mob, uas yuav paub meej tias yog refute lub xub ntiag ntawm ib tug txaus ntshai anomaly.

Keeb kwm thiab Epidemiology ntawm tus kab mob

Qhov no syndrome yog tsis tshua muaj heev. Nws zaus yog hais txog 1 ib 40,000 pejxeem. Rau cov thawj lub sij hawm tus kab mob no twb tshwm sim los ntawm Fabkis cov poj niam zaum Louis-Bar. Syndromes cov yam ntxwv ntawm cov pathology, nws yog tag nrho nyob rau hauv ib tug nosology. Qhov no tshwm sim nyob rau hauv 1941. Tom qab ib tug ob peb ntau tus neeg mob tau pom ib ncig ntawm lub ntiaj teb no. Vim qhov no anomaly yog heev tsawg, nws yog tsis yooj yim sua hais precision dab tsi lub etiology ntawm lub syndrome Louis Bar. Nws ntseeg hais tias cov tsos ntawm cov kab mob no yog tsis nyob rau climatic tej yam kev mob. Yog li ntawd, cov syndrome yuav tshwm sim nyob rau hauv tag nrho cov cheeb tsam. Nyob rau hauv tas li ntawd, muaj yog tsis muaj pov thawj hais tias yuav txuas nrog cov xwm txheej ntawm tus neeg mob plag tsev. Hais tias yog, Louis-Bar syndrome muaj tshwm sim nrog sib npaug zos zaus nyob rau hauv cov tub thiab cov ntxhais tib yam nkaus.

Cov ua ntawm tus kab mob loj hlob

Qhov no anomaly txoj kev loj hlob yog pw nyob rau hauv thawj peb lub hlis uas cev xeeb tub. Tus kab mob yog kis tau los ntawm succession. Lub syndrome hais txog ib tug autosomal recessive genetic teeb meem. Qhov no txhais tau tias ib tug me nyuam yuav tau txais tus kab mob no meej, yog tias ob niam txiv muaj ib tug ua txhaum ntawm chromosomes. Yog hais tias ib tug anomaly tshwm sim nyob rau hauv ib tug ntawm lawv (tsis hais poj niam txiv neej), lub sij hawm ntawm tshwm sim ntawm cov syndrome Louis-Bar ntawm cov me nyuam yaus yog 50%. Lub ntsiab yog vim li cas rau kev hloov - yog ib tug ua txhaum ntawm qhov ntev caj npab ntawm chromosome 11. Lub caij nyoog yam uas ua rau xws li ib tug kev tshuaj ntsuam genetic rearrangement yog tsis paub. Tab sis qhia ib tug xov tooj ntawm cov teeb meem los, rau embryonic txoj kev loj hlob. Qhov no yog feem ntau tej yam (raug tshuaj lom). Tsis tas li ntawd nyob rau hauv thawj peb lub hlis uas cev xeeb tub yog heev txaus ntshai kev nyuaj siab.

Louis-Bar syndrome: pathogenesis ntawm tus kab mob

Raws li nrog rau feem ntau congenital chromosomal txawv txav, lub syndrome muaj xws li ob peb nruab nrog cev thiab tshuab. Lub ntsiab lub hom phaj ntawm tus kab mob no yog lub paj hlwb thiab cov tib neeg tsis muaj zog. Muaj kuj yog ib tug qhia thiab daim tawv nqaij lesion. Tag nrho cov kev soj ntsuam kom paub txog tus kab mob yog txuam nrog rau cov mechanism ntawm nws txoj kev loj hlob. Nyob rau hauv thawj qhov chaw muaj kab dab nyob rau hauv lub central lub paj hlwb. Namely, cerebellar ataxia. Nyob rau hauv no ib feem ntawm hais tsis tsim (Purkinje fibers thiab granular hlwb). Lwm yam mob yog pom cutaneous ces - telangiectasia. Lawv ncua hlab ntsha uas yog tshwj xeeb yog cov lus hais ntawm lub ntsej muag (txhaj sclera, pob ntseg, qhov ntswg). Ataxia telangiectasia cerebellum thiab collectively paub raws li cov syndrome ntawm Louis Bar. Cov me nyuam yug los nrog tus kab mob no, yuav tsum tau qhia nyob rau hauv thawj xyoo ntawm lub neej raws li ib tug anomaly manifested mob lub cev tsis taus (kev loj hlob qeeb, tsis ruaj tsis khov hwj tau lub cev, cov leeg tsis muaj zog).

Nyob rau hauv tas li ntawd , cov pathogenesis ntawm tus kab mob muaj xws li cov tsis ua hauj lwm ntawm lub cev (T lymphocytes). Cov me nyuam txom nyem los ntawm no teeb meem, muaj yog hypo- los sis tag aplasia ntawm lub thymus. Raws li ib tug tshwm sim ntawm no cell-kho hom haum xeeb kev tiv thaiv tsim muaj zog heev thiab tsis muaj peev xwm los tiv thaiv lub cev los ntawm cov kab dab.

Cov tsos mob ntawm ataxia-telangiectasia

Cov heev ntawm tus soj ntsuam daim duab nyob ntawm cov neeg kawm ntawv ntawm cerebellar hypoplasia thiab diav rawg caj pas. Qhov no txiav txim yuav ua li cas nws yuav qhia Louis-Bar syndrome. Cov tsos mob ntawm tus kab mob:

1. Cerebellar ataxia. Qhov no syndrome manifests nws tus kheej ua ntej lwm tus, feem ntau yog nyob rau hauv thawj xyoo ntawm lub neej. Nws yuav qhia tau rau thaum pib ntawm ywj siab taug kev. Cov me nyuam nrog cerebellar ataxia feem ntau yuav tsis sawv ntsug thiab txav mus li qub. Nyob rau hauv qhov ntau paaj zaum lub unsteadiness ntawm moj yam thiab co ntawm cov nqua. Tsis tas li ntawd, neurological cov tsos mob qhia nyob rau hauv cov leeg tsis muaj zog, dysarthria zaubmov (hais lus tsis meej) thiab strabismus.
2. Telangiectasia. Cutaneous ces Louis-Bar syndrome yog tsawg txaus ntshai. lawv feem ntau yog manifest lawv tus kheej ntawm cov muaj hnub nyoog ntawm 3 mus rau 6 xyoo. Telangiectasia - ib tug dilated cov hlab ntsha, uas yog hu ua "kab laug sab leeg". Feem ntau ntawm tag nrho lawv yog pom nyob rau hauv lub qhib qhov chaw ntawm lub cev, tshwj xeeb tshaj yog nyob rau hauv lub ntsej muag. Dilated cov hlab ntsha muaj feem ntau pom nyob rau hauv lub ob lub qhov muag, qhov ntswg thiab pob ntseg, thiab flexor chaw ntawm lub ob txhais tes thiab ob txhais taw.
3. Propensity rau kab mob. Vim lub loj heev immunodeficiency lub cev yuav tsis tau tiv nrog qhov teeb meem ua hauj lawm ntawm lawv tus kheej. Raws li ib tug tshwm sim, tus me nyuam feem ntau tsim ntau yam kab mob. Feem ntau nws yog ib tug kab mob ntawm lub ntsws huam - pharyngitis, laryngitis, tonsillitis, mob ntsws.
4. Neoplastic dab. Vim thymic hypoplasia, cov kab dab, lub cev yuav raug rau mob cancer. Feem ntau cov feem ntau nws yog ib tug mob ntawm hematopoietic thiab lymphoid cov ntaub so ntswg. Yog hais tias lub syndrome Louis-Bar nyob rau hauv ib tug me nyuam yog ib tug siv tau mob, ces nws yog nruj me ntsis txwv tsis pub ionizing tawg kev kho mob ntawm cancer.

Mob ntawm ataxia-telangiectasia

Mob ntawm lub syndrome Louis Bara feem ntau tsis muab ib tug teeb meem loj, raws li nws cov tsos mob yog heev meej. Xav muaj tus kab mob muaj peev xwm ua tau tus thawj xyoo ntawm lub neej nyob rau tus soj ntsuam daim duab. Neurological cov tsos mob (cerebellar ataxia, npag tsis muaj zog, co thiab strabismus) ua ke nrog telangiectasia yog ib tug hais rau diagnosing no pathology.

Yog hais tias koj xav tias ib tug syndrome Louis-Bar yog tsim nyog los tham ob peb tshwj xeeb. Cov lawv: ib tug neurologist, dermatologist, oncologist, mob kab mob kws, endocrinologist thiab geneticist. Nyob rau hauv tas li ntawd mus soj ntsuam kev xeem, ua laboratory thiab instrumental diagnostics. Nqa tawm immunoassays, nyob rau hauv uas lub cim yuav txo tau los yog tag nrho tsis tuaj kawm ntawv ntawm cov ntsiab ntawm cov cellular tiv thaiv (T lymphocyte poob, immunoglobulin A, G). Lub KLA cai leukocytosis thiab ceev erythrocyte sedimentation tus nqi, uas qhia o nyob rau hauv lub cev. Nws tseem yog ib qho tseem ceeb thiab instrumental diagnostics. Siab X-ray yog ua (yuav txo tau nyob rau hauv thymus loj), MRI hlwb (degenerative dab). Tam sim no, nyob rau hauv tas li ntawd mus rau tus txheej txheem kev ntsuam xyuas, nqa tawm kev tshuaj ntsuam genetic (investigating ib kev yuam cai ntawm lub 11th chromosome), nyob rau lub hauv paus ntawm uas muab tso rau ib tug muaj tseeb kuaj mob.

Kev kho mob ntawm lub syndrome ntawm Louis Bar

Tu siab, lub etiological kev kho mob ntawm chromosomal txawv txav yog tsis tam sim no tsim. Yog li ntawd, nyob rau hauv no pathology yog ua tau tsuas yog symptomatic txoj kev kho thiab tu ncua saib xyuas ntawm cov neeg mob. Tus thawj kev kho mob yog aimed ntawm kev txhim kho cov hauj lwm ntawm lub cev. Qhov no yog tsim nyog yuav tsum tsis txhob mob thiab qog dab. Rau lub hom phiaj no, siv cov gamma-globulin npaj, thiab "T-activin". Nrog rau txoj kev loj hlob ntawm cov kab mob inflammatory thov antibacterial thiab antiviral agents. Tu siab, cerebellar ataxia syndrome tsis tau qoos kho. Yuav ua kom cov kab dab siv nootropics. Nyob rau hauv mob cancer kws khomob, thiab muaj resorted mus rau kev phais.

Cov raug rau lub neej nyob rau hauv lub syndrome ntawm Louis Bar

Dua li ntawm qhov hnyav ntawm tus kab mob, nws yog tau mus cuag thiab pab txhawb tus me nyuam lub neej nrog raws sij hawm mob thiab kev kho mob. Rau lub hom phiaj no, ib tug palliative txoj kev kho rau cov neeg mob no. Tu siab, lub anomaly Louis-Bar yuav vam meej sai sai. Nyob rau hauv cov ntaub ntawv no, lub neej expectancy yog 2-3 xyoo. Tej zaum tus kab mob no tsis tsim rau ob peb xyoo. Nyob rau tib lub sij hawm lub neej expectancy yog heev zog. Maximum muaj hnub nyoog ntawm cov neeg mob yog pom tias yuav tau 20-30 xyoo. Nyob rau hauv feem ntau qhov ua rau ntawm kev tuag yog kis thiab neoplastic dab, tej zaum - neurological ntshawv siab.

Kev tiv thaiv syndrome Louis Bar

Yuav kom tsis txhob muaj cov kev loj hlob ntawm no pathology, nws yog tsim nyog los nqa tawm kev tshuaj ntsuam genetic kev soj ntsuam ntawm lub fetus yog tseem nyob rau hauv thaum ntxov ua sawv ntawm cev xeeb tub. Nws tseem ceeb heev kom paub cov keeb kwm ntawm tsis tsuas yog cov niam txiv ntawm tus me nyuam, tab sis kuj cov neeg hauv tsev neeg. Thaum lub sij hawm uas cev xeeb tub, koj yuav tsum tsis txhob muaj cov teeb meem los ntawm ib puag ncig thiab kev nyuaj siab.

Yog hais tias ib tug me nyuam nrog rau tej kev anomaly yug los, nws yog ib qho tseem ceeb ua tag nrho cov tshuaj, los tiv thaiv tus me nyuam tiv thaiv kab mob nrog. Nrog ib tug tsis muaj zog tiv thaiv thiab impaired lub cev txoj kev loj hlob nws yog tsim nyog los tshawb nrhiav qhov syndrome Louis Bar. Cov duab cov me nyuam nrog tus kab mob no yuav pom nyob rau hauv tshwj xeeb kev kho mob cov ntaub ntawv.