Louis-Bar syndrome: Calaamadaha, Cilad-iyo Daaweynta

Sida aad ogtahay, waxaa jira aan caadi ahayn badan koromosoomyada kala duwan, kuwaas oo la dhigay xataa utero. Daraasadda ku heley, kuwaas oo ku hawlan genetics. Sanadihii la soo dhaafay, arrintan oo ah dawada la firfircoon u horumariyo, si mustaqbalka dhow cudurada sida fududaan doonta in la ogaado loona daweeyo. Nasiib wanaag, caadi ahaanshaha kuwanu waa dhif iyo naadir. Waxaa la xidhiidha Baadhista uurjiifka wanaagsanaaday. Mid ka mid ah heley la xiriira koromosoomyada, waa Louis-Bar syndrome. Xaaladaha intooda badan, cudurka la ogaado in sannadka ugu horeeya ee nolosha ilmaha ee, laakiin mararka qaarkood waxa ay taasi keligeed dareemay keliya by 6-7 sano.

Louis-Bar syndrome - waa maxay cudurada this?

pathology waxay la xidhiidhaa a cilladaha lagu dhasho hidaha. Xaaladaha intooda badan, waxa la dhaxlay. telangiectasia Ataxia (Louis-Bar syndrome) waa mid aad u dhif ah. Cudurku wuxuu leeyahay calaamado gaar ah oo u oggolaan cudurka of cudurada this. Si aad u ogaado waxa dhabta ah, aad u baahan tahay golaha dhakhtarro, kuwaas oo xaqiijin doona ama ku doodeen joogitaanka cillad-daran.

Taariikhda iyo saf cudur

syndrome Tani waa dhif. Its inta jeer waa qiyaastii 1 marka loo per 40,000 dadweynaha. Waayo, markii ugu horeysay ee cudurka laga helay by haweenka saynisyahano Faransiis Louis-Bar. Syndromes caan cudurada ee, waxaa la isugu daray hal nosology. Tani waxay dhacday 1941. Ka dib markii dhawr ka badan kiisaska la helay adduunka oo dhan. Tan iyo markii ay cillad-waa mid aad dhif u ah, ma suurtowdo in la yidhaahdo usii waxa etiology ee syndrome ee Louis Bar. Waxaa la rumeysan yahay in muuqaalka kore ee cudurka ma ku xidhan tahay xaaladaha cimilada. Sidaa darteed, syndrome ka dhici karaan gobolada oo dhan. Intaa waxaa dheer, ma jiraan wax caddeyn that link lahaa dhacdooyinka dabaq bukaanka. Taasi waa, Louis-Bar syndrome wuxuu dhacaa la soo noqnoqoshada siman ee labada gabdhaha iyo wiilasha si isku mid ah.

Sababaha horumarka cudurka

horumarinta logu talagalay Tani waxaa la dhigay in bilaha ugu horreeya uurka. cudurka waxaa soo gudbiyo oo kaliya by xigta. syndrome The loola jeedaa autosomal disorder ah recessive hidaha. Taas macnaheedu waa in ilmaha dhaxli doonaa cudurka si sax ah, haddii labada waalid ay leeyihiin xadgudub ku ah koromosoomyada. Haddii yaab leh ayaa ka dhacdaa mid ka mid ah (iyadoon loo eegayn jinsiga), fursadda dhacdo of syndrome ee Louis-Bar at kid ah waa 50%. Sababta ugu weyn ee loogu talagalay waxaa isbeddel - waa xadgudub ku ah gacanta dheer ee koromosoom 11. Sababaha dhabta ah taas oo u horseedi in ay sida rearrangement hidde la aqoon. Laakiin tilmaamaysaa tiro ka mid ah waxyeelo, saamaynaya horumarka SNMna. Tani waxay ugu horrayn waa deegaanka (gaadhista walxaha sunta ah). Sidoo kale in bilaha ugu horreeya uurka waa stress aad u khatar ah.

Louis-Bar syndrome: pathogenesis cudurka

Sida ugu koromosoomyada dhasho, syndrome waxa ka mid ah dhowr ah xubnaha iyo nidaamka. The diirada u weyn ee cudurkan waa maskaxda iyo habka difaaca jirka aadanaha. Waxa kale oo jira fahmayaan iyo nabar maqaarka. All of daliilka kiliinikada ee cudurka waxaa la xiriira farsamo ee ay horumarka. In meesha ugu horeysa waxaa jira geeddi-side ee habka dhexe ee neerfayaasha. Magac ahaan, ataxia cerebellar. In qaybtan ka mid ah xubno ka ma yeeshaan (fiiloyin Purkinje iyo unugyada granular). cudura kale waa daliilka cutaneous la arki karo - telangiectasia. Waxaa loo kordhiyay weelashii kuwaas oo si gaar ah ugu hadlay wajiga (sclera duro, dhegaha, sanka). Ataxia cerebellum telangiectasia oo si wadajir ah waxaa loo yaqaan syndrome ee Louis Bar. Carruurta ku dhashay cudurka, waxaa lagu ogaan karaa in ka sano ee hore ee nolosha sida yaab leh ayaa muujiyey itaaldarrida jirka u daran (dib u dhac korriinka, qaabka aan degganayn, tabar-dari muruq).

Intaa waxaa dheer , pathogenesis ah cudurka waxa ka mid ah failure ee habka difaaca jirka (limfosaytis T). Carruurta ka cabanaya cudurka this, waxaa jira aplasia hypo- ama dhamaystiran oo thymus ah. Sidaas darteed ahaasho cell-dhexaadin this horumariyo aad u tabar daran oo aan awoodin in ay jidhka ka geeddi faafa ilaaliyo.

Calaamadaha ataxia-telangiectasia

Darnaanta sawirka caafimaad oo ku xiran tahay heerka uu hypoplasia cerebellar iyo qanjirka fargeeto. Tani go'aamiso sida ay u muujin doonaa Louis-Bar syndrome. Calaamadaha cudurka:

1. ataxia Cerebellar. syndrome Tani waxay u muuqato kale ka hor, sida caadiga ah ee sannadka ugu horeeya ee nolosha. Waxa uu noqdo dhawaaqaa bilowga ah ee madax banaan oo socda. Carruurta la ataxia cerebellar inta badan aan kor istaagi kara iyo sida caadiga ah u guurto. In xaaladaha wanaagsan more unsteadiness ee wiiqmin iyo gariirka ee addimmada waxay aad. Intaas waxaa sii dheer, calaamadaha dareemayaasha muujiyay in tabar-dari muruq, dysarthria kala duwan digrii (hadal isku qas) iyo strabismus.
2. Telangiectasia. daliilka cutaneous Louis-Bar syndrome waa khatar yar. caadi ahaan waxay isu muujin da'doodu u dhexeyso 3 ilaa 6 sano u dhexeeya. Telangiectasia - a qalintaanka la'egayah, kuwaas oo loo yaqaan "xididdada caaro". Inta badan oo kulligood waa la arki karo ee meelaha furan ee jirka, gaar ahaan wajiga. xididdada dhiigga furmo waxaa inta badan laga helo indhaha, sanka iyo dhegaha, iyo meelaha lugta ee gacmaha iyo cagaha.
3. Dalalkaasi in cudurada. Maaddaama ay jidhka difaaca daran ma qaadi karto wakiilada waxyeello ah ee iyaga u gaar ah. Sidaas darteed, ilmaha inta badan waxay yeeshaan cudurada kala duwan. Inta badan waa cudur joogto ah oo ah marinka neefsashada - pharyngitis, jidiinka dhuunta, qumanka, pneumonia.
4. geeddi socodka Neoplastic. Sababo hypoplasia thymic, ka mid ah geeddi-faafa, jirka uu noqdo mid u nugul cudurka kansarka. Inta badan waa burada ah hematopoietic iyo unugyada lymphoid. Haddii syndrome ee Louis-Bar in ilmaha waa cudurka oo sax ah, ka dibna waxaa mamnuuc ah in ionizing daaweynta shucaaca ee kansarka.

Garashada ataxia-telangiectasia

Garashada syndrome ee Louis Bara badanaa ma bixiso dhib weyn, sida calaamadaha ay yihiin kuwo gaar ah. Ka shakido cudurka wuxuu noqon karaa mid ka sano ee hore ee nolosha on sawirka caafimaad. calaamadaha dareemayaasha (ataxia cerebellar, tabar dhanka muruqa ah, gariirka iyo strabismus) si wadajir ah ula telangiectasia waa calaamad muujinaysa talagalay in lagu ogaado cudurada this.

Haddii aad ka shakisan syndrome a Louis-Bar waa lagama maarmaan in la tasho khabiiro badan. Ka mid ah iyaga: a neurologist, haragga, Oncologist, ku takhasusay cudurada faafa, endocrinologist iyo geneticist. Waxa intaa dheer in baaritaan kiliinikada, sameeyaa shaybaar iyo Baadhista xarkaha. Fuliyaan immunoassays, taas oo hoos u calaamadeysan ama maqnaanshaha total of waxyaalaha aasaaska ah ee difaaca gacanta (T hoos lymphocyte, immunoglobulin A, G). KLA The arkay leukocytosis iyo degdegsiimada heerka Kimikada erythrocyte, taasoo muujinaysa in caabuq ee jirka. Sidoo kale waa muhiim Baadhista iyo qalabka. Laab X-ray lagu sameeyaa (hoos u dhac ku size thymus), maskaxda MRI (geedi socodka side). Currently, marka lagu daro imtixanaadka caadiga ah, ku qaadeen hidde (baaritaan ku xadgudub ka dhan ah koromosoom 11), ku salaysan kuwaas oo dhigay ogaanshaha sax ah.

Daaweynta syndrome ee Louis Bar

Nasiib darro, daaweynta etiological of koromosoomyada aan hadda la horumariyo. Sidaa darteed, in cudurada waxaa loo sameeyaa oo keliya therapy astaamaha iyo la socodka joogtada ah ee bukaanka ah. Daaweyntu waxay marka hore waxaa loogu talagalay wanaajinta hawlaha nidaamka difaaca jirka. Tani waa lagama maarmaan si looga fogaado cudurada iyo geedi socodka buro. Waayo, kanu Ujeedada, isticmaalka diyaarinta gamma-globulin, iyo "T-activin". Iyadoo horumarinta cudurada bararka codsan wakiilada bakteeriyada iyo fayruska ka. Nasiib darro, ataxia cerebellar syndrome aan si buuxda loo daaweyn karo. Si aad u joojiso habka side loo isticmaalaa nootropics. In chemotherapy kansarka, oo waxay billaabeen inay si qaliin.

saadaasha ee nolosha syndrome ee Louis Bar

Inkastoo darnaanta cudurka, waxaa suurtagal ah in la kordhiyo oo loo fududeeyo nolosha ilmaha la ogaanshaha waqtiga iyo daaweynta. Waayo, kanu Ujeedada, therapy a palliative dadka bukaanka ah kuwan. Nasiib darro, ee cillad-Louis-Bar si deg deg ah horumarka karo. Xaaladdan oo kale, Filashada nolosha waa 2-3 sano. Mararka qaarkood cudurka ma yeeshaan dhowr sano. Isla mar ahaantaana cimri waxa si wayn u kordhay. da ugu badan ee dadka bukaanka ah waxaa loo arkaa inay 20-30 sano. Xaaladaha intooda badan sababa dhimashada yihiin geeddi socodka faafa iyo neoplastic, mararka qaarkood - xanuunada maskaxda ah.

Ka Hortagga syndrome Louis Bar

Si looga fogaado horumarinta cudurada this, waxaa lagama maarmaan ah si ay u fuliyaan baaritaanka hidaha ee ilmaha caloosha ku waa weli ku jira marxaladaha hore ee uurka. Waxaa kaloo muhiim ah in la ogaado taariikhda ma aha oo kaliya waalidka ilmaha, laakiin sidoo kale xubnaha kale ee qoyska. Inta aad uurka leedahay, aad u baahan tahay si looga fogaado in ay waxyeellada daran ee stress deegaanka iyo dareenka.

Haddii ilmaha la yaab leh sida uu dhasho, waxaa muhiim ah in la sameeyo oo dhan qoro, si ilmaha looga hortago waxii jeermis ah. Iyada oo difaac daciif ah iyo horumarka jireed oo yaraada waxaa lagama maarmaan ah in la ogaado syndrome ee Louis Bar. Photos of carruurta qabta cudurka loo arki karaa in suugaanta ee caafimaadka ee gaarka ah.