Louis-Bar syndrome: Izimpawu, Sifo Nokuselapha

Njengoba wazi, kunezindlela eziningi ezahlukene chromosomal kwezinso, ezibekwe ngisho utero. Ekuhloleni lezi pathologies bekwi zofuzo. Eminyakeni yamuva, kule ndawo lukazifozonke ayenziwa, ngakho esikhathini esizayo esiseduze izifo ezinjalo ngeke kube lula nokwelapha. Ngenhlanhla, lezi anomalies ezingajwayelekile kakhulu. Lihlobene nokubhekana ubuso ukuhlola ngcono kwe-fetus. Omunye pathologies ezihambisana ne chromosomal kwezinso, kuyinto Louis-Bar syndrome. Ezimweni eziningi, lesi sifo sitholakale onyakeni wokuqala wokuphila usana, kodwa ngezinye izikhathi kwenza ngokwayo wazizwa kuphela iminyaka 6-7.

Louis-Bar syndrome - siyini lesi zokugula?

Lokhu zokugula lihlobene ukukhubazeka azalwa naso zofuzo. Ezimweni eziningi, it is ngofuzo. Ataxia telangiectasia (Louis-Bar syndrome) kuyinto evamile. Lesi sifo inezimpawu eqondile evumela sitholakele lesi egunjini lokuhlolwa kwezifo. Ukushaya ukusazi ngokunembile isifo esikuphethe, udinga umkhandlu kodokotela, ngubani izoqinisekisa noma ukuphikisa khona anomaly esabekayo.

Umlando kanye Epidemiology yesifo

Lesi sifo ivelakancane. imvamisa yayo imayelana 1 icala ngalinye 40,000 labantu. Ngokokuqala ngqá sifo kwatholakala French abesifazane ososayensi Louis-Bar. Syndromes sici zokugula, it is kuhlangene kwelinye nosology. Lokhu kwenzeka ngo-1941. Ezimweni Ngemva ambalwa kwatholakala emhlabeni wonke. Njengoba lokhu anomaly ivelakancane, akunakwenzeka ukusho ngobuciko lokho etiology yalesi sifo Louis Bar. It babekholelwa ukuthi ukubukeka kwalesi sifo akuxhomekile esimweni sezulu. Ngakho-ke, lesi sifo kungavuka zonke izifunda. Ngaphezu kwalokho, abukho ubufakazi owawungase uhlobanise ne kwezehlakalo izibuya nesineke. Okungukuthi, Louis-Bar syndrome kwenzeka nge imvamisa belingana kokubili abafana namantombazane ngokufanayo.

Izimbangela ukuthuthukiswa isifo

Lesi senzakalo anomaly sibekwa senyanga yokuqala sokukhulelwa. Lesi sifo ngocansi kuphela ngokulandelana. Lesi sifo libhekisela autosomal esikhubazayo kofuzo. Lokhu kusho ukuthi ingane bayokudla ifa isifo ngokunembile, uma bobabili abazali ukuhlukumeza lezakhi zofuzo. Uma anomaly kwenzeka omunye wabo (kungakhathaliseki ubulili), amathuba nesenzakalo yalesi sifo Louis-Bar kid kuyinto 50%. Isizathu esiyinhloko kuguquka - kungukuphula ingalo eside chromosome 11. Izinto ngqo ukuthi ziholela rearrangement zofuzo ezifana ayaziwa. Kodwa ikhomba eziningana imiphumela elimazayo, ezithinta ukuthuthukiswa sombungu. Lena ngokuyinhloko yizici zemvelo (ukuchayeka ezinobuthi). Futhi engxenyeni yezinyanga ezintathu zokuqala zokukhulelwa ukucindezeleka kuyingozi kakhulu.

Louis-Bar syndrome: pathogenesis lesi sifo

Njengoba kwenzeka ngeningi azalwa naso chromosomal kwezinso, lesi sifo kuhlanganisa izitho eziningana futhi izinhlelo. The shaqa esemqoka yalolu zezifo ngobuchopho omzimba omuntu. Kukhona evelele kanye isikhumba lesion. Konke ukubonakaliswa emitholampilo ye isifo abahlangene indlela sokuthuthuka. Endaweni yokuqala kukhona izinqubo esiwohlozayo e isimiso sezinzwa esiyinhloko. Okungukuthi, ataxia cerebellar. Kule ngxenye izakhi akwenzeki (Purkinje Imicu yotshani namaseli luyimbudumbudu). Okunye iziyaluyalu abonakala ukubonakaliswa cutaneous - telangiectasia. Basuke enwetshiwe izitsha zazo ikakhulukazi abusisa ngaso ebusweni (umjovo sclera, izindlebe, ikhala). Ataxia telangiectasia cerebellum nanjengeqembu zaziwa ngokuthi syndrome uLouis Bar. Izingane ezizalwa nalesi sifo, bungabonakala eminyakeni yokuqala yokuphila njengoba anomaly wabonakaliswa kokukhubazeka emzimbeni okukhulu (ukulibaziseka kwamabanga, ukuma engazinzile, ukuba buthakathaka kwezicubu).

Ngaphezu kwalokho , i-pathogenesis zesifo lihlanganisa ukwehluleka wamasosha omzimba (T lymphocyte). Izingane ukuphathwa yilesi sifo, kukhona aplasia hypo- noma ephelele thymus. Ngenxa yalokhu amasosha omzimba cell aqashwe athuthukile enganamandla kakhulu futhi ehlulekile ukuvikela umzimba kusuka izinqubo ezithathelwanayo.

Izimpawu ataxia-telangiectasia

Kobukhulu isithombe emtholampilo kuncike ngezinga elithile hypoplasia cerebellar kanye indlala ekuphambukeni. Lokhu kunquma ukuthi ngeke sibonakalise Louis-Bar syndrome. Izimpawu zesifo:

1. ataxia Cerebellar. Lesi sifo kubonakala phambi kwezinye, ngokuvamile ngonyaka wokuqala wokuphila. Nje sele liphinyiselwe ekuqaleni ukuhamba ezizimele. Izingane nge ataxia cerebellar ngokuvamile abakwazi asukume ukuhambisa ngendlela evamile. Emacaleni angu-kahle le nedumbe Gait futhi eliqhaqhazelayo yezingalo nemilenze. Ngaphezu kwalokho, izimpawu zokungasebenzi kahle kwemizwa obonakaliswe buthakathaka kwezicubu, dysarthria obuhlukahlukene degrees (inkulumo egwinya) kanye strabismus.
2. Telangiectasia. ukubonakaliswa Cutaneous Louis-Bar syndrome kancane kuyingozi. ngokuvamile azibonakali abaneminyaka ephakathi kwengu-3 kuya ku-6. Telangiectasia - a capillary osuke usuvulekile, ezibizwa ngokuthi "spider emithanjeni". Ngaphezu kwakho konke bona abonakala ezindaweni ezivulekile yomzimba, ikakhulukazi ebusweni. imithambo yegazi osuke usuvulekile zivame atholakala amehlo, ikhala nezindlebe, futhi flexor evele of izandla nezinyawo.
3. Propensity izifo kalula. Ngenxa ezinzima immunodeficiency umzimba akakwazi ukubhekana amanxusa eziyingozi eyabo. Ngenxa yalokho, ingane ngokuvamile ukuthuthukisa ezifweni ezihlukahlukene. Ngokuvamile kuba isifo esingelapheki the ipheshana zokuphefumula - pharyngitis, laryngitis, namathansela, inyumoniya.
4. izinqubo Neoplastic. Ngenxa hypoplasia thymic, phakathi nezinqubo ezithathelwanayo, umzimba iba ukungenwa umdlavuza. Ngokuvamile kuba isimila ka hematopoietic futhi lymphoid. Uma lesi sifo Louis-Bar e ingane ukuxilongwa elivumelekile, bese-ke akuvunyelwe nhlobo ukuba ionizing ukwelashwa ngemisebe umdlavuza.

Ukuxilongwa ataxia-telangiectasia

Ukuxilongwa sifo Louis Bara ngokuvamile akayinekezi sobunzima obukhulu, njengoba izimpawu zaso likubeka ngokucacile. Usola sifo kungaba iminyaka yokuqala yokuphila isithombe emtholampilo. izimpawu zokungasebenzi kahle kwemizwa (cerebellar ataxia, imisipha ebuthaka, ukuntula eliqhaqhazelayo futhi strabismus) kanye telangiectasia ziyinkomba ekuxilongeni lokhu egunjini lokuhlolwa kwezifo.

Uma usola a syndrome Louis-Bar kuyadingeka ukuze uxhumane Ochwepheshe eziningana. Phakathi kwabo: isazi sezinzwa, wesikhumba, oncologist, ezithathelwanayo isifo onguchwepheshe, endocrinology futhi isazi sezakhi zofuzo. Ngaphezu luhlolo yomtholampilo, wenziwa laboratory kanye ukuhlola wezinsimbi. Feza immunoassays, lapho ukuncishiswa wawubona noma ukungabi Imininingwane yezinto amasosha omzimba yeselula (T lymphocyte ukwehla, immunoglobulin A, G). I Kla waphawula leukocytosis kwadlanga erythrocyte sedimentation izinga, okhombisa ukuvuvukala emzimbeni. Libuye ukuhlola kubalulekile nowezinsimbi. X-reyi yesifuba wenziwa (ukunciphisa ngobukhulu thymus), i-MRI ubuchopho (izinqubo esiwohlozayo). Okwamanje, ngaphezu ukuhlolwa okuvamile, eyenziwa zofuzo (aphenya kokunikezwa kwe-chromosome 11), ngesisekelo okuyinto wafaka i ukusazi ngokunembile isifo esikuphethe.

Ukwelashwa yalesi sifo uLouis Bar

Ngeshwa, ukuphathwa etiological ka chromosomal kwezinso okwamanje athuthukile. Ngakho-ke, kulesi zokugula wenziwa yokwelapha lingaze kuphela futhi nokuqapha njalo iziguli. Ukwelapha wokuqala kuhloswe ngcono ukusebenza izivikeli mzimba. Lokhu kuyadingeka ukuze angatholi amagciwane futhi isimila izinqubo. Ngenxa yale njongo, ukusetshenziswa gamma-globulin ukulungiselela, futhi "T-activin". With ukuthuthukiswa Izifo ukuvuvukala ukusebenzisa ejenti elwa namagciwane kanye elwa namagciwane. Ngeshwa, ataxia cerebellar syndrome ayikwazi iphathwa ngokugcwele. Ukumisa izinqubo esiwohlozayo esetshenziswa nootropics. Ngo umdlavuza nokwelashwa ngamakhemikhali, futhi aye ayisebenzisa kaningi ukuhlinzwa.

Onalesi sifo udilikajele e-syndrome uLouis Bar

Naphezu kobukhulu isifo, kungenzeka ukunweba futhi lula impilo yengane ne ukuxilongwa ngesikhathi esifanele kanye nokwelashwa. Ngenxa yale njongo, nokwelapha okuthuthukisa lezi iziguli. Ngeshwa, anomaly Louis-Bar bathuthuke ngokushesha. Kulokhu, isilinganiso sobude bokuphila kuyinto iminyaka 2-3. Ngezinye izikhathi lesi sifo ngeke iminyaka eminingi. Ngesikhathi esifanayo bempilo luyanda kakhulu. Ubuningi beminyaka iziguli ubhekwa iminyaka 20-30. Ezimweni eziningi izimbangela zokufa kukhona izinqubo ezithathelwanayo kanye neoplastic, ngezinye izikhathi - iziyaluyalu zezinzwa.

Prevention syndrome Louis Bar

Ukuze ugweme kakhulu ekuthuthukeni kwale zokugula, kubalulekile ukuba lenze ucwaningo zofuzo umbungu namanje ku izigaba zokuqala zokukhulelwa. Kubalulekile futhi ukwazi umlando hhayi kuphela abazali wengane, kodwa futhi amanye amalungu omndeni. Phakathi nenkathi yokukhulelwa, okudingeka uzigweme emiphumeleni elimazayo ukucindezeleka kwemvelo nangokomzwelo.

Uma ingane nge anomaly enjalo okuzelwe, kubalulekile ukwenza konke kadokotela, ukuze kuvikeleke ingane ngokumelene izinto ezithwala izifo. With amasosha omzimba ebuthaka nokuthuthukiswa ngokomzimba kahle kubalulekile ukuxilonga syndrome Louis Bar. Izithombe kwezingane nalesi sifo bungabonakala izincwadi ekhethekile wezokwelapha.