Louis-Bar ciwo: Bayyanar cututtuka, bincike da kuma magance

Kamar yadda ka sani, akwai mutane da yawa daban-daban chromosomal munanan, wanda aka aza ko a utero. A nazarin wadannan pathologies tsunduma a itatuwa aure. A cikin 'yan shekaru, wannan yanki na magani da ake rayayye ci gaba, don haka a nan gaba, irin cututtuka za su kasance da sauki don gane asali da kuma yi wa. Abin farin, wadannan anomalies ne sosai rare. An hade tare da ingantattun fetal bincikowa. Daya daga cikin pathologies dangantawa da chromosomal munanan, shi ne Louis-Bar ciwo. A mafi yawan lokuta, cutar da aka gano a cikin shekarar farko na jariri ta rayuwa, amma wani lokacin shi ya sa kanta ji kawai ta 6-7 shekaru.

Louis-Bar ciwo - abin da yake wannan Pathology?

Wannan Pathology aka alaka da wani nakasar kayyade lahani. A mafi yawan lokuta, an gaji. Ataxia telangiectasia (Louis-Bar ciwo) ne musamman rare. A cuta yana da takamaiman cututtuka da cewa ba da damar da ganewar asali na wannan Pathology. Don yin wani cikakken ganewar asali, kana bukatar majalisa na likitoci, wanda zai tabbatar da ko shanyewa kasancewar wani mummunan anomaly.

Tarihi da epidemiology cuta

Wannan ciwo ne sosai rare. Its mita ne game da 1 hali da 40,000 yawan jama'a. A karo na farko da cutar da aka gano ta Faransa mata masana kimiyya Louis-Bar. Syndromes halayyar da Pathology, shi ne hade a daya nosology. Wannan ya faru a 1941. Bayan 'yan more lokuta da aka samu, a duniya. Tun da yake wannan anomaly ne sosai rare, ba shi yiwuwa a ce tare da daidaici abin da etiology na ciwo Louis Bar. Yana yi imani da cewa bayyanar cutar ba dogara a kan yanayin damina. Saboda haka, ciwo zai iya faruwa a duk yankuna. Bugu da kari, akwai wata shaida da cewa zai danganta da abin da ya faru na haƙuri benaye. Wannan shi ne, Louis-Bar ciwo ya auku tare da daidaita mita a duka biyu maza da mata daidai da juna.

A Sanadin cutar ci gaba

Wannan anomaly ci gaban da aka aza a na farko trimester ciki. Cutar da ake daukar kwayar cutar ta hanyar kawai jere. A ciwo na nufin wani autosomal recessive kwayoyin cuta. Wannan yana nufin cewa wani yaro zai gaji cuta daidai, idan iyaye biyu da take hakkin chromosomes. Idan wani anomaly faruwa a daya daga cikinsu (ko da jinsi), da damar da ya faru na ciwo Louis-Bar a yaro ne 50%. Babban dalilin maye gurbi - a take cikin dogon hannu na chromosome 11. A daidai dalilai da kai ga irin wannan kwayoyin rearrangement ne ba a sani ba. Amma gano wani yawan cutarwa effects, shafi tayi ci gaba. Wannan shi ne da farko muhalli dalilai (daukan hotuna zuwa guba abubuwa). Har ila yau, a cikin na farko trimester ciki ne sosai m danniya.

Louis-Bar ciwo: pathogenesis da cutar

Kamar yadda da mafi nakasar chromosomal munanan, da ciwo hada da dama gabobin da kuma tsarin. Babban hari da wannan cuta ne walwa da kuma rigakafi da tsarin. Akwai kuma pronounced kuma fata rauni. All na asibiti manifestations da cutar suna hade da ginshikai na cin gaban su. A farko wuri akwai degenerative matakai a tsakiya m tsarin. Wato, cerebellar ataxia. A wannan bangare na abubuwa ba ci gaba (Purkinje zaruruwa da granular Kwayoyin). Sauran cuta ne bayyane cutaneous bayyananen - telangiectasia. Suna mika kayayyakin da ake musamman furta a kan fuskarsa (allura sclera, kunnuwa, hanci). Ataxia telangiectasia cerebellum kuma tare suna da aka sani da ciwo na Louis Bar. Yara haife tare da cutar, za a iya gano a cikin shekara ta farko da rayuwa a matsayin anomaly bayyana tsanani nakasassu (na cin gaba jinkiri, m hali, tsoka rauni).

Bugu da kari , da pathogenesis da cutar hada da gazawar da tsarin na rigakafi (T lymphocytes). Yara da fama da wannan cuta, akwai hypo- ko cikakken aplasia na thymus. A sakamakon wannan cell-sulhu tsakani rigakafi ci gaba sosai rauni, kuma bã mai iya kare jiki daga cututtuka tafiyar matakai.

A bayyanar cututtuka na ataxia-telangiectasia

A tsanani daga cikin asibiti hoto dogara a kan mataki na cerebellar hypoplasia da cokali mai yatsu gland shine yake. Wannan kayyade yadda za hayyanãwa Louis-Bar ciwo. Bayyanar cututtuka da cutar:

1. Cerebellar ataxia. Wannan ciwo bayyana kanta kafin sauran, yawanci a cikin shekarar farko ta rayuwa. Ya wãyi furta a farkon m tafiya. Yara da cerebellar ataxia sau da yawa ba zai iya tashi da kuma matsawa kullum. A cikin mafi m lokuta da unsteadiness na Gait da tsãwa da wata gabar jiki. Bugu da ƙari kuma, neurological bayyanar cututtuka bayyana a tsoka rauni, dysarthria sãɓãwar launukansa digiri (slurred magana) , kuma strabismus.
2. Telangiectasia. Cutaneous bayyananen Louis-Bar ciwo ne kasa m. da suka saba bayyana kansu dake da shekaru 3 zuwa 6 shekaru. Telangiectasia - a dilated capillaries, wanda ake kira "gizogizo jijiyoyinmu". Mafi yawa daga duk suna a bayyane a cikin bude wurare na jiki, musamman a kan fuskarsa. Dilated jini sukan samu a cikin idanu, hanci da kunnuwa, da kuma flexor saman na hannuwansa da ƙafafunsa.
3. Propensity zuwa cututtuka. Saboda da tsananin immunodeficiency jiki ba zai iya jimre da cutarwa jamiái na nasu. A sakamakon haka, da yaro sau da yawa ci gaba daban-daban cututtuka. Sau da yawa shi ne a kullum cutar na numfashi fili - pharyngitis, laryngitis, tonsillitis, ciwon huhu.
4. Neoplastic tafiyar matakai. Saboda thymic hypoplasia, tsakanin dauke da kwayar cutar matakai, jiki ya zama mai saukin kamuwa da cutar daji. Mafi sau da yawa shi ne wani ciwon daji na hematopoietic da lymphoid nama. Idan ciwo Louis-Bar a wani yaro ne mai aiki ganewar asali, to, shi ne tsananin haramta wa ionizing radiation lura da ciwon daji.

Ganewar asali ataxia-telangiectasia

Ganewar asali na ciwo Louis Bara yawanci ba samar da wani wahala, kamar yadda ta bayyanar cututtuka masu quite musamman. Zargin da cutar na iya zama na farko shekaru na rayuwa a kan na asibiti hoto. Neurological cututtuka (cerebellar ataxia, murdede wani rauni, tsãwa da strabismus) tare da telangiectasia ne mai nuni ga diagnosing wannan Pathology.

Idan ka zargin wani ciwo Louis-Bar wajibi ne don tuntubar da dama da kwararru. Daga cikin su: wani neurologist, likitan fata, oncologist, cutar gwani, endocrinologist da jini. Bugu da kari zuwa asibiti jarrabawa, ya yi awon kuma instrumental bincikowa. Gudanar immunoassays, a cikin abin da alama rage ko total rashi na abubuwa na salon salula rigakafi (T lymphocyte ƙi, immunoglobulin A, G). A KLA lura leukocytosis da kuma kara erythrocyte sedimentation kudi, wanda ya nuna kumburi a jikinsa. Yana da muhimmanci kuma instrumental bincikowa. Chest X-ray aka yi (raguwa a thymus size), MRI kwakwalwa (degenerative matakai). A halin yanzu, a Bugu da kari ga misali gwaje-gwaje, da za'ayi a kayyade (binciken wani take hakkin da 11th chromosome), a kan tushen da sa wani cikakken ganewar asali.

Jiyya na ciwo na Louis Bar

Abin baƙin ciki, etiological magani daga chromosomal munanan halin yanzu ba a ci gaba. Saboda haka, a cikin wannan Pathology aka yi kawai symptomatic far da m saka idanu na marasa lafiya. A farko da magani ne da nufin inganta aiki na rigakafi da tsarin. Wannan wajibi ne don kauce wa kamuwa da cutar da kuma ciwon daji tafiyar matakai. A saboda wannan dalili, da yin amfani da gamma-globulin shiri, da kuma "T-activin". Tare da ci gaban kumburi cututtuka tambaya antibacterial da antiviral jamiái. Abin baƙin ciki, cerebellar ataxia ciwo ba za a iya cikakken bi da. Don dakatar da degenerative matakai amfani nootropics. A ciwon daji jiyyar cutar sankara, kuma sun koma ga tiyata.

A hangen nesa domin rayuwa a cikin ciwo na Louis Bar

Duk da tsananin cutar, yana yiwuwa ya mika da sauƙaƙe da yaro ta rayuwa tare da dace ganewar asali da kuma magani. A saboda wannan dalili, a palliative far ga wadannan marasa lafiya. Abin baƙin ciki, anomaly Louis-Bar iya ci gaba da sauri. A wannan yanayin, da rayuwa Hasashen ne 2-3 shekaru. Wani lokaci cutar ba ci gaba shekaru da dama. A daidai wannan lokaci tsawon rayuwar da aka ƙwarai karu. Matsakaicin shekaru da marasa lafiya da aka dauke su 20-30 shekaru. A mafi yawan lokuta cikin Sanadin mutuwa ne dauke da kwayar cutar da neoplastic matakai, wani lokacin - neurological cuta.

Rigakafin ciwo Louis Bar

Don kauce wa ci gaban wannan Pathology, shi wajibi ne a gudanar da kwayoyin jarrabawa da tayin ne har yanzu a farkon matakai na ciki. Yana da muhimmanci ka san tarihi ba kawai da iyaye na yaro, amma kuma wasu 'yan uwa. A lokacin daukar ciki, kana bukatar ka guji cutarwa sakamakon muhalli da kuma wani tunanin danniya.

Idan wani jariri da irin wannan anomaly aka haife, yana da muhimmanci a yi duk takardar sayen magani, don kare yaron da cututtuka jamiái. Tare da wani rauni rigakafi da kuma illa ta jiki ci gaba ya zama dole don gane asali da ciwo Louis Bar. Photos of yara da cutar za a iya gani a cikin na musamman likita wallafe-wallafe.