Louis-Bar syndrome: Zizindikiro, Matendawa ndi Chithandizo

Monga mukudziwa, pali zosiyanasiyana chromosomal kuvutika, amene anaika ngakhale utero. Kuphunzira pathologies izi zikugwira chibadwa. M'zaka zaposachedwapa, mbali iyi mankhwala akugwiritsa mwachangu otukuka, choncho posachedwapa matenda simudzavutika oterewa ndi kuchitira. Mwamwayi, anomalies izi n'zochepa kwambiri. Iwo amagwirizana ndi diagnostics bwino yoopsa. Mmodzi wa pathologies kugwirizana ndi kuvutika chromosomal, ndi Louis-Bar syndrome. Nthawi zambiri, nthendayo wapezeka mu chaka choyamba cha moyo khanda, koma nthawi zina izo zimandipangitsa lokha anamva kokha ndi zaka 6-7.

Louis-Bar syndrome - kodi kudwala izi?

kudwala Izi zokhudzana ndi olumala chibadwa. Nthawi zambiri, izo tinatengera. Ataxia telangiectasia (Louis-Bar syndrome) ali osowa kwambiri. Matendawa ali ndi zizindikiro zapadera zimene kulola matenda a kudwala izi. Kuti apange matenda zolondola, inu muyenera bungwe la madokotala, amene adzatsimikizira kapena kutsutsa pamaso pa anomaly zoopsa.

History ndi EPIDEMIOLOGY matenda

syndrome Ichi ndi chosowa kwambiri. pafupipafupi ake ali pafupi 1 mlandu pa 40,000 alionse. Kwa nthawi yoyamba matendawa anatulukira ndi French akazi asayansi Louis-Bar. Syndromes khalidwe la kudwala, izo amaphatikiza nosology wina. Izi zinachitika mu 1941. Pambuyo angapo milandu anapezeka padziko lonse. Popeza anomaly uyu ali osowa kwambiri, sikutheka kuti mwatsatanetsatane zimene etiology wa syndrome Louis Bar. Iwo anakhulupirira kuti maonekedwe a matenda sadalira nyengo. Choncho, matenda angayambe m'madera onse. Komanso, palibe umboni umene ungaphatikize ndi zochitika za mbewu mtima. Ndiko kuti, syndrome Louis-Bar amapezeka ndi pafupipafupi ofanana anyamatawa ndi atsikana omwe.

Zimayambitsa chitukuko matenda

Zimenezi anomaly yaikidwa mu trimester mimba. matenda imafalikira yekha ndi motsatizana. Matendawa akutanthauza autosomal recessive matenda chibadwa. Izi zikutanthauza kuti mwana adzalandira matenda molondola, ngati makolo anu onse ali kuphwanya DNA. Ngati anomaly amapezeka mmodzi wa iwo (kaya jenda), mpata zosayembekezereka wa syndrome Louis-Bar pa mwana ndi 50%. Chifukwa chachikulu kusintha - ndi kuphwanya mkono yaitali khromozomu 11. Mfundo yeniyeni kuti atsogolere chotero rearrangement kumtundu osadziwika. Koma limatchula nambala ya mavuto, zokhudza chitukuko embryonic. Izi makamaka zinthu zachilengedwe (kukhudzana ndi zinthu zakupha). Komanso mu trimester mimba ndi nkhawa oopsa kwambiri.

syndrome Louis-Bar: pathogenesis matendawa

Mofanana ndi kuvutika kwambiri kobadwa nako chromosomal, syndrome kumaphatikizapo ziwalo zambiri ndipo kachitidwe. The mipherezero chachikulu cha matenda ndi ubongo ndi chitetezo anthu. Palinso kutchulidwa ndi khungu chotupa. Zonse mwa maonekedwe matenda a matenda zokhudza limagwirira wa chitukuko. Mu malo oyamba pali njira osachiritsika mu chapakati mantha dongosolo. Ndicho, cerebellar ataxia. Mu gawo ili la zinthu woterewu (Purkinje ulusi ndi maselo granular). matenda ena akalipo cutaneous mawonetseredwe - telangiectasia. Iwo amafikira ziwiya zimene makamaka kutchulidwa pa nkhope (jekeseni sclera, makutu, mphuno). Ataxia telangiectasia cerebellum magulu amatchedwa matenda a Louis Bar. Ana obadwa ndi matenda, tingaone mu zaka zoyambirira za moyo monga anomaly akuwonetseredwa kwadzaoneni m'thupi olumala (kuchedwa kakulidwe, wosakhazikika kaimidwe, kufooka minofu).

Komanso , ndi pathogenesis matenda chikuphatikizapo kulephera kwa chitetezo cha m'thupi (T lymphocytes). Ana amene akudwala matendawa, pali hypo- kapena wathunthu aplasia wa thymus lapansi. Chifukwa cha chitetezo chokwanira izi selo nkhoswe anayamba ofooka kwambiri ndipo analephera kuteteza thupi ku njira opatsirana.

Zizindikiro za ataxia-telangiectasia

Popereka chithunzi matenda zimadalira mlingo wa hypoplasia cerebellar ndi foloko England. Kudziwa mmene adzaonetsera syndrome Louis-Bar. Zizindikiro za matendawa:

1. Cerebellar ataxia. syndrome kumaonekera pamaso pa ena, kawirikawiri mu chaka choyamba cha moyo. Iye adzakhala kutchulidwa pa chiyambi cha palokha kuyenda. Ana ndi ataxia cerebellar zambiri sangakhoze kuima ndi kusuntha bwinobwino. Milandu yabwino kwambiri unsteadiness wa gait ndi kugwedeza ya nthambi. Ndiponso, zizindikiro ubongo m'kukoma minofu kufooka, dysarthria amawasonyeza mosiyanasiyana (slurred kulankhula) ndi strabismus.
2. Telangiectasia. Cutaneous mawonetseredwe Louis-Bar syndrome sakhala oopsa. iwo zambiri zimapezeka zaka zapakati pa zaka 3 mpaka 6. Telangiectasia - ndi capillaries dilated, ndipo amatchedwa "kangaude mitsempha". Koposa zonse zimaonekera m'madera lotseguka kwa thupi, makamaka pa nkhope. Dilated Mitsempha amapezeka maso, mphuno ndi makutu, ndi pamalo flexor manja ndi mapazi.
3. Propensity matenda. Chifukwa ovuta immunodeficiency thupi sangathe kulimbana ndi wothandizila zoipa zawo. Chifukwa, mwanayo pafupipafupi kukhala matenda osiyanasiyana. Nthawi zambiri ndi matenda aakulu pa mundawo kupuma - pharyngitis, laryngitis, zilonda zapakhosi, chibayo.
4. Neoplastic njira. Chifukwa hypoplasia thymic, mwa njira opatsirana, thupi limakhala atengeke khansa. Nthawi zambiri ndi chotupa cha hematopoietic ndi minofu lymphoid. Ngati matenda Louis-Bar mwana ndi matenda chomveka, ndiye kutiletsa ionizing cheza mankhwala a khansa.

Matenda a ataxia-telangiectasia

Matenda a vuto Louis Bara zambiri sasamalira ndi vuto lalikulu, monga zizindikiro zake ndi achindunji kwambiri. Akuganiza matenda angakhale zaka zoyambirira za moyo pa chithunzi matenda. Zizindikiro ubongo (cerebellar ataxia, kufooka akulu, kugwedeza ndi strabismus) pamodzi ndi telangiectasia ali ndi chidziwitso cha Kupeza Vuto kudwala izi.

Ngati mukukayikira syndrome ndi Louis-Bar pamafunika kukaonana akatswiri angapo. Pakati pawo ndi matenda okhudza ubongo, dermatologist, oncologist, nthenda katswiri, m'thupi yemwenso ndi zachibadwa. Kuwonjezera Kupenda matenda, anachita zasayansi ndi diagnostics malangizo. Agwire immunoassays, imene kuchepetsa Amowabu kapena kusapezeka okwana miyambo ya chitetezo chokwanira ma (T lymphocyte kuchepa, immunoglobulin A, G). The KLA anati leukocytosis ndipo inapita erythrocyte sedimentation mlingo, zimene zikusonyeza kutupa mu thupi. Ndi diagnostics zofunika zoimbidwa. Pachifuwa X-ray imagwiridwa (kuchepetsa kukula thymus), Kujambula ubongo (njira osachiritsika). Panopa, kuwonjezera mayesero muyezo ikuchitika majini (kufufuza kuphwanya khromozomu 11), tsiku limene kuyika matenda zolondola.

Chithandizo cha matenda a Louis Bar

Mwatsoka, chithandizo etiological cha kuvutika chromosomal si panopa otukuka. Choncho, kudwala imeneyi imagwiridwa yekha symptomatic mankhwala ndi kuwunika zonse odwala. Mankhwala oyamba umalimbana patsogolo kugwira ntchito kwa chitetezo cha m'thupi. Izi ndi zofunika kupewa matenda ndi njira chotupa. Chifukwa chaichi, ntchito yokonza Popanga madzi a gamma-globulin, ndi "T-activin". Ndi chitukuko cha matenda yotupa ntchito wothandizila antibacterial ndi mavairasi oyambitsa. Mwatsoka, cerebellar ataxia syndrome sangathe mutachira mokwanira. Kusiya njira osachiritsika ntchito nootropics. Khansa mankhwala amphamvu, ndipo ayamba opaleshoni.

Kuti madokotala ananena zawo ndi moyo syndrome wa Louis Bar

Ngakhale kukula kwa matenda, n'zotheka kutalikitsa ndi atsogolere moyo wa mwanayo ndi matenda yake ndi mankhwala. Chifukwa chaichi, ndi palliative mankhwala kwa odwala awa. Mwatsoka, anomaly Louis-Bar angathe kukwaniritsa mwamsanga. Pankhaniyi, moyo amayembekezeka ndi zaka 2-3. Nthawi zina matenda woterewu kwa zaka zingapo. Pa nthawi yomweyo moyo amayembekezeka ali kwambiri. Zolemba malire zaka odwala akuti ndi zaka 20-30. Nthawi zambiri zimayambitsa imfa opatsirana ndi neoplastic njira, nthawizina - matenda a ubongo.

Kuteteza matenda Louis Bar

Kupewa chitukuko cha kudwala izi, ndikofunikira kugwira Kupenda majini a mwana wosabadwayo akali magawo oyambirira mimba. M'pofunikanso kudziwa mbiri ya makolo osati mwana, komanso achibale ake ena. Woyembekezera, muyenera kupewa mavuto a maganizo zachilengedwe ndi maganizo.

Ngati mwana zoterezi anomaly wabadwa, n'kofunika kuchita mankhwala onse, kuteteza mwana ndi wothandizila opatsirana. Ndi chitetezo chokwanira ndi ofooka ndi mkhutu kukula m'pofunika oterewa vuto Louis Bar. Photos wa ana ndi matenda Tingaone mu mabuku wapadera mankhwala.