Louis-Bar syndrome: Iimpawu, diagnosis and Treatment

Njengoko usazi, kukho ezininzi ezingaqhelekanga chromosomal ezahlukeneyo, ezibekwe nkqu Esibelekweni. Isifundo kwezi ezimbi bekwi yemfuza. Kwiminyaka yakutshanje, ephuhliswa nje le ndawo yamayeza ngononophelo, ukuze kwixa elizayo izifo ezifana kuya kuba lula ukuba ukuxilonga nokunyanga. Ngethamsanqa, le mgaqweni zinqabile kakhulu. Inxulunyaniswa eziphuculweyo uxilongo Palsy. Enye ezimbi ezinxulumene makhwiniba chromosomal, yi Louis-Bar syndrome. Kwiimeko ezininzi, esi sifo kubonakele kunyaka wokuqala wobomi usana, kodwa ngamanye amaxesha wenza ngokwayo waziva kuphela iminyaka 6-7.

Louis-Bar syndrome - yintoni na le zokugula?

Le ngezifo linxulumene iziphene yemfuza naso. Kwiimeko ezininzi, kuba ilifa. Ataxia telangiectasia (Louis-Bar syndrome) kunqabile kakhulu. Isifo uneempawu ezithile evumela uxilongo yale ngezifo. Ukwenza ukuxilongwa, kufuneka ibhunga kumagqirha, ngubani oza kungqina okanye ukuphikisa ubukho anomaly ezoyikekayo.

Imbali kunye lwezifo izifo

Esi sifo kunqabile kakhulu. esasidla wayo malunga 1 ityala ngalinye labantu 40,000. Ngokuba lixesha lokuqala sifo yafunyanwa ngama French amabhinqa zizazinzulu Louis-Bar. Syndromes Lubalasele ngezifo, kubhaliwe ezidityanisiweyo nosology mnye. Oku kwenzeka ngo-1941. Kwiimeko Emva ezimbalwa ngaphezulu kwafunyanwa ehlabathini lonke. Ekubeni le anomaly kunqabile kakhulu, akunakwenzeka ukuba bathi kunye ngqo yintoni na umyalezo we onaso Louis Bar. Ekholelwa ukuba imbonakalo sifo akaxhomekekanga iimeko zemozulu. Ngoko ke, lo syndrome kwenzeka kuzo zonke iingingqi. Ukongeza, akukho bungqina bokuba uya kudibanisa kunye izehlo imigangatho nomonde. Oko kukuthi, Louis-Bar syndrome kwenzeka rhoqo obulinganayo kuzo zombini amakhwenkwe kunye namantombazana ngokufanayo.

Izinto ezibangela Uphuhliso izifo

Olu phuhliso anomaly iyafakwa ezintathu yokuqala yokukhulelwa. Esi sifo sisasazwa kuphela ngokulandelelana. Esi sifo ubhekisela autosomal sofuzo yokugula. Oku kuthetha ukuba umntwana uza ilifa isifo ngokuchanekileyo, ukuba bobabini abazali kophulwa zofuzo. Ukuba anomaly kwenzeka omnye (kungakhathaliseki ukuba yindoda), amathuba elivela kuzo syndrome Louis-Bar kwi itakane yi-50%. Esona sizathu siphambili sokuba wezakhi - kukwaphula ingalo elide chromosome 11. Imiba ngqo ezikhokelela ngokutsha yemfuza enjalo ayaziwa. Kodwa ichonge inani neziphumo eziyingozi, echaphazela uphuhliso osandul. Oku ikakhulu izinto yokusingqongileyo (ukudibana nezinto eziyityhefu). Kwakhona kwithuba leenyanga ezintathu yokuqala ye ukukhulelwa uxinezeleko luyingozi kakhulu.

Louis-Bar syndrome: Pathogenesis esi sifo

Njengazo zonke makhwiniba chromosomal enaso, syndrome kuquka amalungu eziliqela kunye neenkqubo. Iithagethi iphambili yalo nezifo ingqondo kunye kumajoni omzimba womntu. Kukho naye ngokukhawuleza kwaye sisilonda esidumbileyoesingaphakathi ulusu. Zonke ezi mpawu kwezonyango nezifo ezinxulumene indlela yophuhliso lwayo. Kwindawo yokuqala kukho iinkqubo sisiba mandundu kwinkqubo luvo. Oko kukuthi, Ataxia cerebellar. Kule nxalenye ye elements akuthethi ukuphuhlisa (Purkinje uYesti kunye neeseli granular). Okunye ukuphazamiseka ibonwa ezibonakalayo cutaneous - telangiectasia. Bona eyandisiweyo impahla ngokukodwa libizwe phezu kobuso (isitofu sclera, iindlebe, impumlo). Ataxia telangiectasia kwiCerebellum kwaye bebonke zaziwa ngokuba syndrome uLouis Bar. Abantwana abazelwe esi sifo, bungabonakala kule minyaka yokuqala yobomi njengento anomaly wabonisa abakhubazeke kakhulu emzimbeni (ukulibaziseka, ukuma ezingazinzanga, buthathaka kwezihlunu).

Ukongeza , i-Pathogenesis kwesi sifo iquka ukungaphumeleli amajoni omzimba (T lymphocyte). Abantwana abaphethwe kwesi sifo, kukho aplasia esihanahanisa- okanye epheleleyo thymus. Ngenxa yale okukwazi cell-mediated ziphuhliswe buthathaka kakhulu kwaye akakwazi ukukhusela umzimba kwiinkqubo esosulelayo.

Iimpawu Ataxia-telangiectasia

Ubungqongqo umfanekiso bezonyango kuxhomekeke iqondo hypoplasia cerebellar kunye ingaba yokwela. Oku kugqiba uya kuzibonakalisa indlela Louis-Bar syndrome. Iimpawu zesi sifo:

1. Ataxia Cerebellar. Esi sifo kubonakala phambi kwenye, ngokuqhelekileyo kunyaka wabo wokuqala bezelwe. Yena uba ngelo ekuqaleni ukuhamba elizimeleyo. Abantwana Ataxia cerebellar ngokufuthi abakwazi ukuma phezulu kwaye ushukume ngokuqhelekileyo. Xa iimeko zivuma ngakumbi ukuba nedumbe iqinelwa kunye nongcangcazelo le imilenze. Ngaphezu koko, iimpawu luvo ochazwa buthathaka kwezihlunu, dysarthria ezingafani (intetho slurred) kunye strabismus.
2. Telangiectasia. obubonakala Cutaneous Louis-Bar syndrome akanangozi. ludla azibonakali phakathi kweminyaka emi-3 ukuya ku-6. Telangiectasia - a emithanjeni inimba, ezo zibizwa ngokuba "spider emithanjeni". Inkoliso bonke zibonakala kwiindawo ezivulekileyo umzimba, ingakumbi ebusweni. imithambo yegazi inimba zifumaneka rhoqo emehlweni, impumlo neendlebe, kunye iindawo flexor kwezandla neenyawo.
3. Loluthando izifo. Ngenxa umzimba kakhulu immunodeficiency abakwazi ukumelana arhente eziyingozi eyeyabo. Ngenxa yoko, lo ngumntwana wehlelwa zizifo ezahlukahlukeneyo. Idla sisifo esingapheliyo ye phecana nokuphefumla - pharyngitis, laryngitis, tonsils, inyumoniya.
4. iinkqubo Neoplastic. Ngenxa hypoplasia thymic, phakathi iinkqubo esosulelayo, umzimba uba sengozini somhlaza. Kaninzi iba thumba of hematopoietic kunye inyama lymphoid. Ukuba syndrome Louis-Bar e umntwana uphethwe esebenzayo, ngoko ke esalelweyo ngqo ionizing unyango radiation lomhlaza.

Uxilongo lwe Ataxia-telangiectasia

Lokufunyaniswa syndrome Louis Bara ngokuqhelekileyo akuthethi ukunika ubunzima obukhulu, njengoko iimpawu zayo kakhulu ezithile. Usola sifo ube minyaka yokuqala yobomi kumfanekiso lwezonyango. Iimpawu luvo (cerebellar Ataxia, ubuthathaka dystrophy, lafa kunye strabismus) kunye telangiectasia zibonisa ukuba zokufumanis le ngezifo.

Ukuba urhanela syndrome Louis-Bar kuyimfuneko ukuya kwiingcali eziliqela. Phakathi kwabo: a luvo, wesikhumba, somdlavuza, ingcali izifo ezosulelayo, endocrinologist kunye isazinzulu. Ukongezelela kuxilonga, wenza zelabhoratri uxilongo zomculo. Qhuba immunoassays, apho ukwehla esiphawuliweyo okanye ukungabikho lilonke izinto sifo yeselula (T lymphocyte ukuhla, immunoglobulin A, G). I kla waphawula leukocytosis ndaza ndakhawuleza rate neentlenge erythrocyte, nto leyo ibonisa ukudumba emzimbeni. Kwakhona uxilongo ebalulekileyo zomculo. Chest X-ray luyenziwa (ukuncitshiswa ubukhulu thymus), MRI ingqondo (iinkqubo sisiba mandundu). Ngokwangoku, ukongeza iimvavanyo zomgangatho, lwenziwe yemfuza (uphando yaphula chromosome 11), ngokusekelwe wawabekayo ukuxilongwa.

Unyango lwe syndrome ka Louis Bar

Ngelishwa, ukuphathwa etiological of ezingaqhelekanga chromosomal ayimiselwanga okwangoku kuphuhliswa. Ngoko ke, kule ngezifo lwenziwa kuphela unyango kwangumqondiso kunye esweni rhoqo zezigulane. Unyango lokuqala ijolise ekuphuculeni ukusebenza kwamajoni omzimba. Oku kuyimfuneko ukuthintela usuleleko kunye neenkqubo nethumba. Ukulungiselela le njongo, ukusetyenziswa ukulungiselela gamma-globulin, yaye "T-activin". Ngophuhliso kwezifo ukudumba isicelo arhente antibacterial kunye antiviral. Ngelishwa, Ataxia cerebellar syndrome ayikwazi aphathwe ngokupheleleyo. Ukuyekisa iinkqubo sisiba mandundu kusetyenziswa nootropics. Xa umhlaza chemotherapy, kwaye asebenzise uqhaqho.

I-ALS lobomi syndrome ka Louis Bar

Nangona ubungqongqo sifo, kuyenzeka ukuba bandise kwaye lula ubomi bomntwana kunye kwesifo ngexesha kunye nonyango. Ukulungiselela le njongo, kwanonyango lokudambisa la izigulane. Ngelishwa, le anomaly Louis-Bar nga phambili ngokukhawuleza. Kulo mzekelo, iminyaka ubomi iminyaka 2-3. Ngamanye amaxesha sifo asungule iminyaka eliqela. Ngelo xesha linye lokuphila linyuke kakhulu. yobudala ekuhlaliseni izigulane kuthathwa ukuba ibe yiminyaka 20-30. Kwiimeko ezininzi ezibangela ukufa iinkqubo ezosulelayo kunye neoplastic, maxa wambi - zizigulo zemithambo.

Prevention syndrome Louis Bar

Ukunqanda uphuhliso le ngezifo, oko kuyimfuneko ukuze enze uviwo genetic umbungu nangoku xa nisaqala yokukhulelwa. Kwakhona kubalulekile ukwazi imbali kuphela abazali bomntwana, kodwa amanye amalungu entsapho. Ngexa lokukhulelwa, kufuneka uphephe neziphumo eziyingozi yoxinezeleko lokusingqongileyo nangokweemvakalelo.

Ukuba usana kunye anomaly onjalo ezelwe, kubalulekile ukwenza yonke imithi, ukukhusela umntwana kuso arhente ezosulelayo. Ekubeni okukwazi amandla kunye nophuhliso kakuhle emzimbeni kuyimfuneko ukuhlola syndrome Louis Bar. Amafoto babantwana sifo kunokubonwa kuncwadi zonyango ezizodwa.