Louis-Pae syndrome: tohu, Te tātaritanga me te rongoā

Ka rite ki matau koutou, i reira e maha abnormalities pūira rerekē, e kua whakatakotoria ara i roto i te utero. Ko te ako o enei pathologies wāhi e i roto i iranga. I roto i nga tau tata nei, kei te kaha whakawhanakehia tenei rohe o te rongoā, na i roto i te heke mai tata ka taua mate māmā ki te tātari me te hamani. Aua'e, He tino onge enei kōhikohiko. Kei te whai pānga te reira ki ake tātaritanga fetal. Ko tētahi o nga pathologies e pā ana ki abnormalities pūira, ko Louis-Pae syndrome. I roto i te nuinga o te wā, kitea te mate i roto i te tuatahi o nga tau o te ora o te tamaiti, engari ētahi wā hanga reira ano ua anake e 6-7 tau.

Louis-Pae syndrome - he aha te mea tenei māuiuitanga?

pā ana tēnei māuiuitanga e ki te hē ira congenital. I roto i te nuinga o te wā, kua riro te reira. Ataxia telangiectasia (Louis-Pae syndrome) he tino onge. He tohu motuhake e tukua te tātaritanga o tenei māuiuitanga te mate. Ki te hanga i tētahi tātaritanga tika, e hiahia ana koe te runanga o rata, ko wai e whakau turaki i te aroaro o te Pākatokato e wehingia ana ranei.

History me te mātai tahumaero o te mate

Ko te tino onge tenei syndrome. Ko tōna auau Ko e pā ana ki te 1 take ia 40,000 taupori. Hoki te wā tuatahi i kitea te mate i French wahine pūtaiao Louis-Pae. Syndromes āhuatanga o te māuiuitanga, kua ngā reira i roto i te kotahi nosology. tupu tenei i roto i te tau 1941. i kitea muri i te torutoru atu take huri noa te ao. Mai te mea te tino onge tenei Pākatokato, e kore e taea ki te mea ki pū aha te etiology o te syndrome Bar Louis. whakapono te reira e kore te mea ti'aturi i runga i ngā takiwā makariri te ahua o te mate. Na reira, ka taea e te syndrome puta i roto i ngā rohe katoa. I tua atu, i reira he kahore taunakitanga e e hono ki te pā o patunga manawanui. Ko, puta Louis-Pae syndrome ki rite auau i roto i rua tamaroa e tamahine he rite.

Ko te take o te whanaketanga mate

whakatakotoria ana tēnei whanaketanga Pākatokato te i roto i te huatū tuatahi o te hapūtanga. tuku te mate e anake i te tauatanga. E pā ana te syndrome ki te autosomal te whakararuraru, ira ngoikore. tikanga o tēnei e ka riro te tamaiti te mate tika, ki te whai ngā mātua e rua te takahi o pūira. Ki te puta he Pākatokato i roto i tetahi o ratou (ahakoa o ira), te tupono o takanga o te syndrome Louis-Pae i te koati, ko te 50%. Ko te take matua mō te irakētanga - ko te takahi o te ringa roa o te pūira 11. Ko te āhuatanga tangohia e arahi ki te taua whakatikatika ira he unknown. Ko tāutu he maha o ngā pānga kino, pa ana te whanaketanga embryonic. Ko te matua tenei āhuatanga taiao (te rongo ki matū paitini). i roto i te huatū tuatahi o te hapūtanga hoki he ahotea rawa mōrearea.

syndrome Louis-Pae: pathogenesis o te mate

Ka rite ki ki te nuinga abnormalities pūira congenital, te syndrome ngā maha ngā whēkau me ngā pūnaha. Ko te pukupuku, matua o tenei mate ko te roro me te pūnaha ārai mate o te tangata. He he ano hoki te korerotia me te lesion kiri. E whai pānga ana katoa o nga faaiteraa haumanu o te mate ki te huarahi o tona whanaketanga. I roto i te wahi tuatahi i reira he tukanga degenerative i roto i te pūnaha io pokapū. Ara, ataxia cerebellar. I roto i tenei wahi o ngā huānga e kore e whakawhanake (Purkinje muka me ngā pūtau potakataka). Ētahi atu disorders he faaiteraa waihakihaki kitea - telangiectasia. e oko e e ngā korerotia i runga i te mata (werohanga mā karu, taringa, ihu) atu ratou. E mohiotia Ataxia telangiectasia roro tuarongo, me te ngātahi rite te syndrome o Bar Louis. Tamariki whanau ki te mate, e taea te tāutuhia i roto i te tau tuatahi o te ora hei Pākatokato whakakitea hauātanga tinana kino (roa whanaketanga, tūranga iu, uaua ngoikore).

I tua atu , i te pathogenesis o te mate ngā te kore o te pūnaha ārai mate (T lymphocytes). Tamariki e mate ana i tenei mate, i reira he aplasia hypo- oti ranei o te thymus. Ka rite ki te hua o tenei mate pūtau-takawaenga whakawhanakehia rawa ngoikore, me te he taea ki te tiaki i te tinana i ngā tukanga hopuhopu.

Ko te tohu o te ataxia-telangiectasia

Ko te pakeke o te pikitia haumanu tei runga i te tohu o te hypoplasia cerebellar me repe witi. Ka tātari tēnei i pehea e faaite mai i te reira Louis-Pae syndrome. Tohu o te mate:

1. ataxia Cerebellar. faaite tenei syndrome iho i mua i te tahi atu, te tikanga i roto i te tuatahi o nga tau o te ora. tau ana korerotia e ia i te timatanga o te haere motuhake. Tamariki ki te ataxia cerebellar kore maha e taea tu ake, me te neke tikanga. I roto i te wā atu pai te angatonu o kiwi e, me te faaati o nga wahi. I tua atu, faaite tohu neurological i uaua ngoikore, dysarthria taumata (reo slurred) me te strabismus.
2. Telangiectasia. He iti kino faaiteraa waihakihaki Louis-Pae syndrome. ratou te tikanga faaite mai ratou i waenganui o nga tau o te 3 ki te 6 tau. Telangiectasia - he tōiti dilated, e te hunga kua huaina "uaua pūngāwerewere". Te nuinga o te katoa e kitea i roto i nga wāhi tuwhera o te tinana ratou, ngā i runga i te mata. Kei te maha oko toto Dilated kitea i roto i te kanohi, ihu me taringa, me papa flexor o nga ringa, me te waewae.
3. Keno ki mate. Nā ki te tinana ārai nui e kore e taea e akakoromaki i te āpiha kino o ratou ake. Ka rite ki te hua, maha whakawhanake te tamaiti ngā mate. E mea pinepine te mea he mate ma'i o te wahi romahā - pharyngitis, laryngitis, tonsillitis, kakā.
4. tukanga Neoplastic. Nā hypoplasia thymic, i roto i ngā tukanga hopuhopu, riro te tinana i haria ki te mate pukupuku. Nuinga o ngā wā ko reira he puku o hematopoietic me kiko lymphoid. Ki te te syndrome Louis-Pae i roto i te tamaiti ko te tātaritanga whaimana, ka te tino i te reira riria ki ionizing radiation maimoatanga o te mate pukupuku.

Tātaritanga o te ataxia-telangiectasia

Tātaritanga o te syndrome Louis Korimi te tikanga e kore e whakarato i te fifi nui, pera he tino motuhake ona tohu. Whakapae i te mate e taea e te tau tuatahi o te ora i runga i te pikitia haumanu. tohu Neurological (cerebellar ataxia, ngoikore uaua, faaati me te strabismus) tahi ki te telangiectasia e he tohu mō te Tātaritia tenei māuiuitanga.

Ki te whakapae koe te syndrome he tika Louis-Pae ki kōrero e rave rahi tohunga. I roto ia ratou: he toketā neave, dermatologist, matepukupuku rānei, mātanga mate hopuhopu, tafe'anga me geneticist. I tua atu ki te whakamātautau haumanu, i mahi taiwhanga me tātaritanga mauhaa. Kawe atu immunoassays, i roto i nei te whakaiti i tohua ngaro katoa o nga mea timatanga o te wātea i te mate pūtau (T lymphocyte heke, immunoglobulin A, G) ranei. kitea te KLA leukocytosis ka whakatere ngeniwhero tere parataiao, e tohu mumura i roto i te tinana. Ko reira ano hoki tātaritanga nui, me te mauhaa. whakamana aaka X-ray e (whakaiti i roto i te rahi thymus), MRI roro (tukanga degenerative). I tēnei wā, i roto i te tua ki te whakamātautau paerewa, kawea atu ira (tirotiro i te takahi o te pūira 11), i runga i te pūtake o i hoatu he tātaritanga tika.

Treatment o te syndrome o Bar Louis

Kia aroha mai, e kore e whakawhanakehia te maimoatanga etiological o abnormalities pūira tēnei wā. Na reira, i roto i tenei māuiuitanga whakamana te anake therapy symptomatic me aroturuki tamau o tūroro. hāngai ana te maimoatanga tuatahi te i te whakapai ake i te mahi o te pūnaha ārai mate. Ko te tika tenei ki te karo i mate, me ngā tukanga puku. Hoki tenei whakaaro, te whakamahi o te faaineineraa kama-globulin, me "T-activin". Ki te whanaketanga o mate inflammatory tono āpiha antibacterial me patu huaketo. Kia aroha mai, e taea e kore te tino tukinotia ataxia cerebellar syndrome. Hei aukati i te tukanga degenerative whakamahia nootropics. I roto i te hahau mate pukupuku, a kua haere ki te pokanga.

Ko te waitohunga mō te ora i roto i te syndrome o Bar Louis

Ahakoa te pakeke o te mate, he mea ka taea ki te whakawhānui me te whakahaere i te ora o te tamaiti ki te tātaritanga wā, me te maimoatanga. Hoki tenei whakaaro, he therapy whànau, mo enei tūroro. Kia aroha mai, ka taea e te Pākatokato Louis-Pae fakalakalaka hohoro. I roto i tenei take, te tümanako ora ko te 2-3 tau. I te tahi taime e kore e te mate whakawhanake hoki te maha o nga tau. I te wa ano kei te tino nui haere te ora ngā. whakaaro tau mōrahi o tūroro te ki kia 20-30 tau. I roto i te nuinga o te wā ko te take o te mate tukanga hopuhopu, me te neoplastic, ētahi wā - disorders neurological.

Prevention syndrome Pae Louis

Ki te karo i te whanaketanga o tenei māuiuitanga, ko reira e tika ana ki te kawe i roto i whakamātautau ira o te kukune ko tonu i roto i te tīmatanga o te hapūtanga. He mea nui hoki ki te mohio ki te hītori o te mau metua e kore anake o te tamaiti, engari ano hoki te tahi atu melo o te utuafare. I roto i te hapū, e hiahia ana koe ki te karo i te pānga kino o te ahotea taiao, me te aronganui.

Ki te whanau tetahi tamaiti ki te Pākatokato pera te, ko reira nui ki te mahi i whakahaunga katoa, ki te tiaki i te tamaiti ki āpiha hopuhopu. Ki te wātea i te mate ngoikore, me te whanaketanga tinana waimaero ko reira e tika ana ki te tātari i te syndrome Bar Louis. Ka taea te kite whakaahua o ngā tamariki ki te mate i roto i te tuhinga motuhake hauora.