Amaurosis congenital Leber: take, tohu me ngā āhuatanga maimoatanga

Diseases o te taputapu ataata e tukua tonu ki te manawanui he rota o te raruraru me te raruraru. Kanohi - Ko te okana rongo matua. Ki reira, ka taea e te iwi kite i te ao, me te tino e arata'i ai ratou i roto i te wāhi. whakaaro te māuiuitanga tino whakamataku te he mate o te whakakitenga pokapū. I roto i te mahi hauora, kua kitea taua mea i huaina amaurosis o Leber. Treatment, tohu, ai mate - he tika etahi o nga take ki te kia kōrero i roto i te tuhinga o tenei ra enei.

Whakaahuatanga o te mate, me ona rerekē

Amaurosis Ko te wae māuiuitanga ocular i roto i nei i reira he matapo wāhanga katoa ranei. e kore te ana tēnei huru e pā ana ki te tirohanga tika o te kino okana. Ko te kotahi mahi. He mate meinga e te rangirua o nga raru o te taputapu ataata. Ko rite tenei te take, no te, i roto i te whakamātautau ophthalmic, e kore e te tākuta kite i tetahi ine nui. I roto i tenei take, amuamu te manawanui o te waimaerotanga ataata tamau.

Ko Amaurosis o e rua ngā momo: rangitahi (rangitahi) me congenital. āhuatanga te take tuatahi e te mate rangitahi o kite. Ko te whanaketanga o te mate, te nuinga o meinga e ischemia i te takotoranga wai o te uaua kakī. Ki te awhina o rongoā kite-whaiaro ranei faaho'ihia mai te hohoro. Ki te kauneke te papamuri o tohu matapo rangitahi o ischemia, whakamana pokanga te. Ko te maha tenei ahua o te mahi ki te ārai i patunga i roto i te tūroro.

Ko o ngā moni ki nga rata, me pūtaiao amaurosis congenital Leber. Na reira, he mea tika ki te whakaaro tenei māuiuitanga wehe.

Āhuatanga Leber amaurosis congenital

puka tuku iho o te mate, tākuta hono ki ngā ira mate rhodopsin production. Ko reira haepapa mo te tuku o ngā mōhiohio me te paihere karere i roto i te roro. Ki te rhodopsin nui, ko pai te etine liliu te marama ki ngātere o nei whakapakoko ataata e hanga e muri. E ai ki te rangahau tata i runga i te kaupapa, i roto i te tua ki te rhodopsin tukanga pathological toro hoki ki ngā wāhi atu - rakau me te mahuetanga.

whakahuatia Leber amaurosis congenital wā tuatahi i roto i te tau 1867. Te pūtaiao, ka karanga te mate tona ingoa ko muri, tāutuhia ona faaiteraa matua. Ko te rawa tenei matapo, nystagmus, me te ahua o te wahi tau i runga i te fundus. He onge āhua (3 take ia 100 mano. Population) te māuiuitanga. Reira rite pānga e rua tangata, me nga kotiro.

Ko te take matua

He aha i reira he he amaurosis congenital Leber? He unknown tonu nga take o te mate. E rave rahi mau taote mea e pā ana ki reira e tika ana ki te kore o mārama ngā āhuatanga o te pū te ngarahu epithelium (rhodopsin) ki photoreceptors. Kei te meinga te reira e abnormalities o rauemi ira. Māuiuitanga he autosomal aratau ngoikore o te tuku. Ko reira ki te kia wehi anake, ki te he reira i roto i te ira mutated mātua e rua DNA.

Kei te korero tatou e pā ana ki te ira RPE-65 i roto i te pūira tuatahi. I runga i te pūtaiao i tenei ra, i reira e pā ana ki 80 ngā momo o ona irakētanga, e auroro he maha o ngā momo o abiotrophy tuaroa. Pūmua whakawaeheretia e tenei ira te kawenga mō te pākia o retinol i roto i te epithelium ngarahu. I roto i te aroaro o te koha ira whakaahuatia kore tukanga. Ka rite ki te hua, mutu te kōtuitui o rhodopsin i hua i roto i te ahua o tohu āhuatanga o te mate.

pikitia haumanu

kitea amaurosis congenital tupu i Leber o te i roto i te kōhungahunga. I roto i ngā tamariki ki tenei tātaritanga te tikanga kahore he reflexes ataata. He hauwarea ratou, a taime kino ratou. E tano ia tapao e kore he tino i te whanautanga matapo. I roto i te ora o te tamaiti kauneke ia, engari ofi ki te tino tika ana ki te whakaoti i mate o te kite. Heoi, i reira he okotahi.

amaurosis congenital Leber o āhuatanga e te tohu e whai ake nei:

1. kaupapa kanohi tumu.
2. huru ruarua nga ngā ākonga ki te marama.
3. Ko te tamaiti pakeke nui ki te arotahi tona mata i runga i ahanoa kotahi. Reira e kore whakaritea e wehewehe ngā tata.
4. Titiro tonu kotiti.
5. Kei te maha haere tahi māuiuitanga e keratoconus. Tenei koha i nei te taupoki io ketia te whirihoranga tikanga. riro te reira i tihi-āhua.

amaurosis congenital o Leber, i nuinga o te wā, he nahanaha i roto i te taiao, me te te e pā ana ki ētahi atu disorders. Taua tamariki i te pōhauhautanga. Ratou te tikanga i rawakore ranei kahore rongo. kīnaki te mate e te tahi atu abnormalities o nga whekau.

tikanga o te tātaritanga

Ko ētahi wā uaua ki wā whakapae amaurosis congenital Leber No te mea o te tau nui o faaiteraa mate o te ngā pūnaha. Take, tohu o tenei mate, me te nuinga o ngā mātua e kore e mohio. Na reira, e kore e rapu i tonu ratou i te tauturu i te taote.

whai wāhi Tātaritanga te tākuta. I te tahi taime e hiahia ana koe te awhina o tohunga waho :. toketā neave, Angiology, me ētahi atu Examination o haamata te manawanui ki te ako o tona hītori. I roto i tenei take, i te tākuta i roto i uiui kia ui haamaramaramaraa pātai. Hei tauira, ka puta mai nga tohu tuatahi o te mate, take o te amaurosis atu melo o te utuafare kua tāutuhia.

Ko reira whakahauanga ki te whai i te mātanga manawanui iti titiro te fundus o te kanohi, arowhai kite, pūpū ataata kounga. Ki te tika, kua whakahaua reira ki te MRI, me te whakarite he kōrero atu ki te geneticist.

Āhuatanga therapy

e kore te mea he pirautanga amaurosis congenital o Leber. E tika ana, kia rite ki te tahi mau ophthalmologists whakaaro te whakarite o te tiaki therapy. ngā te akoranga taua te whakamahi o complexes huaora, i werohia intraocular me taero vasodilator.

Tikanga, taua tūroro, i te tiaki i te taumata rawaka o tirohanga, whakatakoto te tākuta mōhiti. Heoi, ara ki to ratou awhina, ko reira tino uaua ki te wehewehe i waenganui i nga hoho'a mata o ētahi atu. Tamaiti tuutika hoatu i runga i te pūkete i te neuropathologist.

Mau metua, i roto i te tahuri, kia whakapūtā te tawhiti i ai taea ki te wehewehe i waenganui i te faaiteraa o te tahi atu mau taata te tamaiti, ko te. Hoki te hanganga tika o te pūnaha io pokapū he reira pai ki te kia i roto i te awhe tohua spacers. Ka tukua tenei huarahi te tamaiti ki te mohio ki kanohi, kīanga kanohi ki te tārua me te ki te whakapā i te muri o te whanaunga.

Ko te waitohunga mō ngā tūroro

Ki te rā, e kore e taea e ngā tākuta whakahere e rua ara ngā me whai hua ki te mahi ki te amaurosis. Heoi, huri noa te ao, tonu pūtaiao ki te whakahaere i mau tamataraa haumanu, me te ki te rapu rongoā ao. whakaatu ētahi o ēnei hua pai. Hei tauira, ka whakahaere i roto i te etine o ira RPE65 whakaatu tūroro kanohi he whakapai ake nui i roto i te whakakitenga.

Ko te waitohunga mate, he mea i roto i te nuinga o te wā kino. Tata 95% o tūroro ki te 10 tau i reira ko te mate tino o te kite.