Waardenburg syndrome: tohumate, ai, momo o te tupu

Ko tētahi o nga rōpū o mate he abnormalities congenital. I roto i te nuinga o te wā, e kore e taea ki te ārai ia ratou. Mō enei āhua mohio i muri i te whanautanga o te tamaiti. Kei te āhuatanga e faaiteraa rerekē mate ira. I roto i te nuinga o te wā, ko reira hē o nga whekau, me te kōhikohiko waho. Ko tētahi o nga abnormalities congenital ko Waardenburg syndrome. He nga āhuatanga āhuatanga e te wehe i te reira i te tahi atu hē ira. Ko ētahi o ēnei: rongo mate, kanohi tae rerekē, te ahua motuhake o tūroro. E titau te reira whakamātautau i te maha tohunga mo te tātaritanga o tenei mate.

He aha te mea Waardenburg syndrome?

e kore te mea he hē ira onge te mate. Ko te pā te mate toharite ko te 1 i roto i te 4,000 hou. whakapae Waardenburg syndrome te i te wawe tau, kia rite ki ana faaiteraa matua he papai, me te rerekē ahua tamaiti mate rongo. whakaahuatia te mate i roto i te rau tau rua tekau waenganui-. kitea e ahau i tenei ophthalmologist māuiuitanga ira i France Waardenburg. ako e ia he rōpū o ngā tamariki nei i kitea ngā āhuatanga pērā i kōtaha Kariki, tae kanapa kanohi (i roto i ētahi wā - rerekē) me te turi. I tua atu, he maha atu faaiteraa te syndrome, te huinga o e taea rerekē.

pāngia te mate i roto i ngā kōtiro me mau tamaroa. e kore te mea e pā ana ki te ira tangata me te matawaka te pā o te mate. faarahi koi te mōrea o te whakawhanake i tenei mate i roto i te aroaro o te pīari ira i roto i te tangata i te melo o te utuafare. I tēnei wā, i reira e rave rahi ngā momo o Waardenburg syndrome. Ko te pūtake o ngā rerekētanga ira hoatu whakarōpū.

Ko te take o te whanaketanga mate

Ko tētahi o nga mate congenital ngā tata kitea whakaaro Waardenburg syndrome. momo o te tupu o āhua pathological - autosomal tino. titau tenei he mōrea tiketike o te tuku o ira hapa i te mau metua ki ngā tamariki. Taea o te tuku i te mate, ko te 50%. E whakaaro ana te take mo te whanaketanga o te mate ki te hei irakētanga i roto i etahi ira. Ko tētahi o ratou ko te kawenga mō te hanganga o melanocytes - pūtau ngarahu. He kawenga mō te tae kanohi rerekē, me te getehromiyu (rerekē irises poke) irakētanga o tenei ira.

I ētahi wā e kore e te mate e pā ana ki te aamu utuafare. I roto i te wā, pērā, e kore e taea ki te mea, mo etahi take, tetahi whakatikatika ira. E mohiotia ana ratou ki te puta i roto i te utero. āhuatanga Risk ngā mate hopuhopu puta i roto i te hapūtanga. Hoki, kia te take pānga ahotea, haurangi tarukino, peu kino, me te pera i runga i. D.

Momo huru pathological

Wehewehe 4 momo o Waardenburg syndrome. Whakaröpütia ratou rite ki te momo me te āhua o te tupu o ngā ira mate. puta te momo tuatahi o te mate tino maha. Kei te āhuatanga i te reira e te irakētanga MITF me Pax3 ira, kei roto i te rua i te pūira. Momo o te tupu - autosomal tino. ira Pax3 kawenga mō te hanga o te take te tuhi, i roto i te tahuri whakahaere te hekenga o ngā pūtau tihi neural.

kitea te momo tuarua o Waardenburg syndrome te i roto i te 20-25% o te wā. Kei ira pathological i roto i te pūira 3 me 8. Ko te tuatahi - whai wāhi i roto i te hanganga o ngā pūtau ngarahu. Tuarua - kawenga mō te Tapa āhuatanga whakahohe patohanga o pūmua.

Ko te momo tuatoru o te mate ko te ira ngangau Pax3. Tenei ahua o te mate, ko te rerekē pakeke. I roto i te rerekē ki te momo tuatahi, e kore he ira mutated i hetero- me iraruarite. I ētahi wā tohua tenei te irakētanga tito.

āhuatanga te wha o nga momo o te mate e tupu ngoikore autosomal. Ko te mōrea o te mate tuku ko 25%. Kei te ira i roto i te pūira 13. Kei te whai wāhi te reira i roto i te hanganga o te pūmua endothelin-B.

Waardenburg syndrome: tohumate

Wehewehe paearu māuiuitanga nui, me te iti. kitea Tuatahi i roto i te nuinga o te wā. Ko ētahi o ēnei:

1. Heterochromia. Iwi ki te tae kanohi rerekē, e pā ana ki te 1% o te tapeke taupori ao. e kore Heterochromia e pā tonu ana ki syndromes pathological.
2. Ko te displacement o te kokonga roto kanohi. huaina te tītohunga taua te "telekant".
3. tae puru kanapa o te iris.
4. Ko te konei aroaro o te makawe hina.
5. Whanui piriti nasal.
6. Korerotia mate rongo i roto i ētahi wā - turi.
7. hanganga Iti o te wahi waenganui o te angaanga kanohi.
8. Ko te huinga o enei tohu ki te mate o Hirschsprung. āhuatanga tēnei māuiuitanga e waimaero rohe innervation intestinal.

Hoki paearu iti taea ngā te momo o tohumate. I roto contractures maihao ratou, te wāwāhi o te tīwae filosilivá, syndactyly, huringa kiri (aroaro o te tokomaha nui o kiore, leucoderma). E mea pinepine tohua hypoplasia o nga parirau o te ihu, me te whakaiti i te rae. Kei te tuku kanohi i te whirihoranga taua ki rite "kōtaha Kariki." Ētahi tūroro i hē pērā i "ngao ngatata" "ngutu ngatata" ranei.

Tātaritanga o kōhikohiko congenital

He onge te iwi ki te tae rerekē kanohi, engari e kore te mea tenei tohu tonu tohu o te mate ira. Ki te ngā i te tohu taua e ki rongo mate, me nga āhuatanga āhuatanga o te waho, ko pea te aroaro o Waardenburg syndrome. Hei whakaū i te tātaritanga, e rapu tohutohu tohunga. Kimi'anga whakahauanga tirohanga, ophthalmologist, dermatologist. He mea nui ki te kitea i roto i te aamu utuafare. Hei whakaū i te tātaritanga whakamana rangahau ira. I muri kua whakaturia reira, ki te reira Waardenburg syndrome. te taumata o te maramarama i roto i te tūroro - noa. Ko rerekē atu te mate i runga i te maha atu disorders tuku tenei.

Waardenburg Syndrome Treatment

Ka rite ki ki ētahi atu mate pūira etiotrop maimoatanga e kore e Waardenburg syndrome te tīari. Mahi o taote e hāngai ana ki te whakakore tohu mate. Whakahaere ki te ārai i te turi implantation o koko taputapu. Ki te ngā māuiuitanga ki te mate o Hirschsprung, e rapu wawaotanga hāparapara i runga i te whēkau. I roto i ētahi wā, whakahau i tua. I te tahi taime i reira he pokanga kirihou i runga i tona mata.

Prevention o syndrome ira

Ko te tūponotanga e whakawhanake Waardenburg syndrome i roto i te tamaiti ki te mate tetahi o nga matua he tiketike rawa. Na reira, i roto i hapūtanga whakamana whakamātau ira o te kukune. E mea titauhia i roto i te take o te aamu utuafare.

Ki te kahore i kitea tenei mate i roto i whanaunga, e kore e taea te ārai i te whanaketanga o te mate. Kua tohutohu hoki te ārai o ngā ira mate ki te karo i te ahotea me ētahi atu āhuatanga e whai pānga teratogenic. Ko te waitohunga mō te ora i roto i tenei huru ko pai.