Noonan syndrome: whakaahuatanga, tohu, maimoatanga

He he momo o kohakore whanau i roto i ngā tamariki. E whakaaro etahi o ratou ki te hei tino noa. Ko reira te mea he mate onge. he iti ratou nuinga. Heoi, tokomaha he nunu'a rawa nui. Ko tētahi o ēnei pathologies ko Noonan syndrome. Next, kia whakaaro tatou i te reira i roto i te kōrero atu. E whakaahua ana tēnei tuhinga pehea me aha reira puta Noonan syndrome. Ka hoki te mate Photo kia aroaro i roto i te kuputuhi.

Overview

Noonan syndrome Ko te māuiuitanga tuku. PTPN11 ira mutated e mau ana matua tuku ki te uri. Ka rite ki te tikanga, tangata i roto i tenei huakore. Na reira, tuku te ira kei roto i te rārangi whaea. Ko te tikanga tohua pūāhua hapu o te mate. take Rare o tuku-kore, engari kua oti te tuhituhi hoki ratou i roto i te mahi.

mōhiohio hītori

I tetahi wa mahi rite te mafatu, tākuta tamariki Zhaklin Nunan, mahi i roto i te whare hauora o te University o Iowa, ua ite ahau e tetahi rōpū o ngā tamariki, i ngā o e rua tamariki me kotiro, nei i stenosis pūkahukahu, maha āhuatanga e tupu iti, mokowā kanohi whanui, huirapa kaki kei auricles iti me te ptosis. Wherawhera i te huinga o mau faaiteraa o te mate ngakau ki ētahi atu abnormalities whanaketanga i roto i 833 tūroro, tuhituhi te tākuta i roto i te tuhinga 1962. I roto i te mahi whakaahuatia ia e iwa take i roto i nei i runga i te whakamārama o te koha ngakau momo congenital me āhuatanga āhuatanga kanohi, uma deformation , me ta'ofi. kitea te mate i rua i roto i te iwi toa, me te wahine.

Noonan Syndrome: Tohu

He he maha o ngā āhuatanga e te wehe i te tahi atu māuiuitanga. Ko ētahi o ēnei, i roto i ngā:

• tupu Iti. Women - 1.53, hoki nga tangata -. 1.63 m i te wa o te whanau rite te roa tinana me te taimaha o te tamaiti, ko te roto i rohe noa. tīmata ta'ofi i te tau o te 2-3 tau.
• Huringa kanohi. pāngia Tūroro Noonan syndrome, kua whānui mokowā kanohi aramona āhua. I roto i te kokonga o roto o te taiepa kiri he reira. tuhia hoki ptosis (kamo mahue) e tika ana ki te mahi uaua waimaero rānei, no te mea o nga turanga iti. Tata rua-hautoru o ngā tamariki katoa ki te disorders he raruraru o te kite. A, no te ptosis iti mara o tirohanga , me te whakawhanake i te squint.
• whare maumaui kauae. Kura underdeveloped, i reira he arcuate rangi tiketike. Rua kauae ki niho interposition he.
• ara iti deformation o te taringa ranei. Ka rite ki te hua o tenei Pākatokato e te rongonga waimaero.
• kaki poto me te whanui.
• pouaka ki nipples whānui mokowā Shield-āhua.
• Deformation o te whatīanga (congenital).
• Flatfoot.
• maihao Poto.

Malformations o nga whekau

Kei te maha haere tahi Noonan syndrome e raruraru i roto i te pūnaha Cardiovascular. I runga i te māuiuitanga papamuri whakakitea whāiti (stenosis) i roto i te kātua pūkahukahu, me te koha i roto i te pakitara wehewehe interventricular. nohoia te wahi tuarua ko te e abnormalities o te pūnaha genitourinary. Ko te kupu, whakakitea te whatukuhu hē pērā i hypoplasia (kore o te kiko) ngaro o tetahi tākihi ranei. Ki te whakaaro ki te pūhuruhurutanga, rerekē te reira i noa ki tino hapa. maha kitea Girls i muri i te tīmatanga o te paheke, i roto i te tamariki - he tino ngaro komurumurua cryptorchidism ranei. kitea hoki te takahi o spermatogenesis. I roto i ētahi wā, he tino ngaro te spermatozoa. whai i te nui haere toto ki te papamuri o ngā mahi mō te Noonan syndrome. kia whakaatu hoki ētahi tūroro abnormalities o te whanaketanga hinengaro i roto i te ngawari.

āhua

E rua ngā momo o te māuiuitanga:

• puka te utuafare,. rere ke te reira i momo autosomal-tino tuku. I roto i kawe o te uri ira mutant puta ki māuiuitanga.
• Ko te puka tāmutumutu. I roto i tenei take, puta te irakētanga i te take ki te take. I roto i tenei take tuku e kore e whakakitea.

take

Ko te take tino noa e whakaoho te māuiuitanga, ko te ira irakētanga PTPN11. pāngia ana tēnei take i roto i te 50% o tūroro. Heoi, i te tetahi ōrau o te iwi ki tenei syndrome ko he mārama te take ira. puta māuiuitanga tupu i roto i te tikanga tino autosomal. Ka taea te rongo i te syndrome e te irakētanga hou. Mai i tenei whai reira e kore te matua ki te ira e whai nui o te whai wāhi ki te whai i tetahi atu tamaiti.

tātaritanga

Kei te eke te reira i roto i runga i te āhuatanga o waho āhuatanga (whakaahuatia ana i runga). Ano i roto i te tātaritanga ako tawhā taiwhanga. I roto i ngā, i reira ko te heke o te testosterone kukū, XII upoo- tauwehe. He hoki taputapu, me te rangahau. Whakaritea e te X-ray o te whaturei, echocardiography, ECG. Mā te whakamahi i enei tikanga whakakitea abnormalities o whekau. kia hoki whakahau te tākuta kōrero o iranga rata.

mehua haumanu

I roto i te hononga ki te maimoatanga syndrome takoto ira hāngai te matua i whakakore tohu. A, no te whakaritea he mahi te cryptorchidism. I roto i ona komurumurua neke ki te Tunaroa. Ki te whakaiti o te kukū o te therapy taiaki androgen e tūtohu ana. I roto i te aroaro o te täkihi, i whakaritea tātari toto te. Ki reira, kawea te whakarau i roto i te tinana mā ngā hua pūkoro extrarenal purenga toto.