Syndrome Rubinstein-Teybi: take, maimoatanga, waitohunga

I teie mahana i reira e maha mate rerekē e kua tūtaki rawa uaua. I roto ia ratou - te irakētanga ira motuhake e puta pinepine. Heoi, ki te hiahia mohio katoa e pā ana ki a ratou. Ko te aha tenei ra e hiahia ana ahau ki te kōrero e pā ana ki te raruraru pērā i Rubinstein-Teybi syndrome.

He hītori iti

I te tīmatanga, e hiahia ana koe ki te mohio he aha te mea te mate i homai. Na, tenei syndrome i roto i te tuhinga i whakaahuatia tuatahi hoki i roto i 1963 e rua tākuta - Teybi me Rubinsheynom. I roto i te kororia o taua, Heoi, ka i te ingoa. E tano ia tapao e kore ko te mate rite taua, engari he tetahi irakētanga ira, e taea te pāngia kē i runga i te ahua o te manawanui tenei. Na, e tiro ana iwi āhuatanga craniofacial (kōhikohiko), maihao whanui. Hoki i reira he retardation hinengaro i roto i rerekē nekehanga. Well, kia tuhia te reira e te iwi ki tenei syndrome i ngā irakētanga i roto i rua ira:

• i roto i te ira CREB, kei i 16p13 ropu;
• i roto i te ira EP300 kei roto i 22q13 ropu.

I runga i nga take o te mate

He aha kia utua e koe whakarongo i te wahi tuatahi, whakaaro te syndrome Rubinstein-Teybi? Ko te take o te raruraru - i te aha te mea nui ki te korero. Ka rite ki kua whakahuatia i runga ake, ngā irakētanga puta i roto i te ira CREB e arata'i ki te ariā o te pūmua rerekē. Kei te āhua 10% o tūroro SVR hanga o te pūmua wāhanga tino ranei āraia. Ētahi atu ira kore ano e whai wāhi ki tenei tukanga.

taua whakatikatikanga nui puta kore neke atu i te 1% o tūroro. Heoi, i reira te whakahohe kē tetahi ira, kei nei i roto i 22q13.

He aha te mea i reira he irakētanga taua, e kore e taea e te kairangahau te mea. Ko te kupu, tautohe ratou e kore te te raruraru tuku i tetahi whakatupuranga ki tetahi (arā, he katea). Heoi, tupu katoa i roto i te whanaketanga fetal. He aha rite pānga reira - te kai, ina koa te taiao, peu kino ranei te mate motuhake roto i te hapūtanga pēpi - pūtaiao e kore tonu e taea e korero.

Faaiteraa o te mate

He aha ngä tohu kia tohu ai i te tangata kua Rubinstein-Teybi syndrome? Na, ki te hanga i te tākuta tātaritanga maha taea i muri i tonu te whanautanga o te tamaiti. Ko anake i roto i te ahua pēpi. Āhuatanga e tonu hanga ite ratou:

• ihu Whānui.
• koromatua Arā.

Na, ko te tino noa tenei tohu. Heoi, i reira e te tahi atu tohu e te hunga iti noa, a kore tūroro katoa.

Mō kōhikohiko kanohi

Ka rite ki kua whakahuatia i runga ake, ki te he Rubinstein-Teybi syndrome i ka hei maharatanga āhuatanga craniofacial motuhake te manawanui. He aha, na, ko reira?

1. I roto i te 100% o tūroro i reira he hyperplasia o te kauae runga. Āhuahira: ngao whāiti.
2. pinepine hoki, e pā ana ki 90% o tūroro e te uiui e te whakarereketanga ihu. riro ia rite te ngutu.
3. Kei te iti a tawhio noa 84% o ngā take o te mate i roto i ngā tamariki whakatokia taringa.
4. He 80% - Mongoloid, arā, whāiti wāhanga o te kanohi.
5. Tata 70% o tūroro i strabismus.
6. Ka taea te kite fontanelle mārōrō nui i roto i pā ana ki 40% o tūroro.
7. Na etahi tūroro (35%) i te raruraru pērā i microcephaly (he nui iti i roto i te pā ana taua iwi angaanga ki te tinana).

huringa maihao

Kia pehea te atu puta Rubinstein-Teybi syndrome? Na, anake i roto i te puka o maihao, ka taea e koe te tātari i te tūroro raruraru.

1. I roto i te 100% o ngā take i roto i te tūroro ki maihao roa me waewae atu.
2. Mō 87% o tūroro i ake he koromatua ki te koki toropā pera-ka karanga.
3. Well, te nuinga o tūroro (a tawhio noa 87%) o te maihao katoa e paku whakanekehanga (ka whakaritea ki te tangata hauora).

Huringa i roto i te tupu me te whanaketanga o te iwi

kia āwhina i te reira ki te mohio rite Rubinstein-Teybi, photo syndrome aha titiro reira. Na, i tika te titiro i te pikitia o te iwi ki tenei tātaritanga, he reira taea ki te hanga etahi whakatau. Heoi, i roto i enei tūroro kore he anake waho, engari ano hoki ā, e kore tetahi e taea te kite i te rerekētanga, me irakētanga.

1. Hoki taua iwi i reira ko te retardation hinengaro āhua. Ko te kupu, Ko te taumata o ratou IQ āhua i roto i 30-60 (te tikanga i roto i te rohe o 51).
2. Tata tūroro katoa (me e 90% o te tūroro) hokosia he momo o fifi kupu.
3. People ki tenei irakētanga roa iti. e kore e tangata tupu i runga 155 cm, wahine - 147 cm.

Kōhikohiko i roto i te ngakau

Kia pehea te atu kite i tenei tohu? Ko te kupu, arotakehia tūroro e etahi abnormalities cardiac.

• Ēnei iwi ductus arteriosus rite te pai kia rite ki te momo o hē ko te pakitara wehewehe interventricular.
• E mea pinepine pāngia coarctation o te haoraora, nga kōhikohiko o te piha te pūtahi o, Atrial hē septal.

E tano ia tapao e kore taua huringa e puta kia maha, e pupuri ana ratou i roto i pā ana ki 33% o tūroro.

Kei te hoki pinepine kitea Ētahi tohumate

He atu tohu e kia puta i roto i te iwi ki tenei syndrome.

1. Cryptorchidism. whakakitea te reira i roto i tata 80% o nga tangata. Tenei kore o komurumurua i roto i te Tunaroa no o ratou undescended.
2. I roto i te 75% o tūroro hirsutism whakakitea. Ko tenei tupu makawe nui haere o te momo tane: te waewae, ringa, uma.
3. Ano, he maha tūroro ki arrhythmias cardiac e kitea.

tātaringa

Tika i ki te kōrero e pā ana ki, rite ki te rangahau me pehea e taea te hoatu tākuta tenei tātaritanga. Na, riro tonu te pere tuatahi ki te raruraru rapu ahua o te manawanui. Heoi, i runga i tenei kaupapa anake ki te tātari poauau. I roto i tenei take, ka taea e ngā tākuta te whakamahi i te tikanga e whai ake nei:

• hanga e hiahiatia ana whakamātautau ira te. ka tātari Doctors te ira RAF mo te aroaro o irakētanga.
• Me matou rangahau pērā i ultrasound, ECG, echocardiography.
• te whakamahi i hoki tikanga mua. Tenei ako, e whakatau i te raupapa o te DNA tangata.
• A, o te akoranga, e hiahia ana te momo o ngā whakamātautau neurological.

maimoatanga

Ki te pāngia te manawanui kei ki Rubinstein-Teybi syndrome, te maimoatanga e hiahiatia ana e ia mo te tino. Heoi, i reira he kahore kōwhiringa kōwhiringa kotahi tikanga pharmacological me taputapu. ka kia takitahi katoa. Ko te mea tino nui i konei - te aroaro o etahi tohu. A tenei syndrome, i te ara, kua whakakitea i roto i te tūroro katoa i roto i ara maha, kia rite ki te mea he rerekētanga whānui.

Na, i roto i te kōhungahunga, e hiahia te manawanui therapy motuhake tinana, e kore te mea tawhiti muri te tamaiti i roto i te tupu. A mo te whanaketanga o te roro e Me ki te whakamahi i tētahi hōtaka mātauranga motuhake.

Tango rongoa me te wawaotanga hāparapara, e hiahiatia ana anake hoki tohu motuhake. E kore te mea taea tenei whanaketanga i roto i te wā katoa o te syndrome. Well, kia tuhia te reira e ki te maka o tenei raruraru e taea. e kore te mea he mate e taea te ora ki te rongoā tenei. Na, taero ki te āwhina akakoromaki anake ki etahi tohumate.

Matapae me pōauautanga

He aha atu koe e taea e te mea e pā ana ki taua mate rite Syndrome Rubinstein-Teybi? reira Me hoki ki te kia korerotia - matapae me katoa o pōauautanga. I roto i te mau fifi o te ati mōrahi meinga ngā disorders o te ngakau, arrhythmias, whanaketanga rerekē o te āhua ngakau. Ka taea hoki te puta te reira i tonu mate taringa, rongo mate whakawhanake. E mea pinepine, e hoki tūroro tohu i runga i te kiri.

1. Fifi ki te whangai tamariki ki tenei tātaritanga arata'i ki to ratou underdevelopment tinana.
2. Ko te take matua o te tahuti nei i roto i te tamariki i te wawe tau - he mate romahā. A e tika ana ki te ngakau ta'etotonú ratou.
3. No nia i te whanaketanga: kōhungahunga, kua roa te reira e pā ana ki 5-6 marama. I te tau o te 6 tau, ka taea e tūroro ako ki te pānui i, engari he nui ki runga ake i te taumata o te kaiauroro tuatahi te whanaketanga whānui.

Well, he aha he mea nui ki te mea, ki te whakaaro tatou i tenei raruraru rite te syndrome Rubinstein-Teybi - oranga. Hia taua iwi taea ora? Na, mau taote mea e he tino pai te matapae, ka he tiketike te auau ora.