Syndrome Rubinstein-Teybi: zvinokonzera, kurapwa, fungidziro

Nhasi kune zvirwere zvakawanda zvakasiyana kuti vari akasanganawo chaizvo kashoma. Pakati pavo - chaiyo Gene kunotouraya zvinoitika Kazhinji. Zvisinei, zvinokosha kuziva zvose pamusoro pavo. Ndokusaka nhasi ndinoda kutaura kwakadaro dambudziko sezvo Rubinstein-Teybi syndrome.

A Nhoroondo shoma

Pakutanga, unofanira kuziva chii chirwere kupiwa. Saka, chirwere ichi mu mabhuku yakatanga kurondedzerwa shure muna 1963 vanachiremba maviri - Teybi uye Rubinsheynom. Zvisinei, kuremekedza, uye akanzi. Zvinokosha kucherechedza kuti ichi hachisi chirwere sezvo vakadaro, asi mumwe Gene mutation, izvo zvinogona chirwere kare pamusoro chitarisiko murwere. Saka, vanhu vari kuona craniofacial zvinhu (anomalies), rakafara minwe. Uyewo pane retardation mupfungwa pakawanda. Zvakanaka, zvinofanira kucherechedzwa kuti vanhu vane chirwere ichi vane kunotouraya muropa maviri:

• ari CREB Gene, riri pana 16p13 bhendi;
• ari EP300 Gene yaiva 22q13 bhendi.

On zvinokonzera chirwere

Zvaunofanira kuteerera pakutanga, nokuongorora Rubinstein-Teybi chirwere? Zvinokonzera dambudziko - ndizvo zvakakosha kutaurira. Sezvambotaurwa pamusoro kunotouraya kuitika mune CREB Gene inotungamirira kuti kwetunhu vanokara mapuroteni. Inenge 10% wevarwere SVR kugadzirwa ane puroteni iri zvishomanana kana zvachose kuvharidzirwa. Dzimwe majini uyewo haana kukonzera izvi.

Large chete kugadziridza kuitika asina kupfuura 1% wevarwere. Zvisinei, pane kare kusashanda mumwe Gene, riri muna 22q13.

Nei zvakadaro mutation, vatsvakurudzi havagoni kutaura. Saka, ivo vanoti dambudziko haina chinopfuudzwa kubva inorarama (kureva apo neapo). Zvisinei, zvose zvinoitika munguva fetus. Chii chaizvo zvinokanganisawo - zvokudya, kunyanya zvakatipoteredza, tsika dzakaipa kana rimwe chirwere panguva gestation mwana - masayendisiti achiri havagoni kukuudza.

Kuratidzwa chirwere

Ndezvipi zviratidzo zvingaratidza kuti munhu ane Rubinstein-Teybi chirwere? Saka, kuti chirwere vanachiremba kazhinji zvichiita pakarepo pashure kuberekwa kwemwana. Yakanga chete chitarisiko mwana. Features kuti pakarepo kuti pachavo akanzwa:

• Wide mhino.
• Advanced gunwe.

Saka, ichi ndicho zviratidzo. Zvisinei, pane zvimwe zviratidzo zviri ishoma, uye kwete varwere vose.

About chiso anomalies

Sezvambotaurwa pamusoro, kana murwere ane Rubinstein-Teybi chirwere akanga yakananga craniofacial zvinhu zvichange kuchengetwa. Saka, zviri?

1. Muna 100% wevarwere pane hyperplasia isiri yekenza rokumusoro shaya. Feature: kujekesa mukanwa.
2. Uyewo kakawanda, vanenge 90% wevarwere panoongororwa pedyo mhino alterations. Anova sezvinoita muromo.
3. Around 84% kuti zviitiko hosha iri vana pasi wakasimwa nzeve.
4. A 80% - Mongoloid, kureva kujekesa Chikamu ziso.
5. Vanenge 70% wevarwere vane strabismus.
6. Large Anterior fontanelle kunogona kuonekwa mune vanenge 40% wevarwere.
7. Uye vamwe varwere (35%) vane dambudziko akadai microcephaly (zvakadaro vanhu dehenya iduku zvikuru chokuita muviri).

changed chigunwe

Sei zvimwe anooneka Rubinstein-Teybi chirwere? Saka, chete muchimiro minwe, unogona kuziva kuti dambudziko varwere.

1. Muna 100% nyaya Varwere neminwe refu uye zvigunwe kuwedzerwa.
2. About 87% wevarwere vane thumb pamwe anonzi TOUR pamakona.
3. Eya, ruzhinji varwere (kumativi 87%) ose minwe vari mberi zvishoma (kana tichienzanisa hwakanaka munhu).

Zvakachinja kukura vanhu

Zvingakubatsira kuziva sokunge Rubinstein-Teybi, Photo syndrome. Saka, chete nokutarira mufananidzo vanhu vane chirwere ichi, zvinokwanisika kuti vamwe mhedziso. Zvisinei, muna varwere izvi hazvisi chete zvokunze, asiwo nechomukati, hapana munhu anogona kuona kuchinja uye kunotouraya.

1. Nokuti vanhu vakadaro pane mwero nepfungwa retardation. Saka, padanho IQ yavo anenge mukati 30-60 (kakawanda munzvimbo 51).
2. Anenge varwere vose (uye kuti 90% wevarwere) kusangana siyana kutaura matambudziko.
3. Vanhu vane ichi mutation miduku. Men regai kukura kupfuura 155 cm vakadzi - 147 cm.

Anomalies mumwoyo

Sei munhu kuona chiratidzo ichi? Nokudaro, varwere vari aongorora zvimwe abnormalities cardiac.

• Ava vanhu ductus arteriosus uyewo zvakasiyana siyana urema ndiyo interventricular septum.
• Kazhinji chirwere coarctation yacho yeropa, ivo anomalies ari kutsemuka vharuvhu, atrial septal kuremara.

Zvinokosha kucherechedza kuti kuchinja kwakadaro regai kuitika saka kazhinji, ivo vakachengeta munenge 33% wevarwere.

Zvimwe zviratidzo vari kakawanda kuchengetwa

Pane zvimwe zviratidzo kuti zvingaitika mune vanhu vane urwere ichi.

1. Cryptorchidism. It richiratidzwa kusvika 80% yevanhu. Izvi kushayikwa manhu vari scrotum nemhaka undescended.
2. Muna 75% wevarwere pachena hirsutism. Izvi zvakawedzera bvudzi kukura ane munhurume mhando: makumbo, maoko, chipfuva.
3. Uyewo, varwere vakawanda cardiac arrhythmias varipo.

Diagnostics

Havo kutaura, maererano kutsvakurudza sei vanachiremba vanogona kuisa kuongorora chirwere ichi. Saka, bhero yokutanga dambudziko kutsvaka nguva dzose inova murwere chitarisiko. Zvisinei, pamusoro tichishandisa ichi oga rokuongorora musoro. Muchiitiko chino, vanachiremba vanogona kushandisa anotevera nzira:

• Zvaida majini bvunzo anoitwa. Doctors ichaongorora kuti RAF Gene kuvapo kunotouraya.
• Tinoda zvidzidzo zvakadai Ultrasound, ECG, echocardiography.
• Uyewo kushandisa NEHOVE nzira. Kudzidza uku, uko anosarudza kutevedzana DNA kwevanhu.
• Uye, chokwadi, vanoda zvakasiyana-siyana chetsinga nemiedzo.

mabatiro

Kana murwere chirwere Rubinstein-Teybi urwere, mishonga aida kuti chokwadi. Zvisinei, hapana zvavangaita chete vakasarudzwa pharmacological nzira nematurusi. All uchava somunhu oga. Chinonyanya kukosha pano - kuvapo zvimwe zviratidzo. Uye chirwere ichi, nenzira, kunoratidzwa Varwere zvose munzira dzakawanda, sezvo ane yakafarikana variability.

Saka, muna muduku, murwere achada mumuviri kurapa chaiyo, mwana haasi kure mumashure kukura. Uye kukura uropi vanofanira kushandisa purogiramu dzidzo chaiyo.

Mishonga uyewo kuvhiya kupindira, chete zvaidikanwa anokosha anoratidza. Izvi hazvibviri dzose nyaya yacho syndrome. Zvakanaka, zvinofanira kucherechedzwa kuti ndeyokubvisa dambudziko izvi hazvibviri. Iyi haisi chirwere chinogona kurapwa pamwe nemishonga. Saka, zvinodhaka kubatsira kukunda chete nevamwe zviratidzo.

Zvaifungidzirwa uye matambudziko

Chiizve unogona kutaura pamusoro zvirwere zvakadai Syndrome Rubinstein-Teybi? Kufembera uye ose yematambudziko - asiwo anofanira kuudzwa. Pakati matambudziko kunonyanyisa ngozi kukonzera zvinetso zvakasiyana-siyana zviri mwoyo, arrhythmias, zvemamiriro kukura mwoyo chimiro. It anokwanisika kuitikawo ichi- nzeve zvirwere, kunzwa kurasikirwa kutanga. Kazhinji, varwere vari zvakare mavanga ganda.

1. Aiomerwa kudyisa vana chirwere ichi zvinotungamirira nezvavanenge underdevelopment.
2. The kukonzera hwenyama mune vana vaduku - munhu kufema chirwere. Uye zvinokonzerwa mwoyo kukodzera.
3. Achitaura budiriro: muduku, zvinonzi kunonoka munenge 5-6 mwedzi. Ndava nemakore 6 years, varwere vanogona kudzidza kuverenga, asi zvinonyatsorehwa kukura kuri substantially kupfuura mwero rokutanga mwana wechikoro.

Zvakanaka, chii zvakakosha kutaura, kana tikafunga dambudziko iri sezvo chirwere Rubinstein-Teybi - upenyu anotarisirwa. vanhu vakadaro vanogona kurarama Vangani? Saka, vanachiremba vanoti for rakanyatsojeka zvakanaka, uye wokurarama zvakakwirira.