Syndrome Rubinstein-Teybi: zimayambitsa, chithandizo, madokotala ananena zawo

Today pali matenda osiyanasiyana amene anakumana kawirikawiri. Pakati pawo - ndi masinthidwe jini yeniyeni wochitika infrequently. Komabe, kuti kudziŵa zonse za iwo. N'chifukwa chake lero Ine ndikufuna kulankhula za vuto monga syndrome Rubinstein-Teybi.

A mbiri pang'ono

Poyamba, muyenera kudziwa matenda anapatsidwa. Choncho, matenda izi mu mabuku anafotokozedwa koyamba mmbuyo mu 1963 ndi madokotala awiri - Teybi ndi Rubinsheynom. Polemekeza Komabe, ndi dzina lake. Dziwani kuti si matenda monga, koma wina jini kusintha, sipangakhalenso anapezeka kale pa maonekedwe a wodwalayo. Choncho, anthu kuonera zinthu craniofacial (anomalies), zala lonse. Komanso pali retardation maganizo amakhala osiyana. Chabwino, tisaiwale kuti anthu amene ali ndi matenda awa masinthidwe majini awiri:

• mu CREB jini, yomwe ili 16p13 gulu;
• mu EP300 jini ili mu 22q13 gulu.

Kuti zimayambitsa matenda

Kodi muyenera kulabadira mu malo oyamba, kuganizira syndrome Rubinstein-Teybi? Zimayambitsa vuto - ndicho chimene Nkofunika kudziwa. Monga tanenera kale pamwambapa, masinthidwe chidzachitika CREB jini yopita ku kaphatikizidwe ndi mapuloteni nthenda. Pafupifupi 10% odwala SVR yopanga mapuloteni ndi pang'ono kapena kwathunthu oletsedwa. majini ena komanso si zimathandiza kuti ndondomeko imeneyi.

Large kusintha omwewo akapezeka osapitirira 1% odwala. Komabe, pali kale adamulowetsa jini lina, limene lili mu 22q13.

N'chifukwa chiyani anthu ndi kusintha ofufuza sindingakhoze kunena. Choncho, iwo amati vuto si kuchoka mbadwo wina ndi mzake (ie ndi ayi). Komabe, chilichonse chimachitika pa chitukuko yoopsa. Kodi kwenikweni zingamvekere - chakudya, makamaka chilengedwe, makhalidwe oipa kapena matenda yeniyeni mkati gestation mwana - asayansi sindingakhoze kukuuzani.

Chiwonetsero cha matenda

zizindikiro zomwe zingasonyeze kuti munthu ali ndi matenda Rubinstein-Teybi? Choncho, kupanga matenda madokotala nthawi zambiri zotheka yomweyo pambuyo pa kubadwa kwa mwana. Izo zinali kokha mu maonekedwe mwana. Features kuti yomweyo okha ankaona:

• Lonse mphuno.
• MwaukadauloZida chala.

Kotero, ili ndi ambiri zizindikiro. Komabe, pali zizindikiro zina zochepa wamba, ndipo si odwala onse.

About anomalies nkhope

Monga tanenera kale pamwambapa, ngati wodwalayo ali ndi matenda Rubinstein-Teybi anali enieni mbali craniofacial udzachitika. Nanga kodi?

1. Mu 100% odwala pali hyperplasia la nsagwada chapamwamba. Mbali: mwapang'ono m'kamwa.
2. Komanso pafupipafupi, 90% odwala ziyesedwa mwa limasinthira mphuno. Iye akukhala ngati mlomo wa.
3. Mozungulira 84% a milandu ya matenda ana otsika anabzala makutu.
4. A 80% - Mongoloid, mwachitsanzo mwapang'ono gawo la diso.
5. Pafupifupi 70% a odwala ndi strabismus.
6. Large zapambuyo fontanelle Tingaone mu 40% odwala.
7. Ndipo ena odwala (35%) ndi vuto monga microcephaly (anthu otere chigaza n'chochepa kwambiri poyerekezera ndi thupi).

kusintha chala

Kodi wina limapezeka syndrome Rubinstein-Teybi? Choncho, kokha mwa mawonekedwe a zala, mukhoza oterewa odwala vuto.

1. Mu 100% milandu odwala ndi zala yaitali ndi zala imakula.
2. About 87% odwala ndi mwayigwira ndi otchedwa kumathandiza kupeza ngodya zabwino zozungulira.
3. Chabwino, ambiri odwala (kuzungulira 87%) ya zala onse pang'ono patsogolo (poyerekeza ndi munthu wathanzi).

Kusintha kukula ndi chitukuko cha anthu

Zingakuthandizeni kudziwa chimene chimaoneka Rubinstein-Teybi, syndrome chithunzi. Choncho, mofanana ndi kuyang'ana pa chithunzi cha anthu ndi matenda ichi, n'zotheka kuti mfundo zina. Komabe, odwala awa si kunja kokha, komanso mkati, palibe aliyense angathe kuona kusintha ndipo masinthidwe.

1. Anthu oterowo pali zolimbitsa maganizo retardation. Choncho, mlingo wa IQ awo pafupifupi mkati 30-60 (zambiri m'chigawo cha 51).
2. Pafupifupi odwala onse (ndipo 90% odwala) akukumana zosiyanasiyana mavuto kulankhula.
3. Anthu ndi kusintha izi msinkhu waung'ono. Sikuchitika kukula pamwamba 155 cm, akazi - 147 cm.

Anomalies mu mtima

Kodi wina anawona chizindikiro ichi? Choncho, odwala akufotokozedwa ena kuvutika mtima.

• Anthu ductus arteriosus komanso zosiyanasiyana vuto ndi interventricular septum.
• Kawirikawiri matenda coarctation kwa msempha, ndi anomalies wa valavu kung'ambika, matenda septal zopindika.

Dziwani kuti zimenezi sanalembedwepo kawirikawiri, iwo anati pafupifupi 33% odwala.

Zizindikiro zina amagwiritsidwa pafupipafupi anaona

Pali zizindikiro zina zimene zingachitike mu anthu ndi matenda izi.

1. Cryptorchidism. Iwo akuwonetseredwa mu pafupifupi 80% ya anthu. Kusowa machende mu scrotum chifukwa cha undescended awo.
2. Mu 75% odwala kuwonetseredwa hirsutism. Izi kuchuluka kukula tsitsi ndi a mtundu wamwamuna: miyendo, manja, pachifuwa.
3. Komanso, odwala ambiri ndi arrhythmias mtima alipo.

diagnostics

Kwenikweni kulankhula monga mwa kufufuza mmene madokotala mukhoza kuika matenda izi. Choncho, belu oyamba vuto kufufuza nthawi zonse amakhala maonekedwe wodwalayo. Komabe, pa mfundo imeneyi yokha matenda wodzikweza. Pankhaniyi, madokotala angathe kugwiritsa ntchito njira zotsatirazi:

• Amafuna mayeso majini wapangidwa. Madokotala kudzasanthulira ndi RAF jini pamaso pa masinthidwe.
• Tiyenera maphunziro monga ultrasound, ECG, echocardiography.
• Komanso ntchito NSOMBA njira. phunziro ili, lomwe ndiyo ndondomeko ya DNA anthu.
• Ndipo, ndithudi, muyenera zosiyanasiyana mayesero ubongo.

chithandizo

Ngati wodwalayo ndi anapezeka ndi matenda Rubinstein-Teybi, chithandizo womuthandiza motsimikiza. Komabe, palibe limodzi njira kusankha njira pharmacological ndi zida. Onse adzakhala payekha. Chinthu chofunika kwambiri apa - pamaso zizindikiro zina. Ndipo syndrome izi, ndi njira, akuwonetseredwa mu odwala onse m'njira zambiri, monga lili ndi masiyanidwe lonse.

Choncho, ana aang'ono, wodwalayo adzafunika wapadera mankhwala thupi, mwanayo si utsalira kukula. Ndipo kukula kwa ubongo afunika kugwiritsa ntchito maphunziro apadera.

Kumwa mankhwala komanso alowererepo opaleshoni, anafunika okha zizindikiro zapadera. Zimenezi sizingatheke milandu onse matendawa. Chabwino, tisaiwale kuti tichotse vuto zimenezi n'zosatheka. Izi si matenda amene angathe kuchiritsidwa ndi mankhwala. Choncho, mankhwala kuthandiza kupirira yekha ndi zizindikiro zina.

Zoneneratu ndi mavuto

Kodi mungachite kunena za matenda monga Syndrome Rubinstein-Teybi? Kuneneratu ndi mitundu yonse ya mavuto - nawonso ayenera kuuzidwa. Mwa mavuto ngozi pazipita chifukwa matenda osiyanasiyana a mtima, arrhythmias, nthenda chitukuko cha mawonekedwe mtima. Komanso angayambe mosalekeza matenda khutu kumva imfa kukulitsa. Nthawi zambiri, odwala komanso ndi mabala pa khungu.

1. Mavuto ndi kudyetsa ana ndi matenda umenewu umatipatsa underdevelopment lawo.
2. Zimayambitsa chachikulu cha imfa mwa ana aang'ono - matenda kupuma. Ndipo iwo ndi chifukwa mtima zosayenera.
3. Ponena za chitukuko: oyambirira mwana, ndi kuchedwa ndi za 5-6 miyezi. Pa zaka 6, odwala akhoza kuphunzira kuwerenga, koma chitukuko akukhudzidwira ndi kwambiri kuposa mlingo wa grader choyamba.

Chabwino, kodi nkofunika kuti, ngati tikambirana vutoli monga syndrome Rubinstein-Teybi - amayembekeza kukhala ndi moyo. Ndi anthu angati amenewa angakhale ndi moyo? Choncho, madokotala amanena kuti Mapa ndi wabwino ndithu, ndi mlingo kupulumuka ndi mkulu.