Syndrome Rubinstein-Teybi: haddasawa, magani, hangen nesa

Yau akwai mutane da yawa daban-daban cututtuka da cewa ana ci karo sosai da wuya. Daga cikin su - da takamaiman gene maye gurbi cewa faruwa infrequently. Duk da haka, da bukatar su san kome game da su. Wannan shi ne dalilin da ya sa a yau ina so in yi magana game da irin wannan matsalar kamar yadda Rubinstein-Teybi ciwo.

A kadan tarihi

Da farko, kana bukatar ka san abin da yake ba cuta. Saboda haka, wannan ciwo a cikin adabi da aka farko da aka bayyana da baya a shekarar 1963 da likitoci biyu - Teybi da Rubinsheynom. A cikin girmamawa da cewa, duk da haka, da aka mai suna. Shi ne ya kamata a lura da cewa wannan ba wata cuta kamar yadda irin wannan, amma da wani gene maye gurbi, wanda za a iya bincikar lafiya riga a kan bayyanar da haƙuri. Saboda haka, mutane suna duba craniofacial siffofin (anomalies), fadi da yatsunsu. Har ila yau, akwai shafi tunanin mutum retardation a sãɓãwar launukansa digiri. To, ya kamata a lura da cewa mutane da wannan ciwo da maye gurbi a cikin biyu genes:

• a cikin CREB gene, located a 16p13 band.
• a cikin EP300 gene located in 22q13 band.

A cikin Sanadin cutar

Abin da ya kamata ka kula da fari, idan akai la'akari da Rubinstein-Teybi ciwo? A Sanadin matsalar - wancan ne abin da yake da muhimmanci ka gaya. Kamar yadda riga aka ambata a sama, maye gurbi da faruwa a cikin CREB gene da take kaiwa zuwa ga kira na wani mahaukaci gina jiki. Aƙalla 10% da marasa lafiya SVR samar da wani sunadari ne partially ko gaba daya katange. Sauran kwayoyin halittu ma ba da taimako ga wannan tsari.

Manyan guda gyara faruwa ba fiye da 1% da marasa lafiya. Duk da haka, akwai aka riga kunna wani gene, wanda aka located in 22q13.

Me ya sa ake irin wannan maye gurbi, da masu bincike ba zai iya ce. Saboda haka, da suka bayar da hujjar cewa matsalar ba a daukar kwayar cutar daga tsara zuwa wani (watau shi ne harben). Duk da haka, duk abin da ya faru a lokacin fetal ci gaba. Abin da daidai shi rinjayar - abinci, musamman da yanayi, miyagun halaye ko wani takamaiman cuta a lokacin gestation baby - masana kimiyya har yanzu ba zai iya gaya.

Bayyanuwar cuta

Abin da Manuniya iya nuna cewa mutum yana da Rubinstein-Teybi ciwo? Saboda haka, don yin wani bincike da likitocin sau da yawa ta yiwu nan da nan bayan haihuwar jariri. Shi ne kawai a cikin bayyanar baby. Features cewa nan da nan sa kansu ji:

• Wide hanci.
• Advanced yatsa.

Saboda haka, wannan shi ne ya fi kowa bayyanar cututtuka. Duk da haka, akwai sauran Manuniya da suke da ƙasa da na kowa, kuma ba dukan marasa lafiya.

Game da fuska anomalies

Kamar yadda riga aka ambata a sama, idan haƙuri yana Rubinstein-Teybi ciwo da takamaiman craniofacial siffofin za a kiyaye. Abin da, sa'an nan, shi ne shi?

1. A 100% da marasa lafiya akwai hyperplasia daga cikin manya muƙamuƙi. Feature: quntata palate.
2. Har ila yau, akai-akai, game da 90% da marasa lafiya ana tuhumarmu da wani hanci gyare-gyare. Ya zama kamar baki.
3. Around 84% na lokuta da cutar a yara ne low dasa kunnuwa.
4. A 80% - Mongoloid, watau quntata sashe na ido.
5. Kusan 70% na marasa lafiya da strabismus.
6. Manyan agara fontanelle za a iya gani a game da 40% da marasa lafiya.
7. Kuma wasu marasa lafiya (35%) da matsala kamar microcephaly (irin wadannan mutane kwanyar ne da yawa karami dangane da jiki).

canji yatsa

Ta yaya kuma bayyana Rubinstein-Teybi ciwo? Saboda haka, kawai a cikin nau'i na yatsunsu, za ka iya gane asali matsalar marasa lafiya.

1. A 100% na lokuta a marasa lafiya tare da dogon yatsunsu da yatsun kafa mika.
2. Game da 87% da marasa lafiya da yatsu up tare da abin da ake kira radial kusassari.
3. To, mafi yawan marasa lafiya (a kusa da 87%) na dukkan yatsunsu suna dan kadan ci gaba (idan aka kwatanta da wani m mutum).

Canje-canje a cikin girma da kuma ci gaban da mutane

Yana iya taimaka wa san abin da ya kama Rubinstein-Teybi, photo ciwo. Saboda haka, kawai ta hanyar kallon wani hoto na mutane tare da wannan ganewar asali, yana yiwuwa ya sa wasu karshe. Duk da haka, a cikin wadannan marasa lafiya ne ba kawai waje, amma kuma ciki, babu wanda zai iya ganin canje-canje da kuma maye gurbi.

1. Ga irin wadannan mutane akwai mai tsakaitãwa shafi tunanin mutum retardation. Saboda haka, matakin da su IQ ne kamar a cikin 30-60 (yawanci a yankin na 51).
2. Kusan dukan marasa lafiya (da cewa 90% na marasa lafiya) fuskantar wani iri-iri na jawabin matsaloli.
3. Mutane tare da wannan maye gurbi kananan jiki. Maza ba su girma sama 155 cm, mata - 147 cm.

Anomalies a cikin zuciya

Ta yaya kuma gani da wannan alama? Saboda haka, marasa lafiya suna duba wasu cardiac munanan.

• Wadannan mutane ductus arteriosus kazalika da dama lahani ne interventricular septum.
• Sau da yawa kamu coarctation na lakã, da anomalies na aortic bawul, atrial septal lahani.

Shi ne ya kamata a lura da cewa irin wannan canje-canje ba faruwa haka sau da yawa, suna lura a game da 33% da marasa lafiya.

Sauran cututtuka ma akai-akai lura

Akwai sauran cututtuka da za su iya faruwa a cikin mutane tare da wannan ciwo.

1. Cryptorchidism. Yana bayyana a kusan 80% na maza. Wannan rashin golaye a Kwalatai (Scrotum) saboda su undescended.
2. A 75% da marasa lafiya bayyananne hirsutism. Wannan ya karu gashi girma ne na namiji type: kafafu, hannaye, kirji.
3. Har ila yau, da yawa marasa lafiya da cardiac arrhythmias ne ba.

bincikowa da

Dole na magana game da, bisa ga bincike da yadda likitoci iya sa wannan ganewar asali. Saboda haka, da farko kararrawa zuwa search matsalar ko da yaushe zama haƙuri ta bayyanar. Duk da haka, a kan wannan hasashe shi kadai don gane asali m. A wannan yanayin, likitoci za su iya amfani da wadannan hanyoyin:

• Ake bukata kayyade gwajin da aka yi. Likitoci za su bincika Sojan Sama gene for gaban maye gurbi.
• Muna bukatar nazarin kamar duban dan tayi, ECG, echocardiography.
• Har ila yau, ta amfani da kifi Hanyar. Wannan binciken, wanda kayyade jerin adam DNA.
• Kuma, ba shakka, bukatar da dama neurological gwaje-gwaje.

magani

Idan haƙuri ne kamu da Rubinstein-Teybi ciwo, magani ya ake bukata domin tabbatar. Duk da haka, akwai wani guda zaži selection pharmacological dabaru da kuma kayan aikin. All zai zama akayi daban-daban. Abu mafi muhimmanci a nan - a gaban wasu cututtuka. Kuma wannan ciwo, ta hanyar, aka bayyana a cikin dukan marasa lafiya a hanyoyi da dama, kamar yadda yana da fadi da canzawa.

Saboda haka, a farkon yara, da mãsu haƙuri bukatar musamman jiki far, da yaro ne ba da nisa a baya a ci gaba. Kuma ga ci gaban da kwakwalwa za bukatar amfani da wani ilimi na musamman shirin.

Shan magunguna, kazalika da m baki, kawai ake bukata domin na musamman alamomi. Wannan ci gaba ne ba zai yiwu a duk lokuta na ciwo. To, ya kamata a lura da cewa mu rabu da wannan matsala shi ne ba zai yiwu ba. Wannan ba wata cuta da za a iya warke tare da magani. Saboda haka, kwayoyi don taimaka jimre kawai tare da wasu cututtuka.

Kintace da kuma rikitarwa

Me kuma za ka ce game da irin wannan cututtuka kamar ciwo Rubinstein-Teybi? Hasashen da kuma dukan rikitarwa - shi ma yana bukatar da za a gaya. Daga cikin matsaloli na matsakaicin hatsari sa daban-daban cuta na zuciya, arrhythmias, mahaukaci ci gaban da zuciya siffar. Yana kuma iya faruwa ci gaba da kunne cututtuka, ji asarar ci gaba. Sau da yawa, marasa lafiya ma scars a kan fata.

1. Matsalolin da ciyar da yara tare da wannan ganewar asali take kaiwa zuwa su jiki underdevelopment.
2. Babban Sanadin mace-mace a cikin yara da wuri, tun shekaru - a numfashi kamuwa da cuta. Kuma su ne saboda rashin zuciya.
3. Game da ci gaban: farkon yara, shi an jinkirta ta game da watanni 5-6. A cikin shekaru 6 da shekaru, marasa lafiya za su iya koyon karatu, amma da sauran ci gaba ne ma fi matakin farko aji.

To, abin da yake da muhimmanci a ce, idan muka yi la'akari da wannan matsalar kamar yadda wani ciwo Rubinstein-Teybi - rayuwar jama'a. Ta yaya da yawa irin mutanen da za su iya rayuwa? Saboda haka, likitoci sun ce da aka yi hasashen ne quite mai kyau, da kuma rayuwa kudi ne high.