Syndrome Rubinstein-Teybi: oonobangela, unyango, abantu abane

Namhlanje kukho izifo ezininzi ezahlukeneyo ekudityanwa kunqabile kakhulu. Phakathi kwabo - la yemfuza sofuzo ethile zenzeke kungeyonto ayenza rhoqo. Nangona kunjalo, kufuneka ukwazi yonk 'into kubo. Kungenxa yoko le nto namhlanje ndifuna ukuthetha ngengxaki efana Rubinstein-Teybi syndrome.

A incinane

Ekuqaleni, kufuneka ukuba wazi ukuba yintoni na esi sifo elinikiweyo. Ngoko ke, lo sifo kwi ncwadi wachazwa okokuqala ngowe-1963 ngoogqirha ezimbini - Teybi kunye Rubinsheynom. Imbeko leyo; Noko ke, waza igama. Kubalulekile ukuqaphela ukuba le nto isifo hlobo, kodwa kuguquka sofuzo ethile, leyo ukuba unesifo sele kwi imbonakalo umguli. Ngoko ke, abantu oyiboniselayo iimpawu craniofacial (mgaqweni), iminwe ububanzi. Kwakhona kukho ukukhubazeka engqondweni xa shiyana. Kulungile, kufanele kuqatshelwe ukuba abantu kule syndrome baba yemfuza sofuzo ezimbini:

• kwi gene CREB, sise 16p13 band;
• kwi gene EP300 ibekwe 22q13 band.

Ngomhla ezibangela sifo

Oko kufuneka sinikele ingqalelo kwindawo yokuqala, ucinga Rubinstein-Teybi syndrome? Izinto ezibangela le ngxaki - yiloo nto kubalulekile ukumxelela. Njengoko sele kukhankanyiwe ngentla apha, ukuziguqula kwenzeka kwi gene CREB ekhokelela kwi Yindibanisela i protini engaqhelekanga. Malunga nama-10% yemveliso izigulane SVR of a iproteni ivaliwe ngokuyinxenye okanye ngokupheleleyo. Ezinye izakhi Kwakhona igalelo kule nkqubo.

uhlengahlengiso ezinkulu efanayo kwenzeka hayi ngaphezulu kwe-1% kwizigulane. Noko ke, kukho sele iyasebenza omnye sofuzo, nto leyo ise 22q13.

Kutheni kukho kuguquka enjalo, abaphandi abakwazi ukuthetha. Ngenxa yoko, bexabana ukuba le ngxaki ayihambi ukusuka kwesinye isizukulwana ukuya kwesinye (umz kuba khona). Noko ke, yonke into eyenzekayo ngexesha Palsy. Yintoni kanye ichaphazela - ukutya, ingakumbi okusingqongileyo, imikhwa emibi okanye isifo esithile ngexesha yokumitha baby - izazinzulu Awuyazi.

Kubonakaliswa izifo

Ziziphi Iimpawu kusenokubonisa ukuba umntu Rubinstein-Teybi syndrome? Ngoko ke, ukuba enze oogqirha isifo badla kunokwenzeka ngoko nangoko emva kokuzalwa komntwana. Kwaba kuphela ngembonakalo baby. Iimpawu ovele bazenze ngayo:

• impumlo Wide.
• nasesithupheni Advanced.

Ngoko ke, le yeyona ixhaphakileyo iimpawu. Nangona kunjalo, kukho ezinye neziphawuli azixhaphakanga, kwaye zonke izigulane.

Malunga okungahambi zobuso

Njengoko sele kukhankanyiwe ngentla apha, ukuba ogulayo Rubinstein-Teybi syndrome waba iimpawu ezithile craniofacial Kuya kubonwa. Yintoni, ke, akunjalo?

1. Ngowe-100% ezigulane kukho hyperplasia kwemihlathi eliphezulu. Phawu: inkalakahla iingqameko.
2. Kananjalo njalo, malunga-90% ezigulane eziviwa a yokuguqulwa impumlo. Yena uba ngathi ngomlomo.
3. Bamalunga nama-84% amatyala sifo ebantwaneni ephantsi ezityalwe iindlebe.
4. A 80% - Mongoloid, okt iingqameko icandelo esweni.
5. Phantse 70% ezigulane babe strabismus.
6. Large cipande fontanelle kunokubonwa malunga-40% yezigulane.
7. Kwaye ezinye izigulane (35%) unengxaki efana microcephaly (abantu abanjalo ukhakhayi incinane kakhulu ngokunxulumene emzimbeni).

utshintsho umnwe

Indlela enye ibonakala Rubinstein-Teybi syndrome? Ngoko ke, kuphela ngohlobo iminwe, ungenza ithole izigulane ingxaki.

1. Ngowe-100% kwamatyala izigulane ngeminwe emide neenzwane kwandiswa.
2. Malunga ne-87% ezigulane abe ubhontsi phezulu kunye engile ekuthiwa-iphiramidi.
3. Kaloku, uninzi lwezigulane (malunga 87%) kuzo zonke iminwe kusasele kancinane (xa kuthelekiswa ne onempilo).

Utshintsho kwi ukukhula kunye nophuhliso lwabantu

Kusenokuba kunceda ukuba wazi into ikhangeleka ngathi Rubinstein-Teybi, photo syndrome. Ngoko ke, nje ngokujonga umfanekiso abantu abanale uphethwe, kuyenzeka ukuba wenze izigqibo ezithile. Noko ke, kule izigulane nje kuphela zangaphandle, kodwa ngaphakathi, akukho namnye unako ukubona utshintsho zofuzo.

1. Ngokuba abantu abanjalo kukho ukukhubazeka engqondweni esiphakathi. Ngenxa yoko, izinga IQ yabo malunga ngaphakathi 30-60 (ngokuqhelekileyo kummandla ka-51).
2. Phantse zonke izigulane (nokuba-90% ezigulane) ezinengxaki ezininzi kobunzima yokuthetha.
3. Abantu nalo olusetyenziswayo ngesithomo encinane. Amadoda musa ukukhula ngasentla 155 cm, abafazi - 147 cm.

Mgaqweni entliziyweni

Indlela enye ambone lo uphawu? Ngenxa yoko, izigulane zihlolwa ukungaqheleki ezithile inhliziyo.

• Aba bantu ductus arteriosus kwakunye ezininzi iziphene ke zekhala interventricular.
• Sivame ukuxilongwa coarctation le aorta, ezo mgaqweni ka vana aortic, iziphene atrial septal.

Kubalulekile ukuqaphela ukuba ezi nguqu musa kwenzeke njalo, baza kuvandlakanywa malunga-33% yezigulane.

Ezinye iimpawu nawo wabona rhoqo

Kukho nezinye iimpawu ezingenzeka kubantu sifo.

1. Cryptorchidism. Ebonakalisa phantse-80% yabantu. Oku kuqhwalela kwacala amasende kwi samatyhalarha ngenxa amdaka zabo.
2. Ngowe-75% yezigulane kubonakale hirsutism. Oku kukhula iinwele ukwanda ngowodidi eyindoda: imilenze, iingalo, esifubeni.
3. Kwakhona, izigulane ezininzi kunye arrhythmias kwentliziyo akhoyo.

ekuxilongweni

Mfuneko ukuba ukuthetha ngayo, ngokutsho ukuba baphande indlela oogqirha uyakwazi ukubeka isifo. Ngoko ke, intsimbi kwingxaki wophendlo yokuqala usoloko uba inkangeleko yesigulane. Noko ke, ngenxa yesi sizathu sodwa ukuxilonga ngqiqweni. Kulo mzekelo, oogqirha Ungasebenzisa ezi ndlela zilandelayo:

• Kufuneka uvavanyo yemfuza yenziwe. Oogqirha Baya kucalula RAF sofuzo ubukho zofuzo.
• Kufuneka izifundo ezifana ultrasound, ECG, echocardiography.
• Kwakhona usebenzisa indlela INTLANZI. Olu phononongo, nto leyo ebonisa ukulandelelana DNA yomntu.
• Kakade ke, kufuneka iindidi zovavanyo luvo.

unyango

Ukuba isigulane banesifo Rubinstein-Teybi syndrome, unyango awayeyifuna ukuze uqinisekise. Nangona kunjalo, akukho ukhetho ukhetho olunye ubuchule kunye nezixhobo imithi. Bonke baya kuba ngamnye. Eyona nto ibalulekileyo apha - ubukho iimpawu ezithile. Kwaye esi sifo, ngasendleleni, esibonakaliswa zonke izigulane ngeendlela ezininzi, njengoko sele Ukwahluka ngokubanzi.

Ngoko ke, kubantwana abancinci, isigulane kuya kufuneka unyango olulodwa emzimbeni, umntwana ayikho kude emva ulwando. Yaye uphuhliso ingqondo kuya kufuneka ukuba usebenzise inkqubo yemfundo eneemfuno ezizodwa.

amayeza Ukuthatha kwakunye yokungenelela ngotyando, kwakufuneka kuphela ezibonisa ezizodwa. Olu phuhliso akwenzeki kuzo zonke iimeko onaso. Kulungile, kufanele kuqatshelwe ukuba bahlukane nayo le ngxaki akunakwenzeka. Esi sisifo zinokunyangeka amayeza. Ngoko ke, amachiza ukunceda ukumelana kuphela iimpawu ezithile.

Uqikelelo kunye nobunzima

Yintoni enye wena ngezifo ezifana Syndrome Rubinstein-Teybi? Ukuqikelela zonke iintlobo iingxaki - kwakhona kufuneka ukuxelelwa. Phakathi ubunzima ingozi enkulu ukuba iingxaki ezahlukeneyo wentliziyo, arrhythmias, uphuhliso okungaqhelekanga shape kwentliziyo. Kwakhona kuthi gqolo usulelo indlebe, ubuthulu ukuphuhlisa. Amaxesha amaninzi, izigulane kwakhona iziva apha esikhumbeni.

1. Ubunzima kunye ukondla abantwana ngale sifo kukhokelela nokungaphuhliseki emzimbeni.
2. Eyona eziphambili ezibangela kwanokufa kwabantwana esemncinane - a usulelo sokuphefumla. Kwaye ngenxa ngentliziyo engafanelekanga.
3. Ngokuphathelele uphuhliso: lwabantwana ekuqaleni, oko isalityaziswa ngeenyanga malunga 5-6. Xa ndandineminyaka engama-6, izigulane banokufunda ukufunda, kodwa ke uphuhliso jikelele iphezulu kakhulu ngaphezu kwenqanaba le-ganda kuqala.

Kaloku, yintoni kubalulekile ukuba nithi, xa siqwalasela le ngxaki njenge syndrome Rubinstein-Teybi - sokuphila. Bangaphi abantu abanjalo baphile? Ngoko ke, oogqirha bathi lentelekelelo kakhulu elungileyo, kwaye izinga iphile eliphezulu.