Syndrome Rubinstein-Teybi: izimbangela, ukwelashwa, onalesi sifo

Namuhla kukhona izifo eziningi ezahlukene ukuthi ihlangabezane kakhulu kuyaqabukela. Phakathi kwabo - ethize zofuzo ezivumelana zenzeka njalo. Nokho, isidingo sokwazi konke ngabo. Lokho ngifuna ukukhuluma ngenkinga ezifana Rubinstein-Teybi syndrome kungani namuhla.

Umlando omncane

Ekuqaleni, udinga ukwazi ukuthi yini lesi sifo inikezwe. Ngakho, lesi sifo ngo-izincwadi owokuqala owachaza lesi emuva ngo-1963, odokotela ababili - Teybi futhi Rubinsheynom. Nokho, Yokudumisa ukuthi, futhi yaqanjwa. Kuyinto ephawulekayo ukuthi lo mshumayeli akusona isifo njengoba enjalo, kodwa kwatholakala ukuthi isakhi sofuzo kuguquka ezithile, okungase ihlonzwe kakade ukubukeka isiguli. Ngakho, abantu babuka izici craniofacial (anomalies), iminwe ububanzi. Futhi kukhona retardation engqondo ngezindlela ezingafani. Nokho, kufanele kuphawulwe ukuthi abantu nale syndrome zinenkinga ukuguquka kwezakhi zofuzo zofuzo ezimbili:

• e isakhi sofuzo CREB, sise 16p13 band;
• e isakhi sofuzo EP300 elise 22q13 band.

On the izimbangela zesifo

Yini kufanele sinake kwasekuqaleni, abe anaka Rubinstein-Teybi syndrome? Izimbangela inkinga - yilokho kubalulekile ukutshela. Njengoba sekushiwo ngenhla, ukuguqulwa kwezakhi zofuzo zenzeka isakhi sofuzo CREB eholela zamagama i amaprotheni ongaphilile. Cishe ama-10% ukukhiqizwa iziguli SVR yamaprotheni kancane noma ngokuphelele ivinjiwe. Okunye izakhi zofuzo nazo nomthelela kule nqubo.

Elikhulu ukulungiswa efanayo kwenzeka hhayi ngaphezulu kuka-1% eziguli. Nokho, lapho isivele isebenze omunye isakhi sofuzo, esemgwaqweni 22q13.

Kungani kukhona kuguquka esinjalo, abacwaningi alinakusho. Ngakho, bexabana ukuthi inkinga ayihambi kusuka kwesinye isizukulwane idluliselwe kwesinye (ie kuyinto oqabukelayo). Nokho, konke kwenzeka ngesikhathi kwengane esiswini. Yini kahle hle ithinta - ukudla, ikakhulukazi imvelo, imikhuba emibi noma isifo ethize phakathi sokukhulelwa umntwana - ososayensi namanje Ngeke sasho.

Ukubonakaliswa isifo

Yiziphi izinkomba kungase kubonise ukuthi umuntu unalo Rubinstein-Teybi syndrome? Ngakho, ukwenza odokotela komdlavuza ngokuvamile kungenzeka ngokushesha ngemuva ukuzalwa komntwana. Kwakungenxa nje ngokubukeka ingane. Izici ukuthi ngokushesha bazenza wazizwa:

• ekhaleni Wide.
• thumb Okuthuthukisiwe.

Ngakho, lokhu yikho okuvame kakhulu izimpawu. Nokho, kukhona nezinye izici okungabonakali ezivamile, hhayi zonke iziguli.

Mayelana anomalies ebusweni

Njengoba sekushiwo ngenhla, uma isiguli Rubinstein-Teybi syndrome kwadingeka izici ezithile craniofacial sizoba. Khona-ke, ingabe?

1. Ngo-100% eziguli kukhona Hyperplasia we ongenhla. Isici: ulwanga ayisesemikhulu.
2. Futhi njalo, cishe 90% eziguli zihlolwa ngumuntu ushintsho ekhaleni. Uba njengomuntu umlomo.
3. Babalelwa ku-84% amacala sifo nezingane ongaphakeme itshalwe izindlebe.
4. A 80% - Mongoloid, okusho ayisesemikhulu ingxenye iso.
5. Cishe 70% eziguli babe strabismus.
6. Elikhulu anterior fontanelle kungabonakala mayelana 40% eziguli.
7. Futhi ezinye iziguli (35%) unenkinga efana microcephaly (okufana abantu skull lincane kakhulu maqondana emzimbeni).

ushintsho umunwe

Ikhona yini enye indlela ivela Rubinstein-Teybi syndrome? Ngakho, kuphela ngesimo iminwe, ungakwazi ukuxilonga iziguli inkinga.

1. Ngo-100% amacala in iziguli neminwe nezinzwane ezinde enwetshiwe.
2. Mayelana 87% eziguli abe kuhle ne okuthiwa engeli osabalalayo.
3. Nokho, iningi leziguli (87%) wabo bonke iminwe kancane isihambile (uma iqhathaniswa umuntu enempilo).

Izinguquko in ukukhula nokuthuthuka kwabantu

Kungase kusize ukwazi ukuthi kubukeka kanjani Rubinstein-Teybi, isithombe syndrome. Ngakho, nje ngokubheka isithombe abantu nale Ihlahlubo, kungenzeka ukwenza eziphethweni eziqinisekile. Nokho, kulezi ziguli akuyona kuphela zangaphandle, kodwa futhi yangaphakathi, kungekho okwazi ukubona izinguquko futhi ukuguquka kwezakhi zofuzo.

1. Kubantu abanjalo kukhona retardation engqondo ngokulinganisela. Ngakho, izinga IQ yabo cishe ngaphakathi 30-60 (ngokuvamile esifundeni 51).
2. Cishe zonke iziguli (nokuthi-90% eziguli) uhlangabezana ezihlukahlukene yokukhuluma nobunzima.
3. Abantu nale kuguquka kwesiqu encane. Abesilisa ayibi ngaphezu 155 cm, abesifazane - 147 cm.

Anomalies enhliziyweni

Ikhona yini enye indlela ukubonile lokhu uphawu? Ngakho, iziguli zihlolwa kwezinso ezithile inhliziyo.

• Laba bantu ductus arteriosus kanye ezihlukahlukene ukukhubazeka iyona septum interventricular.
• Ngokuvamile kutholakala ukuthi uphethwe yini coarctation le-aorta, le anomalies of valve yomthambo i-aorta, atrial ukukhubazeka septal.

Kuyaphawuleka ukuthi ushintsho olunjalo azisenzeki kaningi, basuke ebonwe mayelana 33% eziguli.

Ezinye izimpawu nazo njalo waphawula

Zikhona nezinye izimpawu ukuthi kungenzeka abantu yilesi sifo.

1. Cryptorchidism. Kubonakaliswa cishe 80% amadoda. Lokhu ukungabi amasende ku scrotum ngenxa undescended yabo.
2. Ngo-75% eziguli manifest hirsutism. Lokhu kunyuke ngo izinwele ukukhula ohlobo besilisa: imilenze, izingalo, esifubeni.
3. Futhi, iziguli eziningi nge arrhythmias inhliziyo abakhona.

ukuhlola

Kudingeke ukhulume, ngokuvumelana basesha kanjani odokotela singayisebenzisa kanjani ngokuphumelelayo le uphethwe. Ngakho, insimbi ngowokuqala inkinga yosesho njalo uba ukubukeka lesiguli. Nokho, kule kukodwa ukuxilonga akanangqondo. Kulokhu, odokotela angasebenzisa izindlela ezilandelayo:

• Kuyadingeka test zofuzo senziwa. Odokotela sizohlaziya RAF isakhi sofuzo i-khona ukuguquka kwezakhi zofuzo.
• Sidinga izifundo ezifana ultrasound, ECG, echocardiography.
• Futhi usebenzisa INHLANZI indlela. Lolu cwaningo, okuyinto inquma ukulandelana DNA yomuntu.
• Futhi-ke, kudingeka ezihlukahlukene ukuhlolwa kobuchopho.

ukwelashwa

Uma isiguli sekutholakele ukuthi sine- Rubinstein-Teybi syndrome, ukuphathwa ayezidinga ngempela. Nokho, akukho Ukukhetha option single amasu kwemithi kanye namathuluzi. Zonke kuyoba ngamunye. Into ebaluleke kakhulu lapha - khona yezimpawu zesifo esithile. Futhi yilesi sifo, ngasendleleni, kubonakala kuzo zonke iziguli ngezindlela eziningi, njengoba has a kokuhlukana ububanzi.

Ngakho, ekuqaleni kuka ebuntwaneni, isiguli uzodinga ukwelashwa ezikhethekile ezingokomzimba, ingane akuyona kude ngemuva ekukhuleni. Futhi sokuthuthukisa ubuchopho Uzodinga ukusebenzisa isimiso esikhethekile imfundo.

nemithi Ukuthatha kanye kokungenela kuhlinzwa, kwakudingeka yizinkomba ekhethekile kuphela. Lesi senzakalo akunakwenzeka kuzo zonke izimo yalesi sifo. Nokho, kufanele kuphawulwe ukuthi balahle le nkinga akunakwenzeka. Lokhu akusona isifo ukuthi ingelapheka bathathe imithi yabo. Ngakho, izidakamizwa kokusisiza ukuba sibhekane nesimo kuphela yizimpawu ezithile zalesi sifo.

Izibikezelo kanye nezinkinga

Yini enye ongayisho izifo ezifana Syndrome Rubinstein-Teybi? Ukubikezela kanye zonke izinhlobo yezinkinga - liphinde idinga ukutshelwa. Phakathi kwezinkinga ingozi esiphezulu kubangele kwempilo kwenhliziyo, arrhythmias, ukuthuthukiswa okungavamile ukuma kwenhliziyo. Iphinde singenzeka ngokuqhubekayo indlebe izifo, ukulahlekelwa kukuzwa ukuthuthukisa. Ngokuvamile, iziguli nazo izibazi esikhumbeni.

1. Izinkinga ukusuthisa izingane nale Ihlahlubo kuholela nokungathuthuki zabo ezingokwenyama.
2. Ziyini izimbangela eziyinhloko zalokhu of nokushona kwezingane zisencane - izinkinga zokuphefumula. Zingamashumi ngenxa inhliziyo okungafanele.
3. Ngokuphathelene ukuthuthukiswa: zisencane, ke ibambezeleke ezinyangeni 5-6. Lapho eneminyaka engu-eminyakeni 6, iziguli bangafunda ukufunda, kodwa ukuthuthukiswa jikelele kakhulu kunokujwayelekile ezingeni ibanga lokuqala.

Hhayi-ke, kubalulekile ukusho, uma sicabangela le nkinga njengoba syndrome Rubinstein-Teybi - bempilo. Bangaki abantu abanjalo angaphila? Ngakho, odokotela bathi isibikezelo muhle ngempela, futhi izinga lokusinda kuphezulu.