Cornelia de Lange syndrome: ifoto, izinto, iimpawu, uphethwe, ALS, iminyaka yobomi, unyango

izifundo ezininzi eziphilayo yesikolo khumbula ukuba ingcaciso yemfuza ezidluliselwa ukusuka Uyise nonina wabantwana babo, na zofuzo zesintu ibandakanya 23 izibini zofuzo. Iqulethe malunga 28,000 yemfuza, ngalinye lidlala indima ebalulekileyo ekubunjweni umzimba womntu. utshintsho Mutational kuphela omnye kubo kungabangela cornelia de Lange syndrome, a zingambi kakhulu, kwaye kwiimeko ezininzi yaye kakhulu sisifo esibi, ngokufuthi ngokungasingisi kufeni. Ababhali abaninzi bathi abo nokubandezeleka kulo syndrome abanandlela. Kodwa ukwenza ithemba, ngenxa yokuba inzululwazi mihla kunye namayeza ukwenza imimangaliso ngokwenene.

Le etymology igama

Cornelia de Lange syndrome ogama emva kwakhe ukuchaza ngokweenkcukacha wezifo ekuthiwa cornelia de Lange, kwi-30 kule nkulungwane yamashumi amabini owayehlala yaye esebenza eNetherlands. Yena ayisindi ekwenzeni isiko lakhe baphawula 5 Kwiimeko ezinjalo, ngexesha lokugqibela amantombazana kuphela ababini hayi nezihlobo. Ngowe-1933, uKorneli wathabatha inkcazelo eneenkcukacha kunye nesiphelo kokuma kwakhe. Kodwa kakhulu ekuqaleni (ngo-1916) ukuba esi sifo sifo yaye ichazwe ngokwenkcukacha ugqirha German W. Brahman, ngoko ke badla ukusebenzisa igama Brahman syndrome - Lange. Ukongeza, igama eliqhelekileyo onaso ka-Amsterdam, njengoko isixeko ebhalwe abantwana nje ezintathu, awafunyanwayo le ngezifo. Onke amagama amathathu - banye kunye sifo. Kufunyaniswe kwilizwekazi ngalinye, abantu bazo zonke iintlanga kunye namaqela ezizwe, kunye rhoqo efanayo zombini amakhwenkwe kunye namantombazana ngokufanayo. Iminyaka phantse elikhulu ukususela nenkcazelo yokuqala, safunda iinkcukacha iimeko 400 kwesi sifo.

Okungahambi ukhakhayi kunye nesikhumba

Cornelia de Lange syndrome ukuze kurhanelwa ukusuka kwimizuzu yokuqala yobomi baby. Iimpawu Primary:

1. ubunzima Low ukuzalwa (malunga 2/3 oluqhelekileyo).

2. mgaqweni intamo:

- microcephaly (ukhakhayi abali-10% ngaphantsi kunesiqhelo (98% ezigulane);

- brachycephaly (ukwanda nenkalo ezinqamlezayo (ububanzi) loMthetho ukhakhayi kuthelekiswa imilinganiso yalo longitudinal);

- ukuncitshiswa ubuchopho entloko.

Ngaphezu kwesiqingatha seentsana bakubona anda pilosity umva, kwaye ngamanye amaxesha umzimba wonke. Isikhumba zeentsana nama 2/3 ipatheni cyanotic neempahla elungileyo zibonwe (kwentlenga ulusu), kodwa oku uphawu ayikho kubaluleke kakhulu uxilongo kwesi sifo.

okungahambi zobuso

Iziphene phezu kobuso usana zezona iinqobo kakhulu edlamkileyo ukuxilonga cornelia de Lange Syndrome. Photo baby ngentla ibonisa ngokucacileyo oku. A ukutenxa nesithethe zezi:

- ezichazwe ngokunjalo iintshiyi azotywe, ziyahlangana kwi ibhulorho (99% amatyala);

- ezintle, imivumbo elide, ngokufuthi recurved (99%);

- impumlo encinane, nto leyo impumlo ezivelileyo phambili (88%);

- ebanzi nechibi ibhulorho ngeempumlo (88%);

- nomlomo iikona bazifinyeza (94%);

- umgama unconventionally omkhulu phakathi impumlo kunye nemilebe;

- iindlebe ezisezantsi-set;

- hypoplasia (hypoplasia) kwemihlathi elisezantsi (84%);

- ephantsi kakhulu ukwakweli ebunzi kunye / okanye Nape umda iinwele (94%).

Zokwahluka ngasentla phezu kobuso yeentsana bangaya yonke okanye kuphela nje ezimbalwa.

Mgaqweni amalungu zangaphakathi

Hypoplasia (baswele), neziphithiphithi zophendlo lwezifo ekubunjweni amalungu lwangaphakathi ingozi enkulu kubomi babantwana eziye zachongwa cornelia de Lange syndrome. Uxilongo iquka MRI, X-ray, ultrasound, rhinoscopy, uhlalutyo cytogenetic kunye nezinye iindlela zale mihla.

Kulo sifo waphawula:

- atresia choanal, okanye ngaphezulu nje, ekuphazamiseni lweHo- ngeempumlo (oku ngezifo ngokuphelele ngeke enxulumene kunye de Lange syndrome yaye lula axilonge indlela usana ukuphefumla okanye ngokusebenzisa uphenyo);

- iziphene isakhiwo intliziyo (malformations semithambo, izivingco, ukudideka);

- nezifo zesisu (cecum movable, nabanye);

- iziphene kwenkqubo enzala (malunga nama-50% ezigulane);

- cysts phezu izintso, hydronephrosis;

- leengxaki in isicwili sobuchopho (convolutions dysplasia, aplasia of the I-corpus kunye nabanye);

- phezulu kakhulu okanye inkalakahla lips;

- cryptorchidism.

Kwakhona, akukho mfuneko ukuba umntwana kuzo zonke iziphene zingentla izibilini.

Mgaqweni yenkqubo musculoskeletal

Neonates ingaba iziphene ngethambo, yomqolo, Isifuba, nto leyo nayo kwafunyaniswa cornelia de Lange Syndrome (iifoto zabantu sifo zithiwe thaca kweli nqaku).

Ezinye iziphene abonakala ngoko nangoko. Zezi:

- engekho iminwe omnye okanye ngaphezulu;

- iminwe tho (idla apha emilenzeni);

- umqolo gqitha kunye / okanye nesifuba.

Xa umntwana ekhula sele iyinto ezinxaxhileyo kakhulu ebalulekileyo zilandelayo:

- abazizidalwa ngokukhula (kwezinye iimeko, ezidalwa);

- hypoplasia, yalityatya ngokwamathambo kokunciphisa;

- izandla ezincinane neenyawo;

- intamo emfutshane kakhulu;

- ukunciphisa amandla bend engqinibeni, unbend (contracture).

ukungaqheleki luvo kunye nezifo ze izitho

Ngelishwa, kukho ezinye iingxaki ezininzi abantwana uxilongwe "cornelia de Lange syndrome." Iimpawu enxulumene nemeko luvo lo mntwana, kungaba:

- kubelekwa ncanca babe, ngokufuthi linganihlanzi;

- ukushukumiseka eliphantsi umsebenzi ngokomzimba;

- izihlunu hypotonia (kwezihlunu uvikivwa, akukho amandla ezandleni nasezinyaweni);

- bekusenzeka ngamaxesha of ukuxhuzula.

Abantwana kunye syndrome de Lange abanengxaki yokuva, emehlweni kunye nentetho. Abaninzi kubo uthetha nelizwi elincinane okanye abanalo konke na ubudala. Abazali uqaphele ukuba uninzi abantwana ukuveza iminqweno zabo izimbo zomzimba. Vision ukuba iingxaki ezifana:

- strabismus;

- ukubona;

- astigmatism;

- yoma ye-luvo optic.

ekukhuleni

Cornelia de Lange syndrome ukongezelela zonke ezinye iingxaki zempilo ebangela ukukhubazeka engqondweni, nto leyo ibhiyozelwa phantse wonke umntwana ogulayo, yaye ngowe-80% yamatyala abafunyenwe imbecility okanye debility. Nangona kunjalo, kukho abantwana kunye de Lange Syndrome abaya preschools rhoqo kunye nezikolo. Kuxhomekeke apho yeentlobo ezimbini kweso sifo. Eyokuqala kuthiwa sakudala, apho kukho yahlukene ezininzi ukusekwa kunye nokusebenza enyama yangaphakathi, ukungaqheleki yangaphandle kwathiwa yokudodobala kwengqondo. Le fom lwesibini ngokuqhelekileyo ngokuba lubricated. Xa waphawula ukungaqheleki ezithile lwangaphandle, kukho ezinye iingxaki kunye nezibilini, kodwa ke uphuhliso ngokwengqondo kuzo nokubambezeleka umda.

Njengoko abazali ingxelo abantwana kunye syndrome de Lange na ubudala, musa ukubuza ukuba indlu yangasese, ngokufuthi sinotyekelo aphazamiseke ungathanda ukwenza iintlobo engaqhelekanga abantwana amanyathelo obusempilweni: rhoqo ningazikrazuli iphepha, ube naye, wokonakalisa yonke into iwela ezandleni zabo, lonke ixesha ukuba kwisangqa . izenzo ezinjalo abantwana abafana nabo ezolile.

Ezibangela isifo

Kwadlula phantse kwiminyaka elikhulu ukususela kwixesha xa echazwe kuqala cornelia de Lange syndrome. Ubangelwa sifo ngelo xesha wafumanisa. Ezi izakhi kwi zofuzo. Elona nani likhulu lamatyala ezibhalwe kwiDNA kwi chromosome-5, kanye ngakumbi NIPBL sofuzo, nto leyo ibekwe egxalabeni lakhe, "p." Ipesenti encinane syndrome de Lange kubhalwe abantu kuguquka zofuzo 1A protini (ebizwa ngokuba SMC1A gene), kunye ityala omnye uphawulwe yemfuza iiproteni chromosome ekuthiwa gene SMC3. Noko ke, ngoonobangela ukuziguqula gene ukanti kweqonga yemibono yeengcinga.

Kukholelwa ukuba bangenwe ekhulelwe, ingakumbi ngexesha ekhulelwe, amanye amachiza, ukuguga uyise womntwana okanye ubudala koomama kwama-35 eminyaka, kwakunye imitshato phakathi kwezihlobo.

Kodwa akukho nanye yezi zizathu ayikho ezithile, kunye ne-100% ibangela utshintsho yemfuza.

Enye ingcamango libalwa ukuba cornelia de Lange syndrome esizalwa, kodwa ngaphezu kwesiqingatha izigulane sifunde esi sifo wabonakala manqaphanqapha, okokuqala elugqatsweni.

Cornelia de Lange Syndrome wezulu

Kukholelwa ukuba esi sifo kunqabile kakhulu. data Uniform, kukuphinda-phinda kokuba kwenzeke, akukho. Eminye imithombo bathi umntwana lokugula-10 000 ziphila, abanye ukuba omnye kwi-100 000, kunye nabanye zibizwa ngokuba amanani ezahlukeneyo kweli banga. Ukuba ucinga ngayo, ukuba akukho kangako. Ngokutsho manani yonke imihla emhlabeni wazalwa iintsana malunga 370 lamawaka. Oko kukuthi, ukuba uthatha nkqu amanani asezantsi, yonke imini wazalwa ngabantu 4 abafunyenwe cornelia de Lange Syndrome.

Indlela abantu abaninzi abanjalo ubomi, oko kuxhomekeke kwizinto ezininzi, ezo iqondo ezingaqhelekanga omzimba lwangaphakathi, ozibonayo ngexesha nomgangatho neziphumo zonyango ezinikezelwa. Ukuba umntwana wakho ngezifo ngamalungu angaphakathi zingaphawulwa ubomi, yena ofela ngenyanga yokuqala emva kokuzalwa. Ukuba ezingaqhelekanga amalungu zangaphakathi ezincinane okanye umntwana ngexesha wenziwa utyando, xesha ebomini kunokuba kakhulu elide. Zimbi nentekelelo yinto yokuba umzimba izigulane de Lange syndrome akanako ukunika ukumelana kakhulu sisifo eqhelekileyo, umz wentsholongwane egazini, yaye kunzima ukulwa nabo.

unyango

wababhali yaye imithombo babanga ukuba akukho ndlela ukunyangeka umntwana sinesifo cornelia de Lange syndrome. Unyango liye lancitshiswa Iinkqubo zotyando (xa kukho iimpawu ezibonisa), ukuthatha neevithamini, nootropics (ukusebenza ngomhla nokusebenza kwengqondo), steroid, ebambe umthomalalisi. Noko ke, kweli xesha lethu kobugcisa ephakamileyo kunokuba ukuba ukoyisa ngokupheleleyo ukugula, ukuba kakhulu ukunciphisa ukubonakaliswa kwayo. Kufuna ukukholelwa impumelelo, umonde angaphaya kunye nemali, kuba unyango imali eninzi. Nazi abafowunelwa ze ezikliniki kunye namaziko ezibanjiswe ukunceda:

1. Kiev. "Inyaniso" Scientific and Centre Methodological, ibekwe endaweni yokubutha kwamadoda Williams, ukwakha inani 4. Phone: + 38-044-467-63-89 + 38-095-068-30-74. Apha sisebenza indlela Ulyany Luschik, kukho ezininzi i ingxelo entle.

2. Moscow, Solntsevo. Centre Scientific and Practical ibekwe esitratweni labaqhubi, ukwakha inani 38. Phone: + 7-495-934-17-53, + 7-495-934-27-10, + 7-495-934-14-39. Kukho ukubuyekeza ezininzi ukuba abantwana kunye syndrome de Lange emva unyango kweli ziko iba ngcono kakhulu.

3. amaSirayeli. Centre biocorrection kubo. (Iindleko zonyango kwi-10 amawaka ngo-. E.) Vasilyeva. Phone: 972-352-333-89.

Xa abantwana unesifo "cornelia de Lange Syndrome" kweminyaka yokuphila ixhomekeke kakhulu inyameko nokuzincama abantu zabo zomthonyama, ngenxa yokuba ukuzibandakanya kunye nezigulane ezinjalo kufuneka phantse yonke ngomzuzu. Amaxesha amaninzi iphumelele iziphumo ezintle zonyango zancitshiswa okanye wayicola zero, ukuba uyayeka unyango, okanye kuba nje kukho likakade.

Ingxelo evela kubazali, iziphumo HIV kunyango yabantwana babo ukubonelela kinesitherapy, inkqubo kwisimo ekhethekileyo ukudada dolphins kwi Dolphinarium, bioritmokorrektsiya, aromatherapy, iiklasi umculo, unyango ukukhanya.

ukuvimbela

Kunzima ukuthetha malunga amanyathelo othintelo zesi sifo, oonobangela apho ayaziwa. Xa sijonga izinto kuzinza kunokubangela imizila kwinqanaba yemfuza, kusenokuba kuhle:

- ukuthintela ukukhulelwa kwabantwana zizalamane igazi;

- uqaphele mvanje ngumama nokuba ngubaba;

- ngexa lokukhulelwa, ingakumbi ngexesha kwiinyanga zokuqala, ukuze athathe onke amanyathelo ukuphepha amagciwane, kwaye xa lokugula ukuthatha amayeza kuphela emva kokudibana nogqirha wakho.

Ngokusekelwe izifundo izigulane kunye syndrome ngoogqirha cornelia de Lange badla ukukholelwa ukuba kwintsapho inye kwakhona azalwe umntwana lokugula-2% yamatyala, yaye kwezo ntsapho apho uyise nokuba ngunina, kukho iimpawu ezithile syndrome de Lange, umntwana lizalwa ngo-25% yamatyala. Ngoko ke, bonke abafazi basengozini kufuneka kufumana olunzulu isigulo siswini, ingakumbi ukukhangela protein serum PAPP. Ukuba akunjalo, kukho amathuba eliphezulu kakhulu ukuba usana kunye cornelia de Lange syndrome.