Cornelia de Lange syndrome: isithombe, izimbangela, izimpawu, uphethwe, onalesi sifo, ubude bempilo, ukwelashwa

izifundo eziningi esikoleni biology khumbula ukuthi ukwaziswa kwezakhi zofuzo sisuka uyise wezingane zabo, ungaphakathi okusha ngezakhi zofuzo zomuntu siqukethe 23 ngazimbili lezakhi zofuzo. Iqukethe mayelana 28.000 ufuzo, ngalinye elikwazi linendima ebalulekile ekwakhiweni komzimba womuntu. izinguquko Mutational kuphela omunye wabo kungaba avuse Cornelia de Lange syndrome, kubuhlungu ngempela, futhi ezimweni eziningi futhi ngempela isifo esingathí sina, ngokuvamile okuholela ekufeni. abalobi abaningi bathi labo abaphethwe yilesi sifo abanandlela. Nokho ungalilahli ithemba, ngoba isayensi yesimanje kanye imithi ukudala izimangaliso zangempela.

I etymology kwegama

Cornelia de Lange syndrome yethiwa kuye ukuyichaza ngokuningiliziwe wezingane ngokuthi Cornelia de Lange, kule 30s yekhulu lamashumi amabili owayehlala futhi esebenzela e-Netherlands. Ungishiya practice naye bebona 5 Ezimweni ezinjalo, ngesikhathi sokugcina ezimbili nje amantombazane ababengebona izihlobo. Ngo-1933, uKorneliyu wathatha incazelo eningiliziwe nesokuphela kwalesi imibono yakhe. Kodwa ngisemncane kakhulu (ngo-1916) kuba isifo esifanayo ukuhlolelwa lesi sifo futhi zichazwe ngokuningiliziwe udokotela German W. uBrahman, ngakho ayevame ukusebenzisa igama uBrahman syndrome - Lange. Ngaphezu kwalokho, igama elivamile sifo Amsterdam, wafika emzini eqoshiwe izingane ezintathu nje, ababetholakala lokhu egunjini lokuhlolwa kwezifo. Zonke amagama amathathu - ungomunye futhi sona lesi sifo. Litholakala wonke amazwekazi, abantu bazo zonke izinhlanga nezinhlanga, nge imvamisa efanayo kokubili abafana namantombazane ngokufanayo. Kwaphela cishe iminyaka eyikhulu kusukela incazelo yokuqala, sasifunda ngokuningiliziwe izimo 400 yalesi sifo.

Anomalies ekhanda futhi isikhumba

Cornelia de Lange syndrome zingase zixwaywe kusukela imizuzu yokuqala yokuphila ingane. izimpawu Primary:

1. lokuzalwa okuphansi isisindo (cishe 2/3 of evamile).

2. anomalies Yekhanda:

- microcephaly (skull cishe 10% uma kuqhathaniswa nangonyaka evamile (98% eziguli);

- brachycephaly (ukwanda nobukhulu transverse (ububanzi) isihlobo skull ukuze Ubukhulu bayo longitudinal);

- ukunciphisa zobuchopho ekhanda.

Isibalo esingaphezulu kwengxenye izinsana yathi pilosity anda emuva, futhi ngezinye izikhathi yonke umzimba. Isikhumba izinsana cishe 2/3 iphethini cyanotic ngezitsha ezinhle ibukwe (marbling kwesikhumba), kodwa lokhu uphawu akuyona esibucayi sitholakele lesi sifo.

anomalies ebusweni

Ukuphazamiseka kwekhono ebusweni ngayo lapho usana kukhona nenqubo edlidlizelayo ukuxilonga Cornelia de Lange Syndrome. Photo ingane ngenhla kubonisa ngokucacile lokhu. A ukuphambuka kusuka kwezinkambiso wamukela yilezi:

- achazwe kahle njengoba amashiya basondela, bebuthanela ibhuloho (99% amacala);

- enhle, nemivimbo engu eside, ngokuvamile recurved (99%);

- ekhaleni ezincane, okuyinto ekhaleni aphume ashone phambili (88%);

- ezibanzi lushone ibhuloho acinene (88%);

- nomlomo emakhoneni eyehlisiwe (94%);

- ibanga unconventionally ezinkulu phakathi ikhala nezindebe;

- ongaphakeme-isethi izindlebe;

- hypoplasia (hypoplasia) ka umhlathi ongezansi (84%);

- eliphansi kakhulu itholakala emabunzini kanye / noma nape komngcele izinwele (94%).

Lokuchezuka ngenhla ebusweni kuzalwa bangeza bonke noma may ezimbalwa kuphela.

Anomalies kwezitho zangaphakathi

Hypoplasia (nokungathuthuki), neziyaluyalu sokugembula kwetinhlavu kwezitho zangaphakathi kukhona ingozi enkulu ezimpilweni zezingane ezikhonjwe Cornelia de Lange syndrome. Sifo kuhlanganisa MRI, X-ray, i-ultrasound, rhinoscopy, ukuhlaziywa cytogenetic nezinye amasu esimanje.

Kulesi isifo kungenziwa waphawula:

- choanal atresia, noma ngaphezulu nje, ukuvimbela ngalo ingaphakathi acinene (lokhu zokugula is ngokuphelele engahlangene de Lange syndrome ne kalula ngomshini kanjani ingane ukuphefumula noma esebenzisa i-probe);

- yokulimala isakhiwo inhliziyo (semithambo kombungu, ama-valve, lumangaza);

- nezifo zesisu (cecum ezithathekayo, abanye);

- zamehlo uhlelo urogenital (cishe 50% eziguli);

- izinhlumba izinso, hydronephrosis;

- zokugula kwezicubu ubuchopho (dysplasia convolutions, aplasia of the callosum Corpus nabanye);

- eliphezulu kakhulu noma ulwanga emfantwini;

- cryptorchidism.

Nalapha futhi, hhayi ngempela ukuba abe ingane egulayo ukuwo wonke ukukhubazeka ngenhla kwezitho zangaphakathi.

Anomalies of the system zemisipha

Neonates kungaba esitho ukukhubazeka, emgogodleni, thorax, okuyilona elisebenzayo futhi kwatholakala ukuthi nginesifo Cornelia de Lange Syndrome (izithombe zabantu abanalesi sifo ethulwa esihlokweni).

Ezinye ukukhubazeka zibonakala ngokushesha. Ziyakwazi:

- ukungabi eyodwa noma ngaphezulu iminwe;

- iminwe tho (ngokuvamile atholakala phezu imilenze);

- emgogodleni zikhubazekile kanye / noma esifubeni.

Nge ingane ekhula ekubeni ngeziphambeko ngempela ebalulekile elandelayo:

- ukukhula retardation (kwezinye izimo, kukobana iba yifitjhani khulu);

- hypoplasia, esitho kokunciphisa;

- ibe nezandla nezinyawo ezincane;

- intamo lifushane kakhulu;

- nomkhawulo ikhono indololwane goba, unbend (contracture).

kwezinso nezifo kwezitho umqondo kwemizwa

Ngeshwa, zikhona nezinye izinkinga eziningi ezihlupha izingane uxilongwe "Cornelia de Lange syndrome." Izimpawu ezihambisana nesimo esithinta izinzwa wengane, kungaba:

- izinsana ncela babe, ngokuvamile uhlanze;

- Ukuhamba ongaphakeme futhi umsebenzi ngokomzimba;

- imisipha hypotonia (imisipha ithoni lehliselwa, akukho amandla ezandleni nasezinyaweni);

- okuvela zesikhathi nokuquleka.

Izingane sifo de Lange unezinkinga ukuzwa, babone futhi bakhulume. Abaningi babo ukukhuluma ithi esincane noma abangenaso nhlobo ibuphi ubudala. Abazali uqaphele ukuthi iningi izingane ukuveza izifiso zabo ukuthintwa. Vision zingabantu izinkinga ezifana:

- strabismus;

- myopia;

- astigmatism;

- yoma we emsipheni optic.

ekukhuleni

Cornelia de Lange sifo ngo ngaphezu kwawo wonke amanye izinkinga zempilo okubangela retardation engqondo, okuyinto kugujwa cishe njalo ingane egulayo, futhi u-80% amacala okutholakala ukuthi banesifo sochoko imbecility noma debility. Nokho, zikhona izingane nge de Lange Syndrome ababa khona preschools njalo nezikole. Kuya ngekutsi umuntfu amafomu amabili lesi sifo sitholakale. Eyokuqala libizwa yakudala, lapho kunezinhlobonhlobo kwetinhlavu kanye nokusebenza kwezitho zangaphakathi, kwezinso yangaphandle futhi wamemezela retardation engqondo. Ifomu wesibili evamile ngokuthi nivame. Lapho-ke waphawula kwezinso ezithile zangaphandle, zikhona ezinye izinkinga zangaphakathi, kodwa ekukhuleni ngokwengqondo ukubambezeleka umngcele.

Njengoba abazali ukubika izingane sifo de Lange ngasiphi yobudala, ungaceli ethoyilethi, ngokuvamile othambekele ukucasuka ukuzenza ezihlukahlukene engavamile izingane izinyathelo enempilo: njalo adwengule iphepha, abanaye, ukubhidliza yonke into ewela ezandleni zabo, sonke isikhathi ukuhambisa kumbuthano . izenzo ezinjalo abantwana abafana nabo ezolile.

Izimbangela zesifo

Kwathatha iminyaka engu-ababalelwa ekhulwini kusukela esikhathini lapho kuqala esachazwa Cornelia de Lange syndrome. Izimbangela zesifo ngaleso sikhathi sathola. Lawa ukuguquka kwezakhi zofuzo ezakhini zofuzo. Inani elikhulu izimo ezilotshwe ukuguquka kwezakhi zofuzo e-chromosome 5, ngokunembile e NIPBL isakhi sofuzo, esemgwaqweni ehlombe, "p." Inani elincane lama-sifo de Lange ezilotshwe abantu kuguquka wama-chromosomes 1A amaprotheni (okuthiwa SMC1A zofuzo), futhi omunye uma ephawulwe nge ngokuguqula izakhi zofuzo-chromosome amaprotheni abizwa ngokuthi ama isakhi sofuzo SMC3. Nokho, izimbangela zezinkumbulo lezi ukuguquka kwezakhi zofuzo isakhi sofuzo zisengaphansi esigabeni mbono nemibono.

Kukholakala ukuthi kungabangela izifo ekukhulelweni, ikakhulukazi ngesikhathi senyanga yokuqala, abanye izidakamizwa, ukuguga ubaba wengane noma engu komama engaphezu kwengu-35, kanye imishado izihlobo.

Kodwa ayikho neyodwa kulezi zizathu akuqinisekwa, futhi 100% kubangela izinguquko zofuzo.

Omunye umbono is wasebenza ukuthi Cornelia de Lange sifo njengefa, kodwa ngaphezu kwesigamu iziguli wafunda lesi sifo bavele babeyivakashela ngankathi, ngokokuqala ngqa kulo mncintiswano.

Cornelia de Lange Syndrome Isibikezelo

Kukholakala ukuthi lesi sifo ivelakancane. idatha Uniform, imvamisa lapho kwenzeka, akukho. Eminye imithombo zithi ingane egulayo-10 000 ezizalwa ziphila, abanye godu bathi omunye 100 000, kanti amanye okuthiwa izinombolo ezahlukene kuleli banga. Uma ucabanga ngakho, akusiwona kancane ngakho. Ngokwezibalo nsukuzonke hlaba okuzelwe izingane angaba yizinkulungwane 370. Okusho ukuthi, uma uthatha ngisho izibalo aphansi, nsuku zonke okuzelwe ngabantu 4 ngubani uxilongwe Cornelia de Lange Syndrome.

Bangaki abantu abanjalo bahlala, ke kuncike ezintweni eziningi, okuyizinto ezibalulekile degree of yangaphakathi isitho kwezinso, ukuthola kwabo ngesikhathi esifanele kanye nekhwalithi imiphumela yezokwelapha elihunyushwe. Uma ingane yakho ine-pathology yezitho zangaphakathi aluhambisani nawo ekuphileni, sifa ngenyanga yokuqala emva kokuzalwa. Uma kwezinso kwezitho zangaphakathi zincane noma ingane ngesikhathi kwenziwa ukuhlinzwa, inkathi yokuphila isikhathi eside kakhulu. Okushubisa isibikezelo iqiniso lokuthi umzimba kweziguli de Lange syndrome akakwazi ukumelana namandla nezifo ezivamile, isb viral, futhi nzima elwa nabo.

ukwelashwa

Iningi futhi imithombo zithi ayikho indlela ukwelapha ingane sitholakale Cornelia de Lange syndrome. Ukwelashwa kuyehla kube nezinqubo kuhlinzwa (uma kunezinkomba zokuthi), ngokuthatha amavithamini, nootropics (nomthelela ekusebenzeni kobuchopho), ama steroid, ubambe ukupholisa. Nokho, esikhathini sethu ubuchwepheshe ophakeme kungaba uma ukunqoba ukugula ngokuphelele, ukuthi kakhulu ukunciphisa ukubonakaliswa yayo. Kudingeka ukukholelwa impumelelo, isineke imali angaphezu kwawabantu, ngoba impatho kuyabiza. Nazi oxhumana kwemitholampilo izikhungo ezithathwayo ukusiza:

1. Kiev. "Iqiniso" Scientific kanye methodological Center esemgwaqweni ezitaladini Williams, ukwakha inombolo 4. Ucingo: + 38-044-467-63-89 + 38-095-068-30-74. Lapha sisebenza indlela Ulyany Luschik, kukhona okuningi okubuyayo.

2. Moscow, Solntsevo. Centre Scientific Futhi Liyasebenza esisogwini esitaladini Bashayeli, ukwakha inombolo 38. Ifoni: + 7-495-934-17-53, + 7-495-934-27-10, + 7-495-934-14-39. Kukhona Izibuyekezo eziningi izingane sifo de Lange emva kokwelashwa ngalesi sikhungo iba ngcono kakhulu.

3. U-Israyeli. Centre biocorrection kubo. (Izindleko ukwelashwa 10 lamawaka. E.) Vasilyeva. Ifoni: 972-352-333-89.

Ezinganeni kwathiwa unesifo "Cornelia de Lange Syndrome" bempilo incike ukunakekelwa ongenabugovu zabantu lwabo lwendabuko, ngoba ukubandakanya iziguli ezinjalo kudingeka cishe njalo ngomzuzu. Imiphumela Isikhathi esining impela izuzwe omuhle yokuphathwa ziyancipha noma sehliselwe zero, uma uyeka ukwelashwa, noma ngoba nje kukhona uba ukubuyela ngokuphelele ekubhemeni.

Impendulo kusuka kubazali, imiphumela emihle ekwelapheni izingane zabo ahlinzeke kinesitherapy, Uhlelo lokuhlumelelisa olukhethekile ebhukuda amahlengethwa akule Dolphinarium, bioritmokorrektsiya, aromatherapy umculo amakilasi, Ukwelapha ngokukhanya.

zokuvimbela

Kunzima ukukhuluma mayelana izinyathelo zokuvimbela lesi sifo, izimbangela zazo akwaziwa. Banikezwe izici esungulwe ezingase kuguqulwe izakhi zofuzo e ezakhini zofuzo, kungase kube ukuhlakanipha:

- ukuvimbela ukukhulelwa kwezingane yizihlobo igazi;

- uqaphele ngumama ngasekupheleni nokuba ngubaba;

- ngesikhathi sokukhulelwa, ikakhulukazi phakathi nezinyanga zokuqala, ukuthatha zonke izinyathelo zokugwema izifo ezibangelwa amagciwane, futhi uma kwenzeka lokugula ukuthatha imithi kuphela emva kokubonisana udokotela wakho.

Ngesisekelo izifundo iziguli lesi sifo ka Cornelia de Lange odokotela bavame ukuba bakholelwe ukuthi ngo-omkhaya owodwa kungenziwa kabusha ozalwa ingane ogulayo 2% izimo, futhi leyo mikhaya lapho ubaba noma umama, zikhona izimpawu ezithile sifo de Lange, angazalwa umntwana ogulayo e-25% amacala. Ngakho-ke, bonke abesifazane basengozini kufanele zithole imfundo ejulile ukuxilongwa okufanele kwangaphambi kokubeletha, ngokukhethekile ukuze uhlole serum PAPP amaprotheni. Uma kungenjalo, kukhona awokuthi kakhulu ukuba nomntwana nge Cornelia de Lange syndrome.