Cornelia de A Lange syndrome: chithunzi, zimayambitsa, zizindikiro, matenda, madokotala ananena zawo, moyo amayembekezeka, chithandizo

Ambiri sukulu zamoyo maphunziro kumbukirani kuti mudziwe majini imafalikira kwa atate kwa ana awo, ndi mu matupi a anthu tichipeza awiriawiri 23 DNA. Lili pafupi 28,000 chibadwa, omwe imathandiza kwambiri mu mapangidwe thupi. kusintha Mutational mmodzi wa iwo kungakhale Cornelia de A Lange syndrome, ndi zosasangalatsa kwambiri, ndipo nthawi zambiri ndi ndithu matenda, zimayambitsa imfa. Olemba ambiri amanena kuti amene akudwala matenda ichi alibe mwayi. Koma musataye mtima, chifukwa sayansi yamakono ndi mankhwala kulenga zozizwitsa weniweni.

The etymology dzina la

Cornelia de A Lange syndrome unatchedwa monga iye kulongosola mwatsatanetsatane dokotala amatchedwa Cornelia de A Lange, mu 30s zaka mazana makumi awiri amene amakhala ndi kugwira ntchito mu Netherlands. Iye ali kuchita ataona 5 Zikatero, nthawi yotsiriza atsikana awiri okha amene sanali achibale. Mu 1933, Korneliyo anatenga nkhani komanso mapeto a kuzipenya wake. Koma kale kwambiri (mu 1916) ndi nthenda yomweyo matenda komanso anafotokoza mwatsatanetsatane German dokotala W. Brahman, kotero iwo amagwiritsa ntchito dzina la syndrome Brahman - Lange. Komanso, dzina wamba za matenda a Amsterdam, monga mzinda wolembedwa ana atatu okha, amene anali kudwala izi. Onse maina atatu - ndi chimodzi ndi matenda omwewo. Umapezeka pa paliponse, anthu a mafuko onse, ndi mitundu, ndi pafupipafupi ofanana anyamata ndi atsikana omwe. Pafupifupi zaka zana kuchokera kufotokoza woyamba, tinkaphunzira mwatsatanetsatane milandu 400 matenda.

Anomalies khungu ndi khungu

syndrome Cornelia de A Lange akhoza amaganiziridwa pa mphindi zoyambirira za moyo mwana. Zizindikiro zikuluzikulu:

1. kulemera Low kubadwa (pafupifupi 2/3 ntchito bwinobwino).

2. Anomalies a Chigaza ndi:

- microcephaly (chigaza pafupifupi 10% zochepa kuposa masiku (98% odwala);

- brachycephaly (kuwonjezeka mu gawo yopingasa (m'lifupi) a chigaza wachibale miyeso yake kotenga);

- kuchepetsa ubongo mutu.

Anthu oposa theka la makanda anaona kuchuluka pilosity mmbuyo, ndipo nthawi zina thupi lonse. Khungu la makanda pafupifupi 2/3 cyanotic chitsanzo ndi ziwiya wabwino zosanjidwa zongowoneka ngati (marbling wa khungu), koma chizindikiro ichi si zovuta matenda a matenda.

anomalies nkhope

Zopindika pa nkhope ya ana akhanda ndi muyezo kwambiri chakuya matenda Cornelia de A Lange Syndrome. Photo mwana pamwamba limasonyeza izi. A zopatuka malamulo analandira ndi:

- bwino chimatanthauza nsidze kukopedwa, converging pa mlatho (99% milandu);

- wokongola, yaitali akulankhula mokalipa, nthawi zambiri recurved (99%);

- ang'ono mphuno, amene mphuno protrude patsogolo (88%);

- waukulu ndi olowa m'mphuno mlatho (88%);

- kamwa ndi ngodya adatchithisira (94%);

- mtunda unconventionally lalikulu pakati pa mphuno ndi milomo;

- otsika-akonzedwa makutu;

- hypoplasia (hypoplasia) la nsagwada m'munsi (84%);

- otsika kwambiri ili pa mphumi ndi / kapena nape ya malire a tsitsi (94%).

The zolakwika pamwamba pa nkhope ya mwana akhoza kupezeka onse kapena ochepa.

Anomalies ziwalo mkati

Hypoplasia (underdevelopment), ndi zisokonezo pathological mu mapangidwe ziwalo mkati ndi kuopsa kwambiri miyoyo ya ana kuti akhala kuzindikiridwa syndrome Cornelia de A Lange. Matendawa zikuphatikizapo Kujambula, X-ray, ultrasound, rhinoscopy, kusanthula cytogenetic ndi njira zina zamakono.

Mu matenda zingaoneke:

- choanal atresia, kapena kuposa chabe, kutsekeka kwa m'mphuno (kudwala ili mwamtheradi osalumikidwa ndi matenda de A Lange ndi mosavuta matenda ndi mmene mwana kupuma kapena kudzera mwa kafukufuku);

- zopindika kapangidwe ka mtima (mtima malformations, mavavu, kakasi);

- matenda m'mimba (cecum makina, ena);

- zopindika a dongosolo urogenital (pafupifupi 50% odwala);

- cysts pa impso, hydronephrosis;

- kudwala mu ubongo minofu (convolutions dysplasia, aplasia wa ku corpus callosum ndi ena);

- mopambanitsa kapena abadwe;

- cryptorchidism.

Kachiwiri, sikuti ndi mwana odwala ankapita onse ziwonongeke pamwamba ziwalo mkati.

Anomalies a dongosolo minofu ndi mafupa

Neonates angakhale nthambi zopindika, msana, thorax, chomwenso ndi anapezeka ndi Cornelia de A Lange Syndrome (zithunzi za anthu ndi matenda anapereka m'nkhani).

Ena zopindika akalipo yomweyo. Ali:

- kusapezeka kwa zala kapena zambiri;

- zinaphatikizidwa zala (kawirikawiri pa miyendo);

- olumala msana ndi / kapena chifuwa.

Ndi mwana kukula kukhala zolakwika kwambiri ndithu zotsatirazi:

- kukula retardation (zina, dwarfism);

- hypoplasia, nthambi kufupikitsa;

- manja ang'ono ndi mapazi;

- chachifupi kwambiri khosi;

- kuchepetsa mphamvu ya chigongono unakhota, unbend (contracture).

kuvutika ubongo ndi matenda a ziwalo mphamvu

Mwatsoka, pali mavuto ena ambiri ana amene anapezeka ndi "matenda Cornelia de A Lange." Zizindikiro kugwirizana ndi chikhalidwe ubongo wa mwana, zikhoza kukhala:

- akhanda akuyamwitsa listlessly, kawirikawiri kusanza;

- kuyenda otsika ndi zolimbitsa thupi;

- minofu hypotonia (minofu kamvekedwe ndi adatchithisira, palibe mphamvu mu manja ndi mapazi);

- pa nthawi yatsoka a khunyu.

Ana ndi matenda de A Lange ndi mavuto ndi kumva, kuona ndi kulankhula. Ambiri a iwo kulankhula pang'ono kapena palibe mu m'badwo uliwonse. Makolo dziwani kuti ambiri mwa ana kufotokoza zilakolako zawo manja. Masomphenya ndi mavuto amenewa:

- strabismus;

- myopia;

- astigmatism;

- manja kwa mitsempha chamawonedwe.

kukula m'nzeru

Cornelia de A Lange syndrome kuwonjezera zonse zosokonezeka zina thanzi kuchititsa retardation maganizo, zomwe chikondwerero pafupifupi mwana wodwala, ndi 80% milandu amapezeka imbecility kapena debility. Komabe, pali ana ndi de A Lange Syndrome amene amapezeka zamkaka zonse ndi sukulu. Izo zimatengera chimene mitundu iwiri ya matenda matenda. The woyamba amatchedwa tingachipeze powerenga, mmene muli zinthu zosiyanasiyana mu mapangidwe ndi ntchito za m'mimba, kuvutika kunja ndi kutchulidwa retardation maganizo. Mawonekedwe kachiwiri conventionally otchedwa afewetsedwa. Pamene anaona ena kuvutika kunja, pali mavuto ena ndi ziwalo, koma kukula m'nzeru akuchedwa malire.

Monga makolo lipoti ana ndi matenda de A Lange pa msinkhu wina uliwonse, sindikupempha chimbudzi, nthawi zambiri sachedwa kukhumudwa mukufuna kuchita zosiyanasiyana njira zina zachilendo wathanzi ana: mowirikiza kugwetsera pepala, iye, kukawononga chirichonse chimene kugwa m'manja mwawo, nthawi zonse kusamukira ku bwalo . Zimenezi ndi ana ngati iwo bata.

Zimayambitsa matenda

Panapita pafupifupi zaka zana kuchokera pamene izo anafotokozedwa koyamba syndrome Cornelia de A Lange. The zimayambitsa matenda panthawi ife tinapeza. Awa masinthidwe chibadwa. Chiwerengero chachikulu kwambiri milandu olembedwa masinthidwe asakhale ndi vutoli 5, yeniyeni mu NIPBL jini, limene lili mu phewa lake, "p." A ochepa a matendawa de A Lange analembedwa anthu ndi kusintha kwa DNA 1a mapuloteni (otchedwa SMC1A jini), ndi chitsanzo chimodzi ikusonyezedwa ndi kusintha mu mapuloteni khromozomu otchedwa jini SMC3. Komabe, zimayambitsa masinthidwe izi jini adakali siteji ya ziphunzitso ndi malingaliro.

Amakhulupirira kuti angathe kuyambitsa matenda mimba, makamaka pa trimester, mankhwala ena, ukalamba bambo wa mwanayo kapena zaka akuchikazi zaka zoposa 35, komanso mabanja pachibale.

Koma palibe zifukwa izi si zina, ndi 100% amachititsa kusintha chibadwa.

kungoganizira lina ntchito kuti Cornelia de A Lange syndrome ali wobadwa nawo, koma oposa theka la odwala anaphunzira matenda anaonekera sporadically, kwa nthawi yoyamba mu mpikisano.

Cornelia de A Lange Syndrome Mapa

Akukhulupirira kuti matenda alipo ochepa. deta yunifolomu, pafupipafupi ndi kumachitika, palibe. Magwero ena amati mwana wodwala 10 000 kubereka moyo, ena kuti wina pa 100 000, ndipo ena amatchedwa manambala osiyanasiyana osiyanasiyana izi. Ngati inu mukuganiza chiyani za izo, si choncho pang'ono. Malinga ndi kafukufuku tsiku lililonse padziko lapansi anabadwa ana pafupifupi 370 zikwi. Ndiko kuti, ngati inu kutenga ngakhale ziwerengero wotsikitsitsa, tsiku lililonse wabadwa za anthu 4 amene amapezeka Cornelia de A Lange Syndrome.

Kodi anthu otere ambiri moyo, izo zimatengera zinthu zambiri, umene ndi digiri ya kuvutika mkati limba, kudziwika awo yake ndi khalidwe la akuti zotsatira zachipatala. Ngati mwana wanu ali kudwala a ziwalo atakwatirana ndi moyo, akufa mu mwezi woyamba atabadwa. Ngati kuvutika ziwalo mkati amakhala aang'ono kapena mwana pa nthawi anapangidwa opaleshoni, nthawi ya moyo kungakhale yaitali ndithu. Kuwonjezera pa vuto kuneneratu chifukwa chakuti thupi la odwala matenda de A Lange sangathe kupereka kukana amphamvu matenda ochiritsira, mwachitsanzo tizilombo, ndi kovuta kumenyana nawo.

chithandizo

Olemba ambiri mabuku amanena kuti palibe njira kuti achiritse mwana amene amawapeza syndrome Cornelia de A Lange. Chithandizo yafupika popanga munthu opaleshoni (ngati pali zizindikiro), kutenga mavitamini, nootropics (zochitika pa ubongo), anabolic mankhwala, atagwira sedation. Komabe, nthawi luso wamkulu angathe kukhala ngati si kwathunthu kugonjetsa matendawo, kuti kuchepetsa mawonetseredwe ake. Pamafunika chikhulupiriro bwino, zoposa chipiriro ndi ndalama, chifukwa chakuti mankhwala okwera mtengo. Nawa kulankhula za zipatala ndi malo amene atengedwa kuthandiza:

1. Kiev. Scientific ndi Methodological Center "Choonadi" ili mu msewu wa Williams, kumanga chiwerengero 4. Phone: + 38-044-467-63-89 + 38-095-068-30-74. Apa ntchito pa njira Ulyany Luschik, pali zambiri maganizo abwino.

2. Moscow, Solntsevo. Center Scientific ndi Lothandiza ili pa msewu wa oyendetsa, kumanga nambala 38. Phone: + 7-495-934-17-53, + 7-495-934-27-10, + 7-495-934-14-39. Pali ndemanga zambiri kuti ana ndi matenda de A Lange mankhwala pa malo amakhala bwino kwambiri.

3. Israel. Center biocorrection iwo. (Ndalama chithandizo kwa 10 zikwi. E.) Vasilyeva. Phone: 972-352-333-89.

Ana ndi matenda a "Cornelia de A Lange Syndrome" moyo amayembekezeka mwachuluka amadalira chisamaliro chosadzikonda cha anthu a kwawo, chifukwa kuchita ndi odwala amenewo sayenela pafupifupi mphindi iliyonse. Nthawi zambiri akwaniritsa zabwino mankhwala ndi kuchepetsedwa kapena kusanduka ziro, ngati mwasiya mankhwala, kapenanso chifukwa chakuti pali kumwa.

Feedback kwa makolo, zotsatira zabwino mu mankhwala a ana awo amapereka kinesitherapy, wapadera kukhazikitsa ndondomeko kusambira ndi anamgumiwa mu Dolphinarium, bioritmokorrektsiya, aromatherapy, makalasi music, kuwala mankhwala.

kupewa

N'zovuta kulankhula za miyeso njira ya matenda, zimayambitsa omwe sakudziwika. Popeza zinthu anakhazikitsa kuti zikhoza masinthidwe mlingo chibadwa, kungakhale bwino:

- kuteteza pakati ana ndi abale magazi;

- kukhala osamala mayi mochedwa ndi bambo;

- woyembekezera, makamaka pa miyezi woyamba, kukhwimitsa onse kupewa matenda tizilombo, ndipo mu mwambo matenda kumwa mankhwala yekha atakambilana ndi dokotala.

Pamaziko a maphunziro a odwala ndi matenda a Cornelia de A Lange madokotala amakonda timakhulupirira kuti mu banja limodzi akhonza anabadwa mwana wodwala 2% milandu, ndi mabanja awo pamene bambo kapena mayi pali zizindikiro za matenda de A Lange, mwana wodwala akhoza kubadwa 25% ya milandu. Choncho, akazi onse ali pa chiopsezo adzilandira mozama matenda akalandire chithandizo, makamaka Yang'anani seramu PAPP mapuloteni. Ngati ayi, pali Mwina kwambiri kubereka mwana ndi matenda Cornelia de A Lange.