Cornelia de Lange ciwo: photo, haddasawa, cututtuka, ganewar asali, hangen nesa, rayuwa Hasashen, magani

Mutane da yawa makaranta ilmin halitta darussa tuna cewa kwayoyin bayanai da aka ruwaito daga uba zuwa ga uwar 'ya'yansu, shi ne a cikin mutum genome kunshi 23 nau'i-nau'i daga chromosomes. Ya ƙunshi game da 28,000 kwayoyin halitta, kowanne daga abin da taka wata muhimmiyar rawa a cikin samuwar na jikin mutum. Mutational canje-canje kawai daya daga su iya tsokana Cornelia de Lange ciwo, wani sosai m, kuma a mafi yawan lokuta, kuma quite wani tsanani cuta, sau da yawa abu don mutuwa. Mawallafa, da dama jayayya da cewa wadanda fama da wannan ciwo da wani damar. Amma duk da haka kada ka yi baƙin, saboda kimiyyar zamani da kuma magani don ƙirƙirar real al'ajiban.

A etymology na sunan

Cornelia de Lange ciwo da aka mai suna bayan shi zuwa cikakken bayani da pediatrician kira Cornelia de Lange, a cikin 30s karni na ashirin da suka rayu da aiki a Netherlands. Ta ke a cikin ta yi lura 5 irin haka ne, na karshe lokaci kawai 'yan mata biyu da suke ba dangi. A shekara ta 1933, Cornelius dauki cikakken bayanin da ƙarshe ya lura. Amma da yawa a baya (a 1916) shi ne wannan cuta kamu da aka bayyana a cikin daki-daki Jamus likita W. Brahman, don haka su sau da yawa amfani da sunan Brahman ciwo - Lange. Bugu da kari, da na kowa sunan ciwo na Amsterdam, a matsayin birni rubuce kawai da 'ya'ya uku, wanda aka samu da wannan Pathology. All uku sunayen - ne wanda kuma wannan cuta. An samu kan kowane nahiyar, mutane daga dukan jinsuna da kabilu, tare da kama mita a duka biyu maza da mata daidai da juna. Domin kusan shekara ɗari tun da farko description, mu yi karatu a daki-daki, 400 lokuta da wannan cuta.

Anomalies fatar kan mutum da kuma fata

Cornelia de Lange ciwo iya zargin daga farko minti na rayuwa baby. Primary cututtuka:

1. Low haihuwa nauyi (kamar 2/3 na al'ada).

2. Anomalies na kwanyar:

- microcephaly (kwanyar kamar 10% kasa da al'ada (98% da marasa lafiya).

- brachycephaly (karuwa a mai gangara girma (fadin) na kwanyar dangi zuwa ta tsaye girma).

- rage daga cikin kwakwalwa na shugaban.

Fiye da rabin jarirai lura ƙãra pilosity baya, da kuma wani lokacin dukan jiki. A fata da jarirai ne kamar 2/3 cyanotic juna tare da mai kyau za a iya ganin tasoshin (marbling na fata), amma wannan alama ba m a cikin ganewar asali da wannan cuta.

fuska anomalies

Lahani a kan fuska da jariri ne mafi Tsayayyar sharudda don gane asali Cornelia de Lange Syndrome. Photo baby sama a fili ya nuna wannan. A karkacewa daga yarda norms ne:

- a tsare a matsayin kõma girare, dunbin a kan wata gada (99% na lokuta);

- kyau, dogon lashes, sau da yawa recurved (99%).

- kananan hanci, wanda hanci protrude gaba (88%).

- m da sunken hanci gada (88%).

- a bakinka tare da saukar da sasanninta (94%).

- unconventionally manyan nesa tsakanin hanci da lebe.

- low-sa kunnuwa.

- hypoplasia (hypoplasia) na ƙananan muƙamuƙi (84%).

- ma low aka located a goshin da kuma / ko nape na iyakar gashi (94%).

The sama sabawa a kan jariri ta fuskar iya halartar duk ko yiwu ne kawai 'yan.

Anomalies na ciki gabobin

Hypoplasia (underdevelopment), da kuma pathological disturbances a cikin samuwar kayan ciki su ne mafi girma da hadari ga rayuwar yara cewa an gano Cornelia de Lange ciwo. Ganewar asali hada MRI, X-ray, duban dan tayi, rhinoscopy, cytogenetic bincike da kuma sauran fasaha ta zamani.

A wannan cutar za a iya lura:

- choanal atresia, ko fiye kawai, toshewa na hanci kogo (wannan Pathology ne cikakken ba da alaka da de Lange ciwo da kuma sauƙi kamu da yadda jariri ne yana numfashi ko ta hanyar bincike).

- lahani a cikin tsarin da zuciya (jijiyoyin bugun gini malformations, bawuloli, baffles).

- gastrointestinal cuta (cecum m, wasu wasu);

- lahani na urogenital tsarin (kamar 50% da marasa lafiya).

- cysts a kan kodan, hydronephrosis.

- Pathology a kwakwalwa nama (dysplasia convolutions, aplasia na da tarin rubuce-rubuce callosum da sauransu).

- muni ko cleft palate.

- cryptorchidism.

Sake, ba dole ba ne a yi rashin lafiya yaro halarci duk na sama lahani na ciki gabobin.

Anomalies na musculoskeletal tsarin

Neonates iya zama reshe lahani, kashin baya, thorax, wanda kuma ya kamu da Cornelia de Lange ciwo (photos na mutane da cutar aka gabatar a cikin labarin).

Wasu lahani ne bayyane nan da nan. Su ne:

- babu daya ko fiye yatsunsu.

- Fused yatsunsu (yawanci samu a kan kafafu).

- maras kyau kashin baya da kuma / ko kirji.

Tare da jariri girma up zama quite gagarumin wadannan sabawa:

- girma retardation (a wasu lokuta, wada).

- hypoplasia, reshe rage.

- kananan hannuwansu da ƙafãfunsu.

- ma short wuyansa.

- iyakance ikon da gwiwar hannu lanƙwasa, unbend (contracture).

Neurological munanan da kuma cututtuka na ji gabobin

Abin baƙin ciki, akwai mutane da yawa da sauran matsaloli a yara suka kamu da "Cornelia de Lange ciwo." Alamun hade da neurological yanayin yaro, yana iya zama:

- jarirai tsotse listlessly, sau da yawa, AMAI.

- low motsi da kuma jiki aiki.

- tsoka hypotonia (tsoka sautin da aka saukar da, bãbu wani ƙarfi a cikin hannuwansu da ƙafãfunsu).

- da lokaci-lokaci da ya faru na seizures.

Yara da ciwo de Lange da matsaloli tare da ji da gani da kuma jawabin. Da yawa daga cikinsu magana kadan ko ba ce a kowane zamani. Iyaye lura cewa, mafi yawan yara bayyana son zũciyõyinsu gestures. Vision su ne irin wannan matsaloli:

- strabismus.

- myopia.

- astigmatism.

- atrophy na na gani jijiya.

ilimi ci gaba

Cornelia de Lange ciwo a Bugu da kari ga duk sauran kiwon lafiya rikitarwa haddasa shafi tunanin mutum retardation, wanda aka yi bikin a kusan kowane rashin lafiya yaro, kuma a 80% na lokuta ana bincikar lafiya imbecility ko debility. Duk da haka, akwai yara da de Lange ciwo da suka halarci yau da kullum preschools da kuma makarantu. Yana dogara a kan abin da na biyu siffofin da cutar jinya. A farko da aka kira da classic, a cikin abin da akwai da yawa bambancin a cikin samuwar da kuma aiki da kayan ciki, waje munanan kuma furta shafi tunanin mutum retardation. Na biyu nau'i ne conventionally kira lubricated. Lokacin da ta lura da wasu waje munanan, akwai wasu matsaloli da kayan ciki, amma ilimi cigaban a kan iyakar da bata lokaci ba.

Kamar yadda iyaye bayar da rahoton yara tare da ciwo de Lange a kowane zamani, kada ka tambaye ga bayan gida, sau da yawa yiwuwa ga hangula son yin wani iri-iri na sabon abu lafiya yara matakai: kullum yaga takarda, da ita, hallakar da dukan abin da ya faxa cikin hannuwansu, duk lokacin da ya motsa a cikin da'irar . Irin ayyuka ne yara kamar su kwantar da hankula.

A Sanadin cutar

Sai da na ɗauki kusan wata shẽkara ɗari daga lokacin da aka fara bayyana da Cornelia de Lange ciwo. A Sanadin cutar a lokacin wannan lokacin da muka samu daga. Wadannan su ne maye gurbi a cikin kwayoyin halittu. The most yawan lokuta a rubuce a maye gurbi a cikin chromosome 5, mafi daidai a NIPBL gene, wanda aka located in kafaɗarta, "p." A kananan kashi na ciwo de Lange rubuce a cikin mutane tare da maye gurbi na chromosomes 1A gina jiki (kira SMC1A gene), kuma daya hali da aka alama tare da maye gurbi a cikin chromosome sunadarai kira gene SMC3. Duk da haka, da Sanadin wadannan gene maye gurbi ne har yanzu a mataki na theories da shiriritar.

An yi imani da cewa za su iya haifar da cututtuka a ciki, musamman a lokacin farko da trimester, wasu kwayoyi, m shekaru uban yarinyar, ko masu juna biyu shekaru fiye da 35 shekara, kazalika da aure tsakanin dangi.

Amma babu wani daga wadannan dalilai ne ba wasu, da kuma 100% sa kwayoyin canje-canje.

Wani jarrabawa ne aiki fita da cewa Cornelia de Lange ciwo da aka gada, amma fiye da rabin na marasa lafiya binciken wannan cutar bayyana sporadically, karo na farko a tseren.

Cornelia de Lange Syndrome Forecast

An yi imani da cewa da wannan cuta ne sosai rare. Uniform data, da mita da wanda da shi ya auku, ba. Wasu kafofin da'awar cewa rashin lafiya yaro na 10 000 live haihuwar, wasu cewa daya da 100 000, da kuma wasu da ake kira daban-daban lambobin a cikin wannan fanni. Idan ka yi tunani game da shi, yana da ba haka ba kadan. Bisa kididdigar da kowace rana a duniya ne a haife game da 370 dubu jariran. Wannan shi ne, idan ka dauki ko da magangara mafi ƙasƙanci Figures, kowace rana da aka haife game 4 mutanen da suke kamu da Cornelia de Lange Syndrome.

Ta yaya da yawa irin mutanen da rayuwa, shi ya dogara da yawa abubuwan, waxanda suke da digiri na ciki sashin jiki munanan, su dace da ganewa da kuma ingancin da fassara likita effects. Idan jaririnka na da wani Pathology na ciki gabobin m da rai, ya ke mutuwa a watan farko bayan haihuwa. Idan munanan na ciki gabobin ne qananan ko yaro a lokacin da aka yi tiyata, tsawon rai na iya zama quite dogon. Tabi Hasashen da cewa jikin marasa lafiya da de Lange ciwo ne ba su iya samar da karfi da juriya ga cuta na al'ada, msl kwayar, da kuma wuya yaki da su.

magani

Mai mawallafa da kuma kafofin da'awar cewa babu wata hanyar da cewa in warkar da yaron wanda aka kamu Cornelia de Lange ciwo. Jiyya an rage wa m hanyoyin (idan akwai alamomi), shan bitamin, nootropics (sakamako a kan kwakwalwa aiki), anabolic steroids, rike kwantad da hankali. Duk da haka, a zamaninmu na m fasahar iya zama idan ba gaba daya shawo kan rashin lafiya, cewa rage ta bayyana. Yana bukatar imani da nasara, fifiko a haƙuri, da kudi, saboda lura ne da tsada. Ga lambobi na kananan dakunan shan magani da kuma cibiyoyin da ake dauka don taimaka:

1. Kiev. Kimiyya da kuma Methodological Center "Gaskiya", located in titi na Williams, da gina yawan 4. Phone: + 38-044-467-63-89 + 38-095-068-30-74. Ga suna aiki a kan hanyar Ulyany Luschik, akwai mai yawa tabbatacce feedback.

2. Moscow, Solntsevo. Kimiyya da kuma Practical Center located a kan titi na matukan jirgin, gina lambar 38. Phone: + 7-495-934-17-53, + 7-495-934-27-10, + 7-495-934-14-39. Akwai da yawa reviews cewa yara tare da ciwo de Lange bayan lura a wannan cibiyar zama mafi alhẽri.

3. Isra'ila. Cibiyar biocorrection su. Vasilyeva (jiyya ta halin kaka daga 10 dubu a. E.). Phone: 972-352-333-89.

A yara da ganewar asali "Cornelia de Lange Syndrome" rayuwa Hasashen ne sun fi mayar dogara a kan sadaukarwa kula da su 'yan qasar mutane, saboda tafiyar da irin wannan marasa lafiya bukatar kusan kowane minti daya. Sau da yawa sosai cimma sakamako mai kyau na lura an rage ko rage wa sifili, idan ka daina magani, ko kuma kawai saboda akwai wani koma dawowa.

Feedback daga iyaye, tabbatacce sakamakon a lura da 'ya'yansu samar kinesitherapy, musamman fi shirin na yin iyo da dabbobin ruwa a cikin Dolphinarium, bioritmokorrektsiya, aromatherapy, music azuzuwan, haske far.

rigakafin

Yana da wuya a yi magana game da m matakan da cutar, da Sanadin waxanda suke ba a sani ba. Ganin kafa dalilai da zai sa maye gurbi a cikin kayyade matakin, shi yana iya zama bu mai kyau:

- su hana ganewa na yara da jini zumunta,

- zama wary na marigayi mata da Ubanci.

- a lokacin daukar ciki, musamman a lokacin farko da watanni, ya dauki dukan matakan kauce wa kwayar cututtuka, da kuma a cikin taron na rashin lafiya dauki magani kawai bayan tuntubar likita.

Bisa nazarin da marasa lafiya da ciwo na Cornelia de Lange likitoci ayan yi imani da cewa a cikin wannan iyali za a iya sake haife wani rashin lafiya yaro a 2% na lokuta, a kuma waɗannan iyalai inda mahaifinsa ko uwa, akwai wasu cututtuka na ciwo de Lange, wani m yaro za a iya haife a 25% na lokuta. Saboda haka, duk mata ne a hadarin ya kamata sami a-zurfin prenatal ganewar asali, musamman don duba for magani PAPP gina jiki. Idan ba haka ba, akwai sosai high yiwuwar ciwon baby tare da Cornelia de Lange ciwo.