Zochitika za nkhope zosiyana ndimarkmark ya matendawa
Matenda a Cornelia de Lange (CDLS), omwe amadziwika kuti Matenda a Bachmann-de Lange, ndi matenda omwe amachititsa kuti anthu azibadwa. Matendawa angakhudze mbali zingapo za thupi ndi mzere wochepa kwambiri. CDLS ikhoza kulandira; Komabe, nthawi zambiri zimayambitsidwa ndi kusintha kwatsopano.
Mpaka pano, CDLS yakhala ikugwirizana ndi kusintha kwa maselo a NIPBL, SMC1A, HDAC8, RAD21, ndi SMC3.
Ambiri amachokera kusintha kwa kusintha kwa geni la NIPBL. Pafupifupi 30 peresenti ya milandu sagwirizana ndi iliyonse ya kusintha kwa majini. Chiwerengerochi chimakhudza paliponse kuchokera kwa ana khumi mpaka 10,000 mpaka 30,000. Anthu ambiri angakhale ndi vuto ngati mayendedwe ofatsa angapite osadziwika. CDLS ikhoza kupezedwa mwachindunji kupyolera mu kuyesedwa kwa majini.
Zizindikiro zosiyana za thupi
Zambiri za zizindikiro za matenda a Cornelia de Lange zilipo pakubereka. Anthu omwe ali ndi CDLS ali ndi nkhope zooneka monga:
- Maso okonzeka omwe amawoneka kuti amamveka bwino komanso amamveka bwino (99 peresenti ya milandu)
- Maulendo aatali a curly (99 peresenti ya milandu)
- Maulendo a kumunsi ndi kumbuyo (92 peresenti ya milandu)
- Mphuno yotembenuka (88 peresenti ya milandu)
- Mitsempha yotuluka m'kamwa ndi milomo yopyapyala (94 peresenti ya milandu)
- Nsagwada yaing'ono ndi / kapena kuthamangira nsagwada yapamwamba (84 peresenti ya milandu)
- Pulogalamu yamakono
Zovuta zina zomwe zingakhalepo kapena sizikhalapo pakubereka zikuphatikizapo:
- Mutu waung'ono (microcephaly) (98 peresenti ya milandu)
- Mavuto a maso ndi masomphenya (50 peresenti ya milandu)
- Mutu wambiri wa thupi, womwe ukhoza kuonda ngati mwana akukula (78 peresenti ya milandu)
- Khosi lalifupi (66 peresenti ya milandu)
- Kupereka zoperewera monga kusowa zala, manja ochepa kwambiri, ndi / kapena kutsogolo kwa zala za pinky
- Ziphuphu za mtima
Ana omwe ali ndi matenda a Cornelia de Lange ambiri amabadwa ochepa, nthawi zina msanga. Okhudzidwawo akhoza kukhala ndi minofu yambiri, kudyetsa kudya, ndi kulira kochepa, kofooka. Ana omwe ali ndi CDLS angakhalenso ndi reflux ya gastroesophageal komanso kugwidwa.
Zinenero ndi Zizolowezi Zochita
Ana omwe ali ndi matenda a Cornelia de Lange samakula mwamsanga monga ana ena. Ambiri amakhala ndi zolemala, koma ena amakhala olumala kwambiri (okhala ndi IQ ya 30 mpaka 85). Chifukwa cha mavuto ndi pakamwa pawo, kumva, ndi chitukuko, ana omwe ali ndi CDLS nthawi zambiri amayamba kulankhula mochedwa kuposa anzawo.
Mavuto a khalidwe kwa ana omwe ali ndi CDLS angaphatikizepo kutaya mtima, kudzivulaza, kukhumudwa, ndi kusokonezeka. Ana awa akhozanso kuwoneka ngati ali ndi matenda a autism chifukwa cholephera kuchepetsa anthu ena, khalidwe lobwerezabwereza, vuto la nkhope, ndi kuchedwa kwa chinenero.
Kuchiza CDLS
Chithandizo chimayang'ana kuthana ndi zizindikiro za CDLS kotero kuti omwe akukhudzidwa akhoza kukhala ndi moyo wamba. Makanda amapindula ndi mapulogalamu oyambirira omwe amathandizira kukonza minofu, kuyang'anira mavuto odyetsa, komanso kupanga maluso abwino ogwiritsa ntchito magalimoto. Odwala m'maganizo angathandize kuthetsa zizindikiro za khalidweli.
Ana amafunikanso kuwona akatswiri a cardiologists kapena ophthalmologists chifukwa cha vuto la mtima ndi diso. Chiyembekezo cha moyo ndi chachilendo ngati mwana alibe zovuta zazikulu zonga mkati mwa mtima monga zofooka za mtima.
Chitsime:
Tekin, M. (2015). Matenda a Cornelia de Lange. eMedicine.