Zizindikiro, Kuzindikira, ndi Chithandizo
Matenda a Jarcho-Levin ndi vuto la kubadwa kwa chibadwa limene limayambitsa mafupa osayenerera pamtsempha (vertebrae) ndi nthiti. Makanda obadwa ndi matenda a Jarcho-Levin amakhala ndi khosi lalifupi, tsitsi lochepa, khosi lalifupi komanso kupuma kovuta, chifukwa cha zifuwa zazing'ono zomwe zimakhala ndi maonekedwe osiyana-siyana.
Matenda a Jarcho-Levin amabwera mwa mitundu iwiri yomwe imatengedwa monga makhalidwe obadwa ndi mavitamini omwe amatchedwa:
- Spondylocostal Dysostosis mtundu 1 (SCDO1)
- Spondylocostal Dyostosis mtundu 2 (SCDO2) (mawonekedwewa ndi ovuta kuposa SCDO1, popeza kuti palibe ma vertebrae omwe amakhudzidwa)
Palinso matenda ena ofanana ndi amenewa omwe amatchedwa spondylocostal dysostoses (osati oopsa monga matenda a Jarcho-Levin) omwe amadziwika ndi mitsempha ya msana ndi nthiti.
Matenda a Jarcho-Levin ndi osowa kwambiri ndipo amakhudza onse amuna ndi akazi. Sikudziwikiratu momwe zimakhalira nthawi zambiri koma zikuwoneka kuti pali chikhalidwe chapamwamba mwa anthu a ku Spain.
Zizindikiro
Kuwonjezera pa zizindikiro zina zotchulidwa kumayambiriro, zizindikiro zina za matenda a Jarcho-Levin zingaphatikizepo izi:
- Matenda osalimba a vertebrae (msana), monga kuphwanya mafupa
- Mafupa osagwidwa ndi mpweya amachititsa kuti msanawo upitirire kunja ( kyphosis ), mkati (lordosis), kapena mbali ( scoliosis )
- Mafupa osagwidwa ndi mphuno ndi mazira osadziwika amachititsa kuti khungu likhale laling'ono komanso chifukwa cha msinkhu wochepa kwambiri.
- Zina mwa nthitizi zimagwirizanitsidwa limodzi ndipo zina zimakhala zovuta, kupereka chifuwa ngati maonekedwe a nkhanu
- Khosi ndi lalifupi ndipo liri ndi kayendedwe kochepa
- Nthawi zina zimakhala zovuta kumvetsa komanso nthawi zina zimakhala zochepa
- Ziphuphu za kubadwa zingakhudzenso dongosolo lalikulu la mitsempha, ziwalo zoberekera, ndi njira yobereka, kapena mtima
- Chifuwa chopweteka kwambiri chomwe chimakhala chaching'ono kwambiri m'mapapu a makanda (makamaka momwe mapapo amakula) angayambitse matenda opatsirana mobwerezabwereza komanso amphamvu (chibayo).
- Zina zachinsinsi (syndactyly), zojambulidwa komanso zowonongeka (zapadtactyly) zala
- Mbali yaikulu, mlatho wamkati wamkati, mphuno zomwe zimapita kutsogolo, maso otukuka pamwamba, ndi chigawenga chapamwamba
- Kutsekemera kwa chikhodzodzo nthawi zina kumayambitsa mimba yotupa ndi m'mimba mwa khanda
- Matenda osasinthika, omwe sali kunja kwa chiberekero, chiberekero chachiŵiri, zotsekedwa kapena zosaoneka zowakomera ndi chikhodzodzo, kapena amerilical artery ndi zizindikiritso zina zomwe zingakhale zoonekeratu
Kudziwa
Matenda a Jarcho-Levin kawirikawiri amapezeka mwa khanda lobadwa ndi maonekedwe a mwanayo komanso kusakhala kosavuta kumtunda, msana, ndi chifuwa. Nthawi zina kufufuza kwa ultrasound kusamalidwa kungasonyeze mafupa osalimba. Ngakhale kuti zimadziwika kuti matenda a Jarcho-Levin amagwirizanitsidwa ndi kusintha kwa jeni la DLL3, palibe njira yeniyeni yeniyeni yomwe imapezeka kuti idziwe.
Chithandizo
Makanda obadwa ndi matenda a Jarcho-Levin amalephera kupuma chifukwa cha zifuwa zawo zochepa, choncho amatha kupuma mobwerezabwereza ( chibayo ).
Pamene mwanayo akukula, chifuwa ndi chochepa kwambiri kuti sichikhala ndi mapapu akukula, ndipo zimakhala zovuta kuti mwanayo apulumuke kupitirira zaka ziwiri. Chithandizochi chimakhala ndi chithandizo chamankhwala champhamvu, kuphatikizapo mankhwala opatsirana opuma komanso opaleshoni yapafupa.
Zotsatira:
National Organisation for Disorder Disorders. Jarcho Levin Syndrome.
Beine, O., J. Bolland, A. Verloes, FR Lebrun, J. Khamis, & Ch. Muller. "Spondylocostal dysostosis: Matenda osadziwika a majini." Rev Med Liege 59 (2004): 513-516.
Takikawa, K., N. Haga, T. Maruyama, A. Nakatomi, T. Kondoh, Y. Makia, A. Hata, H. Kawabata, & S. Ikegawa. "Nthiti ndi nthiti zosaoneka bwino komanso kukula mu spondylocostal dysostosis." Mphindi 31 (2006): E192-197.