Larsen Syndrome: Zoyambitsa, Zizindikiro, Chithandizo

dongosolo lathu la majini ndi zovuta kuzimvetsa moti iliyonse kuwononga kwambiri zingachititse unyolo anachita ndi kusokoneza munthu si kwambiri. Asayansi zonse kupeza matenda atsopano, koma mawu awo, matupi amakhalabe unexplored nainte.

mafotokozedwe

Larsen syndrome (ICD-10 - M89 kachidindo) - ndi chosowa majini matenda amene ali osiyanasiyana mawonetseredwe phenotypic. Mbali kwambiri khalidwe amaonedwa kukhala dislocations ndi subluxations zimfundo lalikulu, pamaso pa malformations a mafupa nkhope ya Chibade ndi nthambi ntchito mavuto. Mawonetseredwe sekondale monga kupindika msana, clubfoot, aafupi, ndi kupuma mavuto.

syndrome Larsen chifukwa cha masinthidwe moti angayambe zokha ndi zimene tinatengera mu autosomal lalikulu mafashoni. Ndi kusintha jini ya FLNB kumanga gulu lonse la matenda zimene zimasonyeza chisokonezo dongosolo chigoba. zizindikiro zosiyanasiyana, ngakhale pakati pa abale.

zifukwa

Kodi ziyenera kuchitika mu thupi akutulukira chinayambira syndrome Larsen? Zimayambitsa matenda adakali kubisala otsiriza a sayansi. Amadziwika yekha kuti ndi khalidwe la cholowa autosomal lalikulu. Kuti ndi buku limodzi lokha la jini anasintha udzakhala wokwanira pochitika kudwala kwa ana awo, mwinanso adzukulu. Jini n'kutheka kuti anachokera ku makolo (kuchokera kapena kwa mmodzi) kapena chifukwa cha masinthidwe lachibadwa. Chiopsezo kulowa matenda - 50/50, mosaganizira za kugonana kwa mwana ndi chiwerengero cha mimba.

Jini kusinthidwa ili aafupi mkono wa khromozomu lachitatu. Ngati n'koyenera, akatswiri akhoza kudziwa kumene uthengawu ku maselo a pansi kusintha. Mwachibadwa, mbewu imeneyi encodes mapuloteni wodziwika mu mabwalo sayansi monga filamin B. Iyo imayimba mbali yofunika kwambiri mu kukula kwa cytoskeleton lapansi. Masinthidwe kutsogolera chakuti mapuloteni ikutha ntchito yake, ndipo mwa ichi, maselo a thupi ndi akhudzidwa.

Anthu ndi izi mosaicism syndrome n'zotheka. Ndi, mwamphamvu ndi chiwerengero cha matenda ndi mwachindunji amadalira chiwerengero cha maselo kunagwa. Anthu ena ngakhale akuganiza kuti ali ndi chilema jini izi.

EPIDEMIOLOGY

Larsen syndrome akufotokozera pa mlingo yomweyo amuna komanso akazi. Malinga ndi ziwerengero zoyerekeza, matenda kumachitika mu limodzi la wakhanda zikwi zana. Ndi, mwamwayi, yosowa kwambiri. Ziwerengero amaonedwa wosadalirika chifukwa pali vuto kudziwa syndrome izi.

Kwa nthawi yoyamba matendawa mu mabuku mankhwala yatchedwa cha m'ma-makumi awiri. Lauren Larsen ndi anzake anapeza ndi olembedwa milandu isanu ndi umodzi wa syndrome ana.

zizindikiro

Larsen matenda, monga tatchulazi, omwe ungadziwike mu njira zambiri, ngakhale pakati pa achibale. Zizindikiro kwambiri khalidwe la matenda amaonedwa kusintha mafupa nkhope. Zikuphatikizapo: chachikulu otsika mlatho wa mphuno ndi mphumi lonse, kuphwa nkhope, pamaso pa mphanga mlomo chapamwamba kapena m'kamwa. Komanso, ana ndi dislocations zimfundo lalikulu (m'chiuno, bondo, chigongono) ndi phewa subluxation.

Zala za anthu lalifupi, yotakata, ndi zimfundo ofooka kukhala lotayirira. dzanja mwina mafupa zina kuphatikiza ndi zaka ndi kuswa biomechanics kuyenda. Kwa ena, pali chosowa chodabwitsa monga tracheomalacia (kapena olimbikitsa a chichereŵechereŵe wa trachea a).

diagnostics

Matendawa "Larsen syndrome" wapangidwa yekha ndikatha kumfunsafunsa zonse za mtima, kuunika bwinobwino mbiri yake ya udokotala ndi kukhalapo kwa zizindikiro khalidwe X-ray. Komanso, zonse radiographic Kupenda angaulule kuvutika ndi okhudzidwa chitukuko chigoba, amene ali m'kalatayo okhudzana ndi matenda.

Ultrasound matenda mu utero angasonyeze syndrome Larsen. Photos mafupa mapangidwe ndi ophunzitsidwa bwino ultrasound katswiri kungakhale poyambira kufufuza kuvutika chibadwa cha mwana wosabadwayo. Popeza koyamba iwe sungakhoze kuwauza wotani matenda zachititsa kuti kudwala a chigaza nkhope ndi mafupa a malekezero, mayi woyembekezerayo tikulimbikitsidwa kuchita ndi amniocentesis ndi kuchititsa Kupenda majini kufufuza masinthidwe asakhale ndi vutoli lachitatu.

Ngati nthendayo anatsimikizira, koma banjali linaganiza kukhalabe mimba, mayi woyembekezerayo tikulimbikitsidwa kuchita Kaisara gawo ndondomeko, kuti kuwononga mafupa mwanayo pa ndime ake kudzera mafupa a chiuno akazi ndi yobereka ukazi.

chithandizo

miyeso achire si Cholinga chake ndi kuthetsa matenda, ndi kuchepetsa zizindikiro matenda. Izi nawo madokotala, orthopedists, akatswiri pa opaleshoni maxillofacial ndi chibadwa. Pambuyo aziona boma koyamba kwa mwanayo komanso kuona kuopsa kwa onse, angayambe kukonza kuyan'anila wogwila.

Njira kwambiri intrusive, amene ankachita syndrome Larsen - kutikita. M'pofunika kulimbikitsa minofu ndi Mitsemphayi akugwira zimfundo ndi kusintha ntchito yokonza kumbuyo ndi kuwongola msana. Koma akuyendera njira achire amafuna angapo ntchito. Iwo ndi zofunika kukonza mapindikidwe choipitsitsa kapena deformities chigoba vertebral olimba. Pamene tracheomalacia amafuna intubation kenako atakhala kupuma chubu (mosalekeza), umene kukhala patency wa airway chapamwamba.

Chithandizo cha matenda - njira yaitali kuti akhoza kutenga zaka. Ndi kusasitsa mwana kumawonjezera katundu pa fupa, ndipo mwina kachiwiri ayenera kukhazikitsa thupi, physiotherapy, ndipo mwinanso opaleshoni.