Larsen Syndrome: Zvinokonzera, Zviratidzo, Treatment

Bumbiro redu kuvabereki ndizvo kunzwisisa kuti chero chakakomba kukuvadzwa kunogona kukonzera chiketani maitiro uye zvinokanganisa munhu haasi panguva yayo yakanakisisa. Masayendisiti tichingotarisira kuwana chirwere chitsva, asi, nemashoko avo, kuti genome anoramba unexplored mapfumbamwe muzana.

tsananguro

Larsen chirwere iri (ICD10 - M89 romutemo) - haiwanzowaniki nemagene chirwere kuti ane zvakawanda phenotypic kuratidzwa. Zvikuru maitiro zvinhu vanoonekwa kuti dislocations uye subluxations makuru mapfundo, kuvapo malformations mapfupa chiso yeDehenya kuzviremadza shanda matambudziko. The yechipiri kuratidzwa zvinosanganisira scoliosis, clubfoot, nomumhu, uye zvinetso kufema.

Larsen chirwere kunokonzerwa nguva kunotouraya kuti anogona zvaitika uye kuti nhaka ive autosomal zvakazara mufashoni. With kuchinja majini FLNB kusunga boka rose zvirwere kuti kuratidza kuvhiringidzika skeletal ino. Dzinenge zvingaratidza siyana, kunyange pakati pehama.

zvikonzero

Chii chinofanira kuitika munyika zvichiitika muviri dzakatangira Larsen chirwere? The zvinokonzera chirwere ichi vachiri akavanda mambakwedza nesayenzi. Zvinonzi chete anozivikanwa kuti maitire autosomal kureva nhaka. Ndiyo imwe chete kopi zvakachinja Gene achava zvakakwana kupfuura zvokurwara kuvana vavo, uye zvichida kunyange vazukuru. Majini anogona Rinobva vabereki (kubva kana kubva kune) kana kuva pamusana kwatangwa kunotouraya. The mukana nhaka chirwere - 50/50, pasinei zvepabonde mwana uye uwandu pamuviri.

The dzakachinjwa Gene iri pfupi ruoko wechitatu chromosome. Kana kutsvakwa, vaongorori anogona kuona nzvimbo majini mashoko pasi kuchinja. Kazhinji, Gene ichi inofananidzira ane puroteni aizivikanwa madenderedzwa sayenzi sezvo filamin B. It anotamba basa rinokosha mune kukura cytoskeleton. Kunotouraya kukonzera kuti puroteni hunoguma kuita ayo basa, uye kubva ichi, masero muviri vanokanganiswa.

Vanhu vane ichi chirwere mosaicism zvinokwanisika. Kureva, kukuvadza uye nezviratidzo zvinoverengeka chirwere vari zvakananga novimba nhamba masero yakarohwa. Vamwe vanhu vanogona kunyange vanofungira kuti vane akaremara Gene ichi.

epidemiology

Larsen chirwere hwapedyo panguva mwero chete mune varume nevakadzi. Maererano anofungidzirwa nokufungidzira, hosha rinowanikwa mune imwe kubva zviuru zana mucheche. Zviri, sezvinei, mashoma zvikuru. Inofungidzirwa vanoonekwa vasingavimbiki nokuti pane zvimwe dambudziko panoongororwa urwere ichi.

Kokutanga hosha iri mabhuku ezvokurapa yakatsanangurwa pakati pezana-ramakumi remakore. Lauren Larsen uye nevamwe vakawana uye yakanyorwa nyaya nhanhatu ari chirwere muvana.

zviratidzo

Larsen urwere, sezvataurwa pamusoro apa, kungaratidzwa nenzira dzakawanda, kunyange pakati pedyo nehama. The kupfuura mifananidzo zviratidzo chirwere vanoonekwa kuchinja mapfupa chiso. Idzi dzinosanganisira: munoremekedza pasi zambuko mhino uye yakafara huma, flat chiso, kuvapo mumukaha yokumusoro muromo kana mukanwa. Uyezve, vana dislocations mikuru majoini (hudyu, mabvi, kugokora) uye fudzi subluxation.

Minwe yevanhu pfupi, yakafara, pamwe simba majoini kuva kusunungura. The chiningoningo kungava okuwedzera mapfupa kuti batanidza nezera uye nokuputsa biomechanics rwokufamba. Kune vamwe vanhu, pane kudaro isingawanzowanikwi chakajairika sezvo tracheomalacia (kana kunyoroveswa pamusoro shwashwa yacho trachea).

Diagnostics

Chirwere "Larsen chirwere" anoitwa chete pashure azere kuzviongorora murwere, kunyatsoongorora nhoroondo yake zvokurapa uye kuvapo maitiro X-ray zviratidzo. Uyezve, imwe radiographic kuongorora zvizere anogona kuzivisa abnormalities uye kuyeuka skeletal kukura, izvo zvisina kunanga akarondedzera chirwere.

Ultrassom chirwere muna utero kungaratidza Larsen syndrome. Photos of pfupa inotungamirwa kuti vakanyatsodzidziswa Ultrasound nyanzvi inogona kuva pokutangira kutsvaga majini abnormalities ari mudumbu. Sezvo pakutanga kuaona haugoni kuudza kuti chirwere mhando zvakakonzera zvokurwara ari chiso dehenya uye mapfupa wamativi, amai vanepamuviri inokurudzirwa aite amniocentesis uye kuitisa majini kuongororwa kutsvaga kunotouraya ari wechitatu chromosome.

Kana hosha akatsinhira, asi vakasarudza kuramba pamuviri, amai vanepamuviri inokurudzirwa kuita caesarean chikamu nzira, kuti arege kuparadza mapfupa mwana panguva ndima yayo kuburikidza chiuno vakadzi kusangana nekutsi kwemukadzi pakusununguka.

mabatiro

Kuchirapa matanho hadzina nechinangwa kuchaitwa chirwere, uye kuderedza zvekuchipatara zviratidzo. Izvi zvaisanganisira pediatricians, orthopedists, vanachiremba mu maxillofacial oparesheni uye genetics. Pashure kunyatsoongorora kwokutanga mamiriro mwana uye kuongorora zvose ngozi, vanogona kutanga kugadzirisa yaivapo kutyorwa.

Unonyanya intrusive chisarudzo, iyo ikarapwa Larsen chirwere - masaja. Zvakakodzera kusimbisa tsandanyama nemarunda vanobatisisa mapfundo, uye kuvandudza kwerunyararo kumashure uye ruramisa mashoko nomuzongoza. Asi vasati mberi kuchirapa nzira vanoda nhamba remapazi. Vari inodiwa kuti kururamisa kwakakomba deformation kana skeletal deformities, vertebral Kudzikamiswa. Kana tracheomalacia zvinoda intubation uye ipapo nokuisa kufema chubhu (chinoramba), izvo achagadzira patency rokumusoro yemweya.

Kurapa chirwere ichi - yakareba muitiro unogona kutora makore. Nengano kuibvisa mwana kunowedzera mutoro pamusoro pfupa, uye vangada mumuviri vapore, physiotherapy, uye zvichida kunyange kuvhiya zvakare.