Zviratidzo, Zvinokonzera uye Kurapa kweGenetic Syndrome
Schwartz-Jampel syndrome (SJS) chirwere chisingawanzoiti, chakagara nhaka chinokonzera kusagadzikana kwemafupa emakumbo.
Zvimwe zvezvakaipa zvinokonzerwa nehutano zvinosanganisira zvinotevera:
- Myotonic myopathy (musimba utera uye kuoma)
- Bone dysplasia (apo mapfupa haasati achinjwa)
- Joint contractures (masangano anogadziriswa munzvimbo, achidzivirira kufamba)
- Dwarfism (nguva pfupi)
SJS inowanzofungidzirwa kuti inoshandiswa pakugadzirisa zvinhu, zvichireva kuti munhu anoda kugara nhaka mbiri dzisina maturo, imwe kubva kumubereki umwe neumwe, kuitira kuti iwedzere chirwere.
Mhando dzeSchwartz-Jampel Syndrome
Kune zvikamu zvakati zvishoma zveSchwartz-Jampel syndrome. Tora I, inofungidzirwa yekare, inonzi subtypes iyo yakave yakarongeka kune yakakosha geni pane chromosome 1:
- Nyora IA inova pachena gare gare muhuduku uye isinganyanyi kuoma.
- Nyora IB inoonekwa pakarepo paakaberekwa uye ine zviratidzo zvakanyanya.
Schwartz-Jampel syndrome Type II inowanikwa pakarepo pakuberekwa. Iine zviratidzo zvakasiyana zvakasiyana neyeIA kana IB uye hazvibatanidzi nemhando ipi zvayo yepabonde pane chromosome imwe.
Nokudaro, nyanzvi dzakawanda dzinofunga kuti Rudzi rwechipiri nderwechirwere chakafanana neStuve-Wiedermann syndrome-chisingawanzo uye chakanyanya skeletal disorder ine uwandu hwekufa mumwedzi mishoma yekutanga yehupenyu, kunyanya nekuda kwezvinetso zvokufema.
Nokudaro, Rudzi rwe I runenge ruchikurukurwa munyaya ino.
Zviratidzo zveSJS
Chiratidzo chikuru cheSchwartz-Jampel chirwere ndechekuoma kwemasumbu. Uku kuoma kwakafanana neye Stiff-person syndrome kana Isaacs syndrome , asi kuoma kweSchwartz-Jampel syndrome hakuregi nemishonga kana kurara. Zvimwe zviratidzo zveSJS zvinogona kusanganisira:
- Nguva shoma
- Zviso zvakatarisa zviso, zvikamu zviduku zvemaziso, uye tambo duku shoma
- Maitiro akafanana akafanana nehuro pfupi, kunze kwekunze kwemutsana (kyphosis), kana kuburitsa chifu (pectus carinatum, inonziwo "pigeon chest")
- Kuipa kwepfupa nekatetila kukura (izvi zvinonzi chondrodystrophy)
- Vanhu vazhinji vane SJS vanewo maziso akawanda (ocular) asina kukwana, zvichiita kuti zvioneke zvakasiyana-siyana zvekuona kuora mwoyo
Zvakakosha kunzwisisa kuti mamiriro ose eSJS akasiyana uye anowirirana muhupamhi uye hutsinye hwezviratidzo zvakabatanidzwa, zvichienderana nerudzi rwechirwere.
Mamiriro Api Anozivikanwa
SJS inowanzowanikwa mumakore mashomanana okutanga ehupenyu, kazhinji pakuberekwa. Vabereki vangaona hutu hwemucheche hwemucheche panguva yekuchinja kwejasi, somuenzaniso. Uku kusimba pamwe nechitarisiko chinowanzoenderana nechirwere chinowanzotarisa kuongororwa .
Zvimwe zvidzidzo zvakafanana ne-x-rays, tsvina yemasumbu, kuongorora musimba inokonzerwa neropa, uye mishonga uye mushuvo yekuita mitezo mumwana ichaitwa kuitira kusimbisa kusagadzikana kwakaenderana neSJS. Kuenzanisa kwemajeni kwechiremera chinokonzerwa nekromosome 1 (iyo HSPG2 gene) inogonawo kusimbisa kuongororwa.
Mune dzimwe nguva zvisingawanzoitiki, kusati waberekwa (kusati waberekwa) kuongororwa kweSJS kunogona kuitika kuburikidza nekushandiswa kwe-ultrasound kuona kana fetus ine zvigadziro zvinoreva SJS kana zvimwe zvisizvo zvisingabatsiri.
Zvinokonzera Schwartz-Jampel Syndrome
Sezvo SJS inowanzopiwa nhaka mumutambo wekuzvidzivirira, kana munhu akaberekwa ane chirwere chevabereki vake vose vanotakura gadziriro isina kukwana. Mwana mumwe nomumwe weramangwana uyo vabereki ava achava nemukana wechina wekuberekwa ane chirwere. Kazhinji, SJS inofungidzirwa kuti inotora nhaka muzvinyorwa zvinotaridzika. Muzviitiko izvi, imwe chete yakashata yakakwana inoda kupiwa nhaka yechirwere ichi kuzviratidza.
Kakawanda, SJS chirwere chisina kuwanikwa chine mazita 129 akanyorwa, maererano neshumo mu Advanced Biomedical Research . SJS haina kupfupisa mararamiro ehupenyu, uye varume nevakadzi vanobatwa zvakaenzana nechirwere ichi.
SJS rudzi rwechipiri (inonzi Stuve-Wiedermann syndrome) inowanzove yakazara kune vanhu veUnited Emirates Emcentre.
Kurapa kwaSchwartz-Jampel Syndrome
Ikoko hakuna mushonga weSchwartz-Jampel syndrome, saka kurapwa kunotarisa kuderedza zviratidzo zvechirwere. Mishonga inobatsira mune zvimwe zvinetso zvemasumbu, zvakadai semishonga inoshandiswa nemishonga inonzi Tegretol (carbamazepine) uye anti-arrhythmic mishonga mexiletine inogona kubatsira.
Zvisinei, kuoma kwemisumbu muSchwartz-Jampel syndrome kunogona kuwedzera kukurumidza pane nguva, saka kushandisa nzira zvinoshandiswa kunze kwemishonga inogona kunge yakanakisisa. Izvi zvinosanganisira misisita inopisa, kupisa, kutambanudza, nekudziya musati maita basa.
Kuvhiya kubatsira kubata kana kugadzirisa zvirwere zvisina kufanira, zvakadai sesungano dzekubatana, kyphoscoliosis (apo musana wemagetsi unoita zvisingazivikanwi) uye hip dysplasia inogona kuva sarudzo kune vamwe varwere veSJS. Kune vamwe, kuvhiyiwa pamwe chete nehutano hwepanyama kunogona kubatsira kuvandudza kukwanisa kufamba uye kuita zvimwe zviitiko zvakasununguka.
Nokuda kwezvinetso zvekuona uye ziso, kuvhiyiwa, magirazi ekugadzirisa, mabhizimisi ekubatanidza, Botox (nokuda kwechikafu chebheyeri), kana dzimwe nzira dzinotsigira dzinogona kubatsira kuvandudza maonero.
Sources:
Ault J. (2014). eMedicine: Schwartz-Jampel syndrome.
Basiri K, Fatehi F, Katirji B. The Schwartz-Jampel syndrome: Nyaya yenyaya uye kuongorora mabhuku. Adv Biomed Res. 2015; 4: 163.
Begam MA. Alsafi W, Bekdache GN, Chedid F, Al-Gazali L, Mirghani HM. Stuve-Wiedemann syndrome: a skeletal dysplasia yakaratidzwa nemapfupa akarembera. Ultrasound Obstet Gynecol. 2011 Nov; 38 (5): 553-8.
National Organisation for Rare Disorders. (2016). Schwartz-Jampel Syndrome.