Mukati
Schwartz-Jampel syndrome - Ichi chirwere chenhaka chinoratidzwa mune dzakawanda anomalies ye skeleton uye inoperekedzwa nekukundikana mukugadzirisa neuromuscular excitability. Varwere vanotarisana nematambudziko mukuzorodza tsandanyama dzakasungwa, zvichitarisana nekumashure kwekuwedzera kwavo kufara (zvese mechanical uye magetsi), chinova ndicho chiratidzo chikuru chechirwere.
Chirwere chacho chakatanga kurondedzerwa muna 1962 navanachiremba vaviri: RS Jampel (neuro-ophthalmologist) uye O. Schwartz (chiremba wevana). Vakacherechedza vana vaviri - mukoma nehanzvadzi ine makore matanhatu nemakore maviri. Vana vaiva nezviratidzo zvechirwere chechirwere (blepharophimosis, kaviri mutsara weeyelashes, bone deformities, nezvimwewo), izvo vanyori vaibatanidza nekukanganiswa kwemajini.
Mupiro unokosha pakudzidza kwechirwere ichi chakaitwa nemumwe chiremba wetsinga D. Aberfeld, uyo akaratidza maitiro ehutachiona hwehutachiona hwekufambira mberi, uye akatarisawo zviratidzo zvetsinga. Panyaya iyi, pane kazhinji mazita akadaro echirwere se: Schwartz-Jampel syndrome, myotonia chondrodystrophic.
Schwartz-Jampel syndrome inozivikanwa sechirwere chisingawanzo. Zvirwere zvisingawanzo zvinowanzova zvirwere izvo zvinoonekwa kwete kupfuura 1 kesi pa2000 vanhu. Kuwanda kwechirwere chacho kunokosha, sezvo hupenyu hwevarwere vakawanda huri hupfupi, uye chirwere chacho pachacho chakaoma zvikuru uye chinowanzoonekwa navanachiremba vasina ruzivo mune zvenhaka neuromuscular pathology.
Yakave yakasimbiswa kuti kazhinji Schwartz-Jampel syndrome inowanikwa kuMiddle East, kuCaucasus neSouth Africa. Vanamazvikokota vanoti nyaya iyi inyaya yekuti munyika idzi ndimo mune michato ine hukama hwakasimba kudarika pasi rose. Panguva imwecheteyo, chikadzi, zera, dzinza hazvina simba pahuwandu hwekuitika kweiyo genetic disorder.
Zvikonzero zveSchwartz-Jampel Syndrome
Zvikonzero zveSchwartz-Jampel syndrome ndeye genetic kusagadzikana. Zvinofungidzirwa kuti iyi neuromuscular pathology inotemerwa ne autosomal recessive rudzi rwenhaka.
Zvichienderana nephenotype yechirwere, nyanzvi dzinoona zvinotevera zvikonzero zvekukura kwayo:
Mhando yekare yeSchwartz-Jampel syndrome imhando 1A. Nhaka inoitika maererano ne autosomal recessive type, kuberekwa kwemapatya ane chirwere ichi chinogoneka. Iyo HSPG2 gene, iri pachromosome 1p34-p36,1, inochinja. Varwere vanogadzira puroteni yakashandurwa inokanganisa kushanda kwezvinogamuchirwa zviri mumhando dzakasiyana-siyana, kusanganisira mhasuru tishu. Puroteni iyi inonzi perlecan. Muchimiro chekare chechirwere, iyo mutated perlecan inogadzirwa muhuwandu hwakajairika, asi inoshanda zvisina kunaka.
Schwartz-Jampel syndrome mhando 1B. Nhaka inoitika nenzira yeautosomal recessive, jini rimwechete pane imwe chromosome, asi perlecan haina kugadzirwa muhuwandu hwakakwana.
Schwartz-Jampel syndrome rudzi 2. Nhaka inoitikawo nenzira ye autosomal recessive, asi null LIFR gene, iri pa chromosome 5p13,1, inoshanduka.
Nekudaro, chikonzero nei mamhasuru ari muSchwartz-Jampel syndrome ari mukuita nguva dzose panguva ino nenguva haanyatso kunzwisiswa. Zvinotendwa kuti mutated perlecan inovhiringidza basa remasero emhasuru (yepasi membranes), asi kuitika kweskeletal uye tsandanyama kusagadzikana hazvisati zvatsanangurwa. Mukuwedzera, imwe chirwere (Stuva-Wiedemann syndrome) ine zviratidzo zvakafanana maererano nekuremara kwemisumbu, asi perlecan haina kukanganiswa. Munzira iyi, masayendisiti achiri kuenderera mberi nekuita tsvakiridzo inoshanda.
Zviratidzo zveSchwartz-Jampel syndrome
Zviratidzo zveSchwartz-Jampel syndrome zvakaparadzaniswa kubva kune ese aripo nyaya mishumo muna 2008.
Mufananidzo wekiriniki unoratidzwa nezvinhu zvinotevera:
Hurefu hwemurwere huri pasi peavhareji;
Yakareba tonic muscle spasms inoitika mushure mekufamba kwekuzvidira;
Chiso chakaoma nechando, “chakasuruvara”;
Miromo inomanikidzwa zvakasimba, shaya yezasi idiki;
The palpebral fissures nhete;
Rudzi rwebvudzi rwakaderera;
Chiso chakapfava, muromo mudiki;
Kubatana kwekubatana kunogumira - izvi zvinoshanda kumajoini e interphalangeal etsoka nemaoko, musana wemusana, majoini echikadzi, wrist joints;
Tsandanyama reflexes inoderedzwa;
Skeletal tsandanyama dzine hypertrophied;
Tafura ye vertebral inopfupiswa;
Mutsipa mupfupi;
Kuongororwa nehip dysplasia;
Kune osteoporosis;
Mitemo yetsoka yakaremara;
Inzwi romurwere itete uye riri pamusoro;
Kuona kwakashata, palpebral fissure inopfupiswa, maziso ari pakona yekunze kweziso akabatanidzwa, cornea iduku, pane kazhinji myopia uye cataracts;
Eyelashes yakakura, yakareba, kukura kwavo kwakavhiringidzika, dzimwe nguva kune mitsara miviri ye eyelashes;
Nzeve hadzina kudzikama;
Kazhinji hernia inowanikwa muvana - inguinal uye umbilical;
Vakomana vane machende madiki;
The gait is waddling, dhadha, kazhinji pane clubfoot;
Paakamira uye achifamba, mwana ari muhafu-squat;
Kutaura kwemurwere kune fuzzy, kusinganzwisisiki, salivation ndiyo maitiro;
Masimba epfungwa anokanganiswa;
Pane kunonoka mukukura nekukura;
Zera remapfupa ishoma pane zera repasipoti.
Mukuwedzera, zviratidzo zveSchwartz-Jampel syndrome zvinosiyana zvichienderana ne phenotype yechirwere:
Phenotype 1A chiratidzo
Iyo 1A phenotype inoratidzirwa nekutanga kuratidzwa kwechirwere. Izvi zvinoitika vasati vasvika makore matatu. Mwana ane mwero wekumedza uye matambudziko ekufema. Pane zvibvumirano pamajoini, izvo zvinogona kuvapo zvose kubva pakuberekwa uye kuwanikwa. Hudyu dzemurwere dzakapfupika, kyphoscoliosis uye zvimwe zvisizvo mukukura kweskeleton zvinodudzwa.
Kufamba kwemwana kwakaderera, izvo zvinotsanangurwa nematambudziko ekuita mafambiro. Chiso hachina kufamba, chiyeuchidzo chemasikisi, miromo inomanikidzwa, muromo muduku.
Mimhasuru yacho ine hypertrophied, kunyanya tsandanyama dzezvidya. Paunenge uchirapa vana vane classic course yeSchwartz-Jampel syndrome, munhu anofanirwa kufunga nezvenjodzi huru yekugadzira zvinetso zveanesthetic, kunyanya yakaipa hyperthermia. Inoitika mu25% yezviitiko uye inouraya mu65-80% yezviitiko.
Kukanganisika kwepfungwa kunotangira panyoro kusvika pakati. Panguva imwecheteyo, 20% yevarwere vakadaro vanozivikanwa sevasina pfungwa, kunyange zvazvo kune tsanangudzo dzemakiriniki emakiriniki apo njere dzevanhu dzaive dzakakwirira.
Kuderera kwemyotonic syndrome kunoonekwa pakutora Carbamazepine.
Phenotype 1B chiratidzo
Chirwere ichi chinokura muhucheche. Zviratidzo zvemakiriniki zvakafanana neaya anocherechedzwa mumhando dzakasiyana dzechirwere chechirwere. Musiyano ndewokuti ivo vanonyanya kutaurwa. Chekutanga pane zvese, izvi zvine chekuita ne somatic kusagadzikana, kunyanya kufema kwemurwere kunotambura.
Skeletal anomalies yakanyanya kuoma, mapfupa akaremara. Chitarisiko chevarwere chakafanana nevarwere vane Knist syndrome (kupfupika torso nemakumbo ezasi). Kufungidzira kweiyi phenotype yechirwere haina kunaka, kazhinji varwere vanofa vachiri vaduku.
Phenotype 2 chiratidzo
Chirwere ichi chinozviratidza pakuzvarwa kwemwana. Mafupa marefu akaremara, chiyero chekukura chinodzikiswa, nzira yehutachiona yakaoma.
Murwere anowanzoita kuputsika, kushaya simba kwetsandanyama, kufema uye kumedza zvirwere zvinoonekwa. Vana vanowanzotanga kungoerekana vaita hyperthermia. Kufungidzira kwakaipisisa kupfuura ne phenotypes 1A uye 1B, chirwere chinowanzoguma nekufa kwemurwere pazera rekutanga.
Zvikamu zvekiriniki kosi yechirwere muhuduku:
Paavhareji, chirwere chinotanga mugore rokutanga rehupenyu hwemwana;
Mwana ane dambudziko rekuyamwa (anotanga kusveta mushure menguva yakati mushure mekubatanidzwa pazamu);
Motor basa rakaderera;
Zvinogona kuva zvakaoma kuti mwana atore pakarepo chinhu chaanenge akabata kubva mumaoko ake;
Kukura kwepfungwa kunogona kuchengetedzwa, kukanganisa kunoonekwa mu25% yematambudziko;
Vazhinji vevarwere vakabudirira kupedza chikoro, uye vana vanopinda chikoro chedzidzo, uye kwete masangano edzidzo.
Kuongororwa kweSchwartz-Jampel syndrome
Perinatal kuongororwa kweSchwartz-Jampel syndrome inogoneka. Nokuda kweizvi, ultrasound ye fetus inoshandiswa, panguva iyo skeletal anomalies, polyhydramnios, uye kukanganisa kusveta kufamba kunowanikwa. Zvibvumirano zveCongenital zvinogona kuonekwa pamavhiki e17-19 ekuberekwa, pamwe nekupfupisa kana kuremara kwehudyu.
Biochemical analysis yeropa serum inopa zvishoma kana kuwedzera kuwedzera muLDH, AST uye CPK. Asi kubva kumashure kwekuzvimiririra kuzvigadzira kana kutsamwisa yakashata hyperthermia, iyo CPK level inowedzera zvakanyanya.
Kuti uongorore kusagadzikana kwemisungo, electromyography inoitwa, uye kuchinja kuchaonekwa kare kana mwana asvika mwedzi mitanhatu yezera. A muscle biopsy inogoneka zvakare.
Kyphosis yemuzongoza, osteochondrodystrophy inowanikwa neX-ray kuongororwa. Zvironda zvemusculoskeletal system zvinonyatsooneka panguva yeMRI uye CT. Ndiyo nzira mbiri dzekuongorora dzinoshandiswa kakawanda navanachiremba vemazuva ano.
Zvakakosha kuita kusiyanisa kuongororwa nezvirwere zvakadai se: chirwere cheKnist, chirwere chePyle, Rolland-Desbucois dysplasia, congenital myotonia yemhando yekutanga, Isaacs syndrome. Kusiyanisa pathologies kunobvumira nzira yemazuva ano yekuongorora se genetic DNA typing.
Kurapa kweSchwartz-Jampel syndrome
Parizvino, hapana pathogenetic kurapwa kweSchwartz-Jampel syndrome. Vanachiremba vanokurudzira kuti varwere vatevedzere maitiro ezuva nezuva, muganhu kana kubvisa zvachose kuwandisa kwemuviri, sezvo chiri chinhu chakasimba zvikuru chinokurudzira kufambira mberi kwechirwere.
Nezvekugadziriswa kwevarwere, mabasa aya anosarudzwa pamunhu oga uye achasiyana zvichienderana nedanho rechirwere. Varwere vanokurudzirwa physiotherapy maekisesaizi ane dosed uye nguva dzose kurovedza muviri.
Nezvekudya, iwe unofanirwa kusabvisa chikafu chine huwandu hukuru hwe potassium munyu mukuumbwa kwavo - aya mabhanana, maapricots akaomeswa, mbatatisi, mazambiringa akaomeswa, nezvimwewo. Zvokudya zvinofanira kupiwa kumurwere nenzira ye puree, mumhando yemvura. Izvi zvinoderedza kuomerwa nekutsenga chikafu chinoitika nekuda kwekutsemuka kwemhasuru dzechiso uye masticatory tsandanyama. Mukuwedzera, munhu anofanira kuziva nezvengozi yekushuva kwemhepo ine bolus yezvokudya, izvo zvinogona kutungamirira kukuvandudzwa kweaspiration pneumonia. Uyewo, kufambira mberi kwechirwere kunokonzerwa nekushandiswa kwezvinwiwa zvinotonhorera uye ice cream, kushambidza mumvura inotonhora.
Zvakanakira physiotherapy pakurapa kwechirwere hachifanirwe kurerutswa.
Schwartz-Jampel. Mabasa anopiwa kune physiotherapist:
Kuderedza kuoma kwe miotic zviratidzo;
Kudzidziswa kwemisungo ye extensor yemakumbo nemaoko;
Kumisa kana kuderedza kuumbwa kwemapfupa uye mhasuru contractures.
Mabhati akasiyana-siyana (munyu, mutsva, coniferous) anogara maminetsi gumi nemashanu zuva nezuva kana mamwe mazuva ese anoshanda. Anobatsira mabhati emunharaunda ane kuwedzera zvishoma nezvishoma kwekushisa kwemvura, ozocerite uye parafini application, kuratidzwa kune infrared rays, zvinyoronyoro massage uye mamwe maitiro.
Zvinokurudzirwa pamusoro pekurapa kwepa spa ndezvinotevera: kuenda kunzvimbo dzine mamiriro ekunze ari pedyo sezvinobvira kumamiriro enguva dzose umo murwere anogara, kana kushanyira nzvimbo dzine mamiriro okunze akanyoro.
Kuderedza kuoma kwezviratidzo zvechirwere, mishonga inotevera inoratidzwa:
Antiarrhythmic agents: Quinine, Diphenine, Quinidine, Quinora, Cardioquin.
Acetazolamide (Diacarb), inotorwa nemuromo.
Anticonvulsants: Phenytoin, Carbamazepine.
Botulinum toxin inopihwa pamusoro.
Kudya kwetsandanyama kunochengetwa nekutora vhitamini E, selenium, taurine, coenzyme Q10.
Nekuvandudzwa kwebilateral blepharospasm uye muhupo hweptosis mbiri, varwere vanokurudzirwa kuvhiyiwa kwemaziso. Progressive bone deformities, kuitika kwezvibvumirano - zvose izvi zvinotungamirira kune chokwadi chokuti varwere vachazofanira kupfuura nemaitiro akawanda emapfupa. Nekuda kwenjodzi yekukura hyperthermia yakaipa muhuduku, zvinodhaka zvinopihwa rectally, nemuromo kana intranasally. Kuvhiya pasina kukundikana kunoda preliminary sedation nebarbiturates kana benzodiazepines.
The classical course yechirwere maererano ne phenotype 1A haina mhedzisiro yakakosha pane tarisiro yehupenyu hwemurwere. Ngozi yekuva nemwana mumhuri ine nhoroondo yakaremerwa yakaenzana ne25%. Varwere vanoda rubatsiro rwepfungwa uye rwemagariro evanhu. Mukuwedzera, murwere anofanira kutungamirirwa nenyanzvi dzakadai se: geneticist, cardiologist, neurologist, anesthesiologist, orthopedist, chiremba wevana. Kana pane kukanganisa kwekutaura, ipapo makirasi ane kutaura pathologist-defectologist anoratidzwa.