Zamkatimu
Schwartz-Jampel syndrome - Ichi ndi cholowa matenda amene anasonyeza mu anomalies angapo a mafupa ndi limodzi ndi zolephera m`kati neuromuscular excitability. Odwala amakumana ndi zovuta pakupumula minofu yolumikizidwa, motsutsana ndi maziko a kuchuluka kwa chisangalalo (mawotchi ndi magetsi), chomwe ndi chizindikiro chachikulu cha matenda.
Matendawa adafotokozedwa koyamba mu 1962 ndi madokotala awiri: RS Jampel (neuro-ophthalmologist) ndi O. Schwartz (dokotala wa ana). Anawona ana awiri - mchimwene wake ndi mlongo wazaka 6 ndi 2. Anawo anali ndi zizindikiro za matendawa (blepharophimosis, mizere iwiri ya eyelashes, kupunduka kwa mafupa, ndi zina zotero), zomwe olembawo ankagwirizana ndi zolakwika za chibadwa.
Chothandizira chachikulu pa phunziro la matendawa chinapangidwa ndi katswiri wina wa minyewa D. Aberfeld, yemwe adawonetsa chizolowezi cha matenda kuti apite patsogolo, komanso amayang'ana kwambiri zizindikiro za ubongo. Pankhani imeneyi, nthawi zambiri pali mayina a matenda monga: Schwartz-Jampel syndrome, myotonia chondrodystrophic.
Schwartz-Jampel syndrome amadziwika ngati matenda osowa. Matenda osowa nthawi zambiri amakhala matenda omwe amapezeka osaposa 1 mlandu pa 2000 anthu. Kuchuluka kwa matendawa ndi mtengo wachibale, popeza moyo wa odwala ambiri ndi waufupi, ndipo matendawa ndi ovuta kwambiri ndipo nthawi zambiri amapezeka ndi madokotala omwe alibe chidziwitso chokhudza cholowa cha neuromuscular pathology.
Zatsimikiziridwa kuti nthawi zambiri matenda a Schwartz-Jampel amapezeka ku Middle East, Caucasus ndi South Africa. Akatswiri amati zimenezi n’zakuti m’mayiko amenewa muli maukwati ogwirizana kwambiri kuposa amene ali padziko lonse lapansi. Pa nthawi yomweyo, jenda, zaka, mtundu alibe mphamvu pa pafupipafupi zochitika za matenda chibadwa.
Zomwe Zimayambitsa Schwartz-Jampel Syndrome
Zomwe zimayambitsa matenda a Schwartz-Jampel ndizovuta za majini. Zimaganiziridwa kuti matenda a neuromuscular amatsimikiziridwa ndi cholowa cha autosomal recessive.
Malingana ndi phenotype ya syndrome, akatswiri amazindikira zifukwa zotsatirazi za chitukuko chake:
Mtundu wapamwamba wa Schwartz-Jampel syndrome ndi mtundu 1A. Cholowa chimapezeka molingana ndi mtundu wa autosomal recessive, kubadwa kwa mapasa ndi matenda awa ndizotheka. Jini la HSPG2, lomwe lili pa chromosome 1p34-p36,1, limasintha. Odwala amapanga mapuloteni osinthika omwe amakhudza magwiridwe antchito a zolandilira zomwe zili mumitundu yosiyanasiyana, kuphatikiza minofu. Puloteni imeneyi imatchedwa perlecan. Mu mtundu wakale wa matendawa, mutated perlecan amapangidwa molingana ndi kuchuluka kwake, koma amagwira ntchito molakwika.
Schwartz-Jampel syndrome mtundu 1B. Cholowa chimapezeka mwa njira ya autosomal recessive, jini yomweyi pa chromosome yomweyi, koma perlecan sinapangidwe mokwanira.
Matenda a Schwartz-Jampel amtundu wa 2. Cholowa chimapezekanso mwa njira ya autosomal recessive, koma null LIFR jini, yomwe ili pa chromosome 5p13,1, imasintha.
Komabe, chifukwa chomwe minofu ya Schwartz-Jampel syndrome imagwira ntchito nthawi zonse panthawiyi sichimveka bwino. Zimakhulupirira kuti mutated perlecan imasokoneza ntchito ya maselo a minofu (zigawo zawo zapansi), koma kupezeka kwa matenda a chigoba ndi minofu sikunafotokozedwebe. Kuonjezera apo, matenda ena (Stuva-Wiedemann syndrome) ali ndi zizindikiro zofanana ndi zofooka za minofu, koma perlecan sichikhudzidwa. Kumbali iyi, asayansi akupitirizabe kufufuza mwakhama.
Zizindikiro za Schwartz-Jampel Syndrome
Zizindikiro za Schwartz-Jampel syndrome zidasiyanitsidwa ndi malipoti onse omwe amapezeka mu 2008.
Chithunzi chachipatala chimadziwika ndi izi:
Kutalika kwa wodwalayo kuli pansi pa avareji;
Kutalika kwa tonic minofu spasms yomwe imachitika pambuyo poyenda mwaufulu;
Nkhope yachisanu, "yachisoni";
Milomo imapanikizidwa mwamphamvu, nsagwada zapansi ndizochepa;
Mitsempha ya palpebral ndi yopapatiza;
Tsitsi ndilochepa;
Nkhope ndi yophwanyika, pakamwa ndi pang'ono;
Kusuntha kwapakati kumakhala kochepa - izi zimagwira ntchito pamagulu a interphalangeal a mapazi ndi manja, msana wa msana, ziwalo za chikazi, ziwombankhanga za dzanja;
Kuthamanga kwa minofu kumachepetsedwa;
Minofu ya chigoba ndi hypertrophied;
Gome la vertebral limafupikitsidwa;
Khosi ndi lalifupi;
Anapezeka ndi chiuno dysplasia;
Pali matenda osteoporosis;
Mipando ya mapazi ndi yopunduka;
Mawu a odwala ndi owonda ndi okwera;
Masomphenya amawonongeka, kupasuka kwa palpebral kumafupikitsidwa, zikope zakunja kwa diso zimasakanikirana, cornea ndi yaying'ono, nthawi zambiri pamakhala myopia ndi ng'ala;
Eyelashes ndi wandiweyani, wautali, kukula kwawo kumasokonezeka, nthawi zina pali mizere iwiri ya eyelashes;
Makutu aikidwa pansi;
Nthawi zambiri chophukacho amapezeka ana - inguinal ndi umbilical;
Anyamata ali ndi machende ang'onoang'ono;
The kuyenda ndi waddling, bakha, nthawi zambiri pali clubfoot;
Pakuima ndi kuyenda, mwanayo ali mu theka-squat;
Kulankhula kwa wodwalayo kumakhala kosavuta, kosamveka, kutulutsa malovu ndi khalidwe;
Mphamvu zamaganizo zimasokonezeka;
Pali kuchedwa kwa kukula ndi chitukuko;
Zaka za mafupa ndizocheperapo kuposa zaka za pasipoti.
Kuphatikiza apo, zizindikiro za Schwartz-Jampel syndrome zimasiyana malinga ndi phenotype ya matendawa:
Phenotype 1A ndi chizindikiro
1A phenotype imadziwika ndi kuwonekera koyambirira kwa matendawa. Izi zimachitika asanakwanitse zaka 3. Mwanayo ali ndi vuto lomeza komanso kupuma pang'ono. Pali mgwirizano pamagulu, omwe amatha kukhalapo kuyambira kubadwa ndikupezedwa. M'chiuno wodwalayo ndi lalifupi, kyphoscoliosis ndi anomalies ena mu chitukuko cha mafupa amatchulidwa.
Kuyenda kwa mwanayo kumakhala kochepa, komwe kumafotokozedwa ndi zovuta pochita mayendedwe. Nkhopeyo imakhala yosasunthika, imakumbukira chigoba, milomo imakanizidwa, pakamwa ndi pang'ono.
Minofu ndi hypertrophied, makamaka minofu ya ntchafu. Pochiza ana omwe ali ndi maphunziro apamwamba a Schwartz-Jampel syndrome, munthu ayenera kuganizira za chiopsezo chachikulu chokhala ndi vuto loletsa kupweteka, makamaka hyperthermia yoopsa. Zimapezeka mu 25% ya milandu ndipo zimapha 65-80% ya milandu.
Kusokonezeka m'maganizo kumayambira pang'ono mpaka pang'ono. Panthawi imodzimodziyo, 20% ya odwala oterewa amadziwika kuti ndi osokonezeka m'maganizo, ngakhale pali mafotokozedwe a zochitika zachipatala pamene nzeru za anthu zinali zapamwamba kwambiri.
Kuchepa kwa myotonic syndrome kumawonedwa mukatenga Carbamazepine.
Phenotype 1B ndi chizindikiro
Matendawa amayamba ali wakhanda. Zizindikiro zachipatala ndizofanana ndi zomwe zimawonedwa mumitundu yakale ya matendawa. Kusiyana kwake ndikuti amatchulidwa kwambiri. Choyamba, izi zimakhudzana ndi vuto la somatic, makamaka kupuma kwa wodwalayo.
Chigoba anomalies kwambiri kwambiri, mafupa ndi opunduka. Maonekedwe a odwala amafanana ndi odwala Knist syndrome (ofupikitsidwa torso ndi miyendo yapansi). Kudziwiratu kwa phenotype ya matendawa sikuli bwino, nthawi zambiri odwala amamwalira ali aang'ono.
Phenotype 2 ndi chizindikiro
Matendawa amaonekera pa kubadwa kwa mwana. Mafupa aatali ndi opunduka, kukula kwake kumachepetsedwa, njira ya matenda ndi yovuta.
Wodwala sachedwa fractures pafupipafupi, minofu kufooka, kupuma ndi kumeza matenda ndi khalidwe. Ana nthawi zambiri amakhala mowiriza malignant hyperthermia. Matendawa ndi oipa kuposa phenotypes 1A ndi 1B, matendawa nthawi zambiri amatha ndi imfa ya wodwala ali wamng'ono.
Makhalidwe a matenda a matendawa ali mwana:
Pafupifupi, matendawa amayamba m'chaka choyamba cha moyo wa mwana;
Mwanayo amavutika kuyamwa (amayamba kuyamwa pakapita nthawi inayake atalumikizidwa ku bere);
Ntchito zamagalimoto ndizochepa;
Zingakhale zovuta kuti mwana atenge nthawi yomweyo chinthu chimene wagwira m'manja mwake;
Kukula kwanzeru kumatha kusungidwa, kuphwanya kumawonedwa mu 25% yamilandu;
Ambiri mwa odwala bwinobwino maphunziro a sukulu, ndi ana amapita ku bungwe lonse maphunziro, osati apadera maphunziro mabungwe.
Kuzindikira kwa Schwartz-Jampel Syndrome
Kuzindikira kwa Perinatal kwa Schwartz-Jampel syndrome ndikotheka. Pazifukwa izi, ultrasound ya mwana wosabadwayo imagwiritsidwa ntchito, pomwe ma skeletal anomalies, polyhydramnios, ndi kusayenda bwino kwa kuyamwa kumawonedwa. Matenda obadwa nawo amatha kuwonetsedwa pa masabata 17-19 a mimba, komanso kufupikitsa kapena kupunduka kwa chiuno.
Kusanthula kwachilengedwe kwa seramu yamagazi kumapereka kuwonjezeka pang'ono kapena pang'ono kwa LDH, AST ndi CPK. Koma motsutsana ndi maziko odzipangira okha kapena kukwiyitsa hyperthermia yoyipa, mulingo wa CPK umakula kwambiri.
Kuwunika kusokonezeka kwa minofu, electromyography ikuchitika, ndipo kusintha kudzaonekera pamene mwanayo afika miyezi isanu ndi umodzi. A minofu biopsy ndi zotheka.
Kyphosis ya msana, osteochondrodystrophy amapezeka ndi X-ray. Zotupa za musculoskeletal system zimawonekera bwino pa MRI ndi CT. Ndi njira ziwiri zowunikira zomwe zimagwiritsidwa ntchito nthawi zambiri ndi madokotala amakono.
Ndikofunikira kupanga kusiyana kosiyana ndi matenda monga: matenda a Knist, Pyle's disease, Rolland-Desbuquois dysplasia, congenital myotonia ya mtundu woyamba, Isaacs syndrome. Kusiyanitsa ma pathologies amalola njira yamakono yodziwira ngati genetic DNA typing.
Chithandizo cha Schwartz-Jampel Syndrome
Pakalipano, palibe chithandizo chamankhwala cha matenda a Schwartz-Jampel. Madokotala amalimbikitsa kuti odwala azitsatira zochitika za tsiku ndi tsiku, achepetse kapena athetseretu kupsinjika kwa thupi, chifukwa ndicho chinthu champhamvu kwambiri chomwe chimapangitsa kuti matendawa apitirire.
Ponena za kukonzanso kwa odwala, ntchitozi zimasankhidwa payekha ndipo zidzasiyana malinga ndi gawo la matendawa. Odwala tikulimbikitsidwa physiotherapy ntchito ndi dosed ndi wokhazikika zolimbitsa thupi.
Ponena za zakudya, muyenera kusiya zakudya zomwe zili ndi mchere wambiri wa potaziyamu m'magulu awo - izi ndi nthochi, ma apricots zouma, mbatata, zoumba, etc. Zakudya ziyenera kukhala zolimbitsa thupi, mavitamini ndi fiber. Zakudya ziyenera kuperekedwa kwa wodwala mu mawonekedwe a puree, mu mawonekedwe amadzimadzi. Izi zimachepetsa zovuta za kutafuna chakudya zomwe zimachitika chifukwa cha minofu ya nkhope ndi masticatory minofu. Kuonjezera apo, munthu ayenera kudziwa za chiopsezo cha kupuma kwa mpweya ndi bolus chakudya, zomwe zingayambitse chitukuko cha aspiration chibayo. Komanso, kukula kwa matendawa kumakhudzidwa ndi kugwiritsa ntchito zakumwa zoziziritsa kukhosi ndi ayisikilimu, kusamba m'madzi ozizira.
Ubwino wa physiotherapy pochiza matendawa sayenera kunyalanyazidwa.
Schwartz-Jampel. Ntchito zoperekedwa kwa physiotherapist:
Kuchepetsa kuopsa kwa mawonetseredwe a miotic;
Kuphunzitsa kwa extensor minofu ya miyendo ndi manja;
Kuyimitsa kapena kuchepetsa mapangidwe a mafupa ndi minofu.
Kusambira kosiyanasiyana (mchere, mwatsopano, coniferous) kwa mphindi 15 tsiku lililonse kapena tsiku lililonse kuli kothandiza. Zothandiza ndi malo osambira am'deralo ndikuwonjezeka pang'onopang'ono kwa kutentha kwa madzi, ozocerite ndi ntchito za parafini, kukhudzana ndi kuwala kwa infrared, kutikita minofu ndi njira zina.
Malangizo okhudza chithandizo cha spa ndi awa: kupita kumadera omwe nyengo yake ili pafupi kwambiri ndi momwe wodwalayo amakhalamo, kapena kuyendera madera omwe ali ndi nyengo yochepa.
Pofuna kuchepetsa kuopsa kwa zizindikiro za matendawa, mankhwala otsatirawa akuwonetsedwa:
Mankhwala a antiarrhythmic: Quinine, Diphenine, Quinidine, Quinora, Cardioquin.
Acetazolamide (Diacarb), yotengedwa pakamwa.
Anticonvulsants: Phenytoin, Carbamazepine.
Poizoni wa botulinum amaperekedwa pamutu.
Kudya kwa minofu kumasungidwa ndi kutenga vitamini E, selenium, taurine, coenzyme Q10.
Ndi chitukuko cha mayiko awiri blepharospasm ndi pamaso pa mayiko awiri ptosis, odwala tikulimbikitsidwa ophthalmic opaleshoni. Kupunduka kwa mafupa opita patsogolo, kuchitika kwa contractures - zonsezi zimapangitsa kuti odwala azichita maopaleshoni angapo a mafupa. Chifukwa chiopsezo kukhala zilonda hyperthermia ali mwana, mankhwala kutumikiridwa rectally, pakamwa kapena intranasally. Opaleshoni mosalephera kumafuna kuyambika sedation ndi barbiturates kapena benzodiazepines.
Maphunziro akale a matendawa molingana ndi phenotype 1A alibe mphamvu yayikulu pautali wa moyo wa wodwalayo. Chiwopsezo chokhala ndi mwana m'banja lomwe lili ndi mbiri yolemetsa ndi 25%. Odwala amafunika chithandizo chamaganizo ndi chikhalidwe. Kuonjezera apo, wodwalayo ayenera kutsogoleredwa ndi akatswiri monga: geneticist, cardiologist, nephrologist, anesthesiologist, orthopedist, dokotala wa ana. Ngati pali vuto la kulankhula, ndiye kuti makalasi omwe ali ndi matenda olankhula-defectologist akuwonetsedwa.