Zizindikiro, Zimayambitsa ndi Chithandizo cha Matendawa Achibadwa
Matenda a Schwartz-Jampel (SJS) ndi matenda omwe sakhala nawo, omwe amabadwa nawo omwe amachititsa kusokonezeka kwa mitsempha ya mafupa.
Zina mwa zovuta zomwe zimayambitsa matendawa ndi izi:
- Myotonic myopathy (minofu yofooka ndi kuuma)
- Bone dysplasia (pamene mafupa sakukula bwino)
- Mikangano yolumikizana (ziwalo zimakhazikitsidwa m'malo, kulepheretsa kusuntha)
- Chilombo (msinkhu)
SJS amaonedwa kuti ndizovuta kwambiri, zomwe zikutanthauza kuti munthu ayenera kulandira majeremusi awiri ofooka, mmodzi kuchokera kwa kholo lililonse, kuti akule matenda.
Mitundu ya Schwartz-Jampel Syndrome
Pali mitundu ingapo ya matenda a Schwartz-Jampel. Mtundu Woyamba, womwe umaganiziridwa ndi mtundu wamakono, uli ndi magawo awiri omwe amawoneka kuti ali ndi kachilombo koyipa pa chromosome 1:
- Lembani IA ikuwonekera patapita nthawi muunyamata ndipo ndizochepa.
- Mtundu wa IB ukuwonekera nthawi yomweyo pamene wabadwa ndipo uli ndi zizindikiro zambiri.
Matenda a Schwartz-Jampel Mtundu Wachiwiri ukuwonekera pomwepo panthawi yobadwa. Zili ndi zizindikiro zosiyana ndi IA kapena IB ndipo sizigwirizana ndi vuto lililonse la jini pa chromosome imodzi.
Choncho, akatswiri ambiri amakhulupirira kuti mtundu wachiwiri ndi matenda omwewo monga Stuve-Wiedermann matenda-matenda osadziwika ndi oopsa omwe amakhala ndi imfa ya miyezi ingapo yoyambirira ya moyo, makamaka chifukwa cha kupuma.
Momwemo, mtundu wa I ndidzakhala patsogolo pa nkhaniyi.
Zizindikiro za SJS
Chizindikiro chachikulu cha matenda a Schwartz-Jampel ndi kuuma kwa minofu. Kuuma kotereku kuli kofanana ndi matenda a Stiff-person kapena Isaacs , koma kuuma kwa matenda a Schwartz-Jampel sikuthandizidwa ndi mankhwala kapena kugona. Zizindikiro zina za SJS zingaphatikizepo:
- Kanthawi kochepa
- Maonekedwe a nkhope, mapepala apang'onopang'ono, ndi nsagwada yaing'ono
- Zowonongeka zofanana monga khosi lalifupi, kutuluka kwa msana (kyphosis), kapena kutulutsa chifuwa (pectus carinatum, chomwe chimatchedwanso "nkhunda yamphongo")
- Zosaoneka bwino za mafupa ndi khunyu kukula (ichi chimatchedwa chondrodystrophy)
- Anthu ambiri omwe ali ndi SJS amakhalanso ndi maso ambirimbiri, omwe amachititsa kuvutika kwa maonekedwe osiyanasiyana
Ndikofunika kumvetsetsa kuti vuto lililonse la SJS ndilopadera ndipo limasiyana mosiyana ndi zizindikiro zake, malinga ndi mtundu wa matendawa.
Mmene Chikhalidwe Chakudziwira
SJS kawirikawiri imawonekera pazaka zochepa za moyo, nthawi zambiri pamene abereka. Makolo angaone kuti minofu yolimba ya mwanayo ikasintha, mwachitsanzo. Kuumitsa uku ndi nkhope kumakhala kofala kwa matenda omwe nthawi zambiri amawunikira.
Maphunziro ena monga x-rays, chifuwa cha mitsempha, minofu ya mitsempha ya m'magazi, ndi mayesero amachitidwe a mitsempha ndi mitsempha mwa mwanayo adzachitidwa kuti atsimikizire zolakwika zomwe zikugwirizana ndi SJS. Kuyeza kwa majeremusi kwa jini yosavomerezeka pa chromosome 1 (HSPG2 jini) ikhoza kutsimikiziranso kuti matendawa ndi otani.
Nthawi zina, kugwiritsidwa ntchito kwa SJS kungabwereke pokhapokha pogwiritsa ntchito ultrasound kuona ngati mwanayo ali ndi makhalidwe omwe amasonyeza SJS kapena zina zosafunikira.
Zifukwa za Schwartz-Jampel Syndrome
Popeza kuti SJS imakhala ndi cholowa chodziwika bwino, ngati munthu wabadwa ndi matenda onse a makolo ake amanyamula chibadwa chosowa. Mwana aliyense wamtsogolo omwe makolo awa ali nawo adzakhala ndi mwayi umodzi mwa kubadwa ndi matenda. Kawirikawiri, SJS imakhulupirira kuti imachokera muyeso ya autosomal. M'mayeserowa, kagawo kamodzi kokha kamene kamayenera kulandira kuti adziwonetsere.
Kwachidziwikire, SJS ndi matenda osadziwika omwe ali ndi milandu 129 yokha, malinga ndi lipoti la Advanced Biomedical Research . SJS safupikitsa moyo wautali, ndipo amuna ndi akazi amakhudzidwa mofanana ndi matendawa.
SJS mtundu wachiwiri (wotchedwa Stuve-Wiedermann syndrome) umawonekera kukhala wamba kwambiri mwa anthu a ku United Arab Emirates.
Kuchiza kwa Schwartz-Jampel Syndrome
Palibe chithandizo cha matenda a Schwartz-Jampel, kotero mankhwala amayamba kuchepetsa zizindikiro za matendawa. Mankhwala omwe amathandiza mu matenda ena a minofu, monga mankhwala osokoneza bongo Tegretol (carbamazepine) ndi mankhwala otsutsa-arrhythmic mexiletine angakhale othandiza.
Komabe, kuuma kwa minofu mu Schwartz-Jampel matenda kungapitirire pang'onopang'ono pakapita nthawi, kotero kugwiritsa ntchito njira zina osati mankhwala kungakhale kosavuta. Izi zimaphatikizapo minofu ya minofu, kutentha, kutambasula, ndi kutenthetsa usanayambe kuchita masewera olimbitsa thupi.
Kuchita opaleshoni kuthandiza kuchiza kapena kukonza zinthu zosafunika, monga mgwirizano wamagulu, kyphoscoliosis (kumene msana umatha mosavuta) ndipo hip dysplasia ikhoza kukhala mwayi kwa odwala ena a SJS. Kwa ena, opaleshoni kuphatikizapo mankhwala opatsirana angakuthandizeni kuti muyambe kuyenda ndi kuchita zochitika zina mwachindunji.
Mavuto a maso ndi maso, opaleshoni, magalasi okonzekera, ma lenseni, Botox (chifukwa cha khungu), kapena njira zina zothandizira zingathandize kusintha masomphenya.
Zotsatira:
Ault J. (2014). eMedicine: Schwartz-Jampel matenda.
Basiri K, Fatehi F, Katirji B. Matenda a Schwartz-Jampel: Lipoti la nkhani ndi kuwerengera mabuku. Adv Biomed Res. 2015; 4: 163.
Begam MA. Alsafi W, Bekdache GN, Chedid F, Al-Gazali L, Mirghani HM. Matenda a Wiedemann: chigoba cha dysplasia chodziwika ndi mafupa ochuluka. Chotsitsa cha Ultrasound Gynecol. 2011 Nov; 38 (5): 553-8.
National Organisation for Disorder Disorders. (2016). Schwartz-Jampel Syndrome.