Zamkatimu
Shereshevsky Turner syndrome - Ichi ndi matenda a chromosomal, omwe amawonetsedwa muzovuta zakukula kwa thupi, mu ubwana wogonana komanso waufupi. Chifukwa cha matenda a genomic ndi monosomy, ndiko kuti, munthu wodwala amakhala ndi X chromosome imodzi yokha.
Matendawa amayamba ndi gonadal dysgenesis, yomwe imachitika chifukwa cha zovuta za X chromosome. Malinga ndi ziwerengero, kwa ana 3000 obadwa kumene, mwana mmodzi adzabadwa ndi matenda a Shereshevsky-Turner. Ofufuzawo amawona kuti chiwerengero chenicheni cha matenda amtunduwu sichidziwika, chifukwa kupititsa padera kwadzidzidzi nthawi zambiri kumachitika mwa amayi kumayambiriro kwa mimba chifukwa cha matendawa. Nthawi zambiri, matendawa amapezeka mwa ana aakazi. Nthawi zambiri, matendawa amapezeka mwa ana obadwa kumene.
Synonyms Shereshevsky-Turner syndrome ndi mawu akuti "Ulrich-Turner syndrome", "Shereshevsky syndrome", "Turner syndrome". Asayansi onsewa athandizira nawo pa kafukufukuyu.
Zizindikiro za Turner Syndrome
Zizindikiro za Turner syndrome zimayamba kuonekera kuyambira pakubadwa. Chithunzi chachipatala cha matendawa ndi ichi:
Nthawi zambiri ana amabadwa asanakwane.
Ngati mwana wabadwa pa nthawi, ndiye kulemera kwa thupi lake ndi kutalika kwake zidzachepetsedwa poyerekeza ndi zikhalidwe zapakati. Ana otere amalemera kuyambira 2,5 kg mpaka 2,8 kg, ndipo kutalika kwa thupi lawo sikudutsa 42-48 cm.
Khosi la wakhanda limafupikitsidwa, pali makwinya kumbali zake. Muzamankhwala, matendawa amatchedwa pterygium syndrome.
Nthawi zambiri pa nthawi ya neonatal, zofooka za mtima za chikhalidwe chobadwa nacho, lymphostasis zimadziwika. Miyendo ndi mapazi, komanso manja a mwanayo, amatupa.
Njira yoyamwa mwa mwana imasokonezeka, pali chizolowezi chobwerezabwereza ndi kasupe. Pali kusakhazikika kwagalimoto.
Ndi kusintha kuchokera ku ukhanda kupita ku ubwana, pali kutsalira osati mu thupi komanso kukula kwa maganizo. Kulankhula, chidwi, kukumbukira kumavutika.
The mwana sachedwa zinabadwa otitis TV chifukwa chimene iye akufotokozera conductive kumva imfa. Otitis media nthawi zambiri amapezeka pakati pa zaka 6 ndi 35. Akakula, amayi amatha kumva pang'onopang'ono pang'onopang'ono, zomwe zimapangitsa kuti makutu asamve pambuyo pa zaka XNUMX ndi kupitilira apo.
Pakutha msinkhu, kutalika kwa ana sikudutsa 145 cm.
Maonekedwe a wachinyamata ali ndi mawonekedwe a matendawa: khosi ndi lalifupi, lophimbidwa ndi makutu a pterygoid, mawonekedwe a nkhope ndi osadziwika, aulesi, palibe makwinya pamphumi, mlomo wapansi ndi wokhuthala ndi sags (nkhope ya myopath). kapena nkhope ya sphinx). Tsitsi latsitsi limachepetsedwa, ma auricles ndi opunduka, chifuwa ndi chachikulu, pali kusakhazikika kwa chigaza ndi kutukuka kwa nsagwada zapansi.
Kuphwanya pafupipafupi kwa mafupa ndi mafupa. N'zotheka kuzindikira m'chiuno dysplasia ndi kupatuka kwa chigongono olowa. Nthawi zambiri, kupindika kwa mafupa a m'munsi mwendo, kufupikitsa zala 4 ndi 5 pamanja, ndi scoliosis.
Kusakwanira kupanga estrogen kumabweretsa chitukuko cha matenda osteoporosis, amenenso, kuchititsa zimachitika pafupipafupi fractures.
Kumwamba kwa gothic kumwamba kumathandizira kusintha kwa mawu, kupangitsa kamvekedwe kake kukhala kokwera. Pakhoza kukhala chitukuko chachilendo cha mano, chomwe chimafuna kuwongolera kwa orthodontic.
Pamene wodwalayo akukula, edema ya lymphatic imatha, koma imatha kuchitika panthawi yolimbitsa thupi.
Luntha laluntha la anthu omwe ali ndi matenda a Shershevsky-Turner siwowonongeka, oligophrenia sapezeka kawirikawiri.
Payokha, ndikofunikira kuzindikira kuphwanya magwiridwe antchito a ziwalo zosiyanasiyana ndi machitidwe amtundu wa Turner's syndrome: +
Kumbali ya ubereki, chizindikiro chachikulu cha matendawa ndi hypogonadism (kapena infantilism yogonana). 100% ya amayi amavutika ndi izi. Panthawi imodzimodziyo, palibe ma follicles m'mimba mwawo, ndipo iwonso amaimiridwa ndi ulusi wa minofu. The chiberekero ndi underdeveloped, kuchepetsedwa kukula wachibale ndi zaka ndi zokhudza thupi m'chizoloŵezi. Labia yaikulu imakhala yooneka ngati scrotum, ndipo labia minora, hymen ndi clitoris sizinakule bwino.
Munthawi yakutha msinkhu, atsikana amakhala ndi kutukuka kwa mammary glands okhala ndi nsonga zamabele, tsitsi ndi lochepa. Nthawi zimabwera mochedwa kapena sizimayambanso. Kusabereka nthawi zambiri kumakhala chizindikiro cha Turner's syndrome, komabe, ndi mitundu ina ya kusintha kwa majini, kuyambika ndi kubereka kumakhala kotheka.
Ngati matendawa apezeka mwa amuna, ndiye kuti pa gawo la ubereki ali ndi vuto pakupanga ma testicles ndi hypoplasia kapena cryptorchidism, anorchia, kuchepa kwambiri kwa testosterone m'magazi.
Kumbali ya mtima wamtima, nthawi zambiri pamakhala vuto la ventricular septal, ductus arteriosus yotseguka, aneurysm ndi coarctation ya aorta, matenda amtima.
Kumbali ya mkodzo, kuwirikiza kawiri kwa chiuno, stenosis ya mitsempha yaimpso, kukhalapo kwa impso yooneka ngati nsonga ya akavalo, ndi malo osawoneka bwino a mitsempha ya aimpso.
Kuchokera m'maso: strabismus, ptosis, khungu khungu, myopia.
Dermatological mavuto si zachilendo, mwachitsanzo pigmented nevi mu zedi, alopecia, hypertrichosis, vitiligo.
Kumbali ya m'mimba, pali chiopsezo chowonjezeka cha khansa ya m'matumbo.
Kuchokera ku endocrine system: Hashimoto's thyroiditis, hypothyroidism.
Kusokonezeka kwa metabolic nthawi zambiri kumayambitsa matenda amtundu wa XNUMX. Akazi amakonda kukhala onenepa.
Zomwe Zimayambitsa Turner Syndrome
Zomwe zimayambitsa matenda a Turner zimakhala m'ma genetic pathologies. Maziko awo ndi kuphwanya manambala mu X chromosome kapena kuphwanya dongosolo lake.
Kupatuka pakupanga X chromosome mu Turner syndrome kumatha kulumikizidwa ndi izi:
Nthawi zambiri, monosomy ya X chromosome imadziwika. Izi zikutanthauza kuti wodwalayo akusowa chromosome yachiwiri yogonana. Kuphwanya koteroko kumapezeka mu 60% ya milandu.
Zosiyanasiyana zamapangidwe mu X chromosome zimapezeka mu 20% ya milandu. Izi zitha kukhala kuchotsedwa kwa mkono wautali kapena waufupi, kusuntha kwamtundu wa X / X, kuchotsedwa kwapamanja kwa X chromosome yokhala ndi mawonekedwe a chromosome ya mphete, ndi zina zambiri.
Ena 20% ya milandu chitukuko cha Shereshevsky-Turner syndrome zimachitika mosaicism, ndiko kuti, kukhalapo mu minofu ya munthu wa maselo chibadwa osiyana mosiyanasiyana.
Ngati matenda amapezeka mwa amuna, ndiye chifukwa chake ndi mosaicism kapena translocation.
Panthawi imodzimodziyo, zaka za amayi apakati sizimakhudza chiopsezo chowonjezeka cha kubadwa kwa mwana wakhanda ndi Turner syndrome. Kusintha kwa kachulukidwe, kakhalidwe, komanso kapangidwe ka ma X chromosome kumachitika chifukwa cha kusiyana kwa ma chromosome. Pa nthawi yomwe ali ndi pakati, mayi amadwala toxicosis, ali ndi chiopsezo chachikulu chochotsa mimba komanso kubadwa msanga.
Chithandizo cha Turner's syndrome
Chithandizo cha Turner's syndrome cholinga chake ndikulimbikitsa kukula kwa wodwalayo, kuyambitsa mapangidwe azizindikiro zomwe zimatsimikizira jenda la munthu. Kwa amayi, madokotala amayesa kuyendetsa msambo ndikukwaniritsa kukhazikika kwake m'tsogolomu.
Akali ang'ono, chithandizo chimabwera mpaka kutenga ma vitamini complexes, kupita ku ofesi ya masseur, ndikuchita masewera olimbitsa thupi. Mwanayo ayenera kulandira zakudya zabwino.
Kuti muwonjezere kukula, chithandizo cha mahomoni chogwiritsa ntchito somatotropin tikulimbikitsidwa. Imayendetsedwa ndi jekeseni subcutaneously tsiku lililonse. Chithandizo cha Somatotropin chiyenera kuchitidwa mpaka zaka 15, mpaka kukula kumatsika mpaka 20 mm pachaka. Perekani mankhwala pogona. Mankhwalawa amalola odwala omwe ali ndi matenda a Turner's kukula mpaka 150-155 cm. Madokotala amalimbikitsa kuphatikiza mankhwala a mahomoni ndi mankhwala pogwiritsa ntchito anabolic steroids. Kuyang'aniridwa pafupipafupi ndi gynecologist ndi endocrinologist ndikofunikira, chifukwa chithandizo cha mahomoni ndikugwiritsa ntchito nthawi yayitali chingayambitse zovuta zosiyanasiyana.
Estrogen m'malo therapy imayamba pamene wachinyamata afika zaka 13. Izi zimakupatsani mwayi woyerekeza kutha msinkhu kwa mtsikana. Patapita chaka kapena chaka ndi theka, Ndi bwino kuyamba cyclic maphunziro kutenga estrogen-progesterone m`kamwa kulera. Chithandizo cha mahomoni chikulimbikitsidwa kwa amayi mpaka zaka 50. Ngati munthu akukumana ndi matendawa, ndiye kuti akulimbikitsidwa kutenga mahomoni achimuna.
Zowonongeka zodzikongoletsera, makamaka, zopindika pakhosi, zimachotsedwa mothandizidwa ndi opaleshoni ya pulasitiki.
Njira ya IVF imalola amayi kukhala ndi pakati poika dzira la donor kwa iye. Komabe, ngati ntchito yochepa ya ovary ikuwoneka, ndiye kuti n'zotheka kugwiritsa ntchito amayi kuti adyetse maselo awo. Izi zimakhala zotheka pamene chiberekero chikufika kukula kwake.
Ngati palibe vuto lalikulu la mtima, odwala omwe ali ndi matenda a Turner amatha kukhala ndi moyo mpaka ukalamba. Ngati mumatsatira dongosolo lachirengedwe, ndiye kuti zimakhala zotheka kupanga banja, kukhala ndi moyo wogonana komanso kukhala ndi ana. Ngakhale kuti odwala ambiri amakhalabe opanda ana.
Njira zopewera matendawa zimachepetsedwa kukaonana ndi geneticist komanso prenatal matenda.