Matenda ngati Shereshevsky-Turner matendawa amapezeka makamaka kwa atsikana ndipo amayamba m'miyezi itatu yoyamba ya mimba. Zimayambitsidwa ndi vuto la chromosomes, pamene zisokonezo za kugonana zimaphwanyidwa. Izi ndizosowa kwambiri, koma simungathe kuzichotsa.
Syndrome Shereshevsky-Turner - ndi chiyani?
Asayansi sanapezebe mgwirizano pakati pa thanzi la makolo ndi chitukuko cha matenda a mwana, monga matenda a Turner's. Amatchedwanso Ulrich's syndrome. Mkhalidwe wa mayi woyembekezera ndi wovuta kwambiri chifukwa choopsezedwa padera (iwo amapezeka mu trimestre yoyamba kapena yachiwiri), mawonekedwe oopsa a toxicosis, ndi kubadwa nthawi zambiri sakhala msanga ndipo amakhala ndi matenda.
Ana obadwa kumene amatha kugwira bwino ntchito, koma amakhala osowa. Pakuti matenda a Shereshevsky-Turner amadziwika ndi:
- kusintha m'magulu a mbali;
- pterygoid amapinda m'khosi;
- impso zimapangidwa ngati nsomba za akavalo.
Syndrome Shereshevsky-Turner - karyotype
Thupi la munthu limapangidwa m'mimba kuchokera ku selo limodzi, lotchedwa zygote. Amapangidwa pambuyo pa kusanganikirana kwa ma gametes 2 omwe amanyamula zidziwitso kwa makolo awo. Zamoyo zimenezi zimatsimikizira kuti m'tsogolo mwanayo adzakhala ndi chikhalidwe komanso thanzi labwino. Karyotype yachibadwa ikhoza kukhala ndi ma chromosomes, monga 46XX kapena 46XU. Ngati ndondomeko ya gametogenesis imasokonezeka, ndiye kuti kamwana kamene kamakhala ndi zolakwika pa chitukuko.
Karyotype ya odwala omwe ali ndi matenda a Shereshevsky-Turner ndi matenda aakulu pamene X chromosome ilibe kapena ikusowa. Kupotoka kumeneku kumaphatikizidwa ndi zovuta za kusintha kwa thupi, ndikuwonetsetsa kuti ziwalo zoberekera za mwanayo sizingatheke. Zilibe chiwalo cha gonads, pali chidziwitso cha ma thumba losunga mazira ndi vas deferens.
Syndrome Shereshevsky-Turner - nthawi zambiri zochitika
Matendawa anayamba kufotokozedwa mu 1925. Matenda a Shereshevsky-Turner amapezeka mwa msungwana wongobereka wa zikwi zitatu. Nthawi zambiri chiwerengero cha matendawa sichidziwike chifukwa cha kutha kwa mimba m'mabwalo atatu. Nthawi zambiri, vutoli limapangidwira anyamata.
Syndrome Shereshevsky-Turner - zomwe zimayambitsa
Poyankha funso lomwe limayambitsa matenda a Shereshevsky-Turner, m'pofunika kunena za vuto la chromosome ya X. Ngati izo zasinthidwa, ndiye mu thupi la mluza umachitika:
- kuchotsedwa kwa mkono wamtali kapena wamfupi;
- isochromosome X pa mkono wamfupi kapena wautali;
- translocation ya X / X;
- chonde X chromosome ndi zina zotero.
Zochitika zoterezi zimapezeka 20% mwazochitika pamene pali mosaicism, mwachitsanzo, 45, X0 / 46, XY kapena 45, X0 / 46, XX. Njira yothetsera matenda mwa amuna ikhoza kufotokozedwa ndi translocation. Kuopsa kwa matenda a Shereshevsky-Turner sikugwirizana ndi zaka za mayi wamtsogolo. Zitha kuchitika:
- chifukwa chophwanya mosayenera zygote;
- ndi kutayika kwa chromosome ya bambo.
Matenda a Shereshevsky-Turner - zizindikiro
Matendawa amatha kuwonekera kunja ndi kuntchito za ziwalo. Mukapezeka ngati matenda a Shereshevsky-Turner, zizindikiro zikhoza kukhala motere:
- malonda;
- mphukira ;
- hypogonadism;
- msinkhu (munthu wamkulu sangapitirire masentimita 150);
- kunenepa kwambiri;
- kusowa kwa phalanges;
- chiwerewere;
- Nthata imakula ndipo ili ndi mawonekedwe a mbiya;
- kupukuta khosi;
- mawonekedwe osamveka a maofesi okhudza kumva;
- epicanthus kapena ptosis (eyelid deformation);
- mawanga a pigment (vitiligo kapena nevi).
Mu ana obadwa kumene, mapazi, manja ndi khungu zimapindika pa khosi zimatha kuzizira, ndipo tsitsi silikula. Mafupa a nsagwada ndi ofooka, mlengalenga ndi okwera. Mu mtima wa aorta ndi kotheka, umadziwika, ndipo umphumphu wa septum wotsutsana umasokonezeka. Mkhalidwe wamaganizo ndi matenda monga Shereshevsky-Turner matenda sagwidwa, koma chidwi ndi lingaliro zimalephereka.
Mazira amayamba kukopeka, ndipo ziwalo zoberekera zimayamba bwino. Zilondazi zimalowetsedwa ndi ziwalo zomangika zomwe sizimapangitsa maselo ndi kusasitsa kwathunthu sikuchitika. Atsikana safutukula mabere, palibe msambo, chimbudzi choyambirira chimapezeka, kotero kubereka kulibe kwathunthu. Pali mitundu itatu ya dysgenisis: yoyera, yofiira komanso yosakanikirana. Iwo amasiyana mu mawonetseredwe a chipatala.
Syndrome Shereshevsky-Turner - matenda
Pamene mwana wam'tsogolo asakumane ndi X chromosome, ndiye kuti amatha kusamalitsa monosomy, matenda a Shereshevsky-Turner amavumbulutsidwa ndi a neonatologist mu chipatala cha amayi omwe ali ndi amayi omwe ali ndi amayi omwe ali ndi amayi odwala. Ngati zizindikiro zazikulu za matendawa siziripo, zindikirani kuti zikhoza kutha msinkhu. Akatswiri amapereka mayesero kwa:
- mahomoni omwe amadziwika kuti gonadotropins ndi estrogen;
- phunzirani karyotype.
Pa matenda a Shereshevsky-Turner matenda a wodwalayo ayenera kupita kwa ophthalmologist, nephrologist, opaleshoni ya mtima, katswiri wa zamagetsi, wamagulu otchedwa endocrinologist, a genetic, odwala matenda a m'magulu, azimayi / aroloist, ndi otolaryngologist. Kudziwa zolakwika zomwe madokotala amalemba:
- chithunzi chopangira maginito ;
- kuyesa ma impso ndi ziwalo zoberekera;
- electrocardiogram;
- mafilimu;
- kuyesa magazi;
- densitometry.
Matenda a Shereshevsky-Turner - mankhwala
Ndi matendawa, monga Turner matenda, chithandizo chimadalira chigawo cha Y-chromosome mu karyotype. Ngati atapezeka, msungwanayo amachotsedwa ndi mazira. Opaleshoniyi imachitidwa ali wamng'ono mpaka kufika pa zaka 20. Cholinga chake chachikulu ndikuteteza kupanga chotupa chachikulu. Ngati palibe jiniyi, mankhwalawa amatchulidwa.
Zimapangidwa zaka 16-18 ndipo cholinga chachikulu cha mankhwala ndi:
- kukula kwa makhalidwe achiwerewere achiwiri;
- kupewa kutayika kwa estrogen;
- kubwezeretsa kwa msambo ;
- kuchepa pa mlingo wa gonadotropins.
Odwala omwe ali ndi matenda a Shereshevsky-Turner amakhala ndi uphungu wamaganizo, komwe amathandizidwa kuti azitha kusintha pakati pa anthu ndi kusintha khalidwe la moyo. Ndili ndi matendawa, amayi ambiri amakhalabe osauka. Mankhwalawa makamaka akuwunikira:
- kuthetsa zolakwika kunja;
- malipiro a congenital malformations mu thupi;
- kukonza kukula;
- zovuta zamadzimadzi.
Moyo ndi matenda a Shereshevsky-Turner
Ngati matendawa amapezeka msinkhu ndipo chithandizochi chikuchitika nthawi, ndiye kuti kukula kwa mwana kumakhala kozolowereka. Mankhwala amakono amalola atsikana kukhala ndi ana awo, mwachitsanzo, IVF. Moyo ndi matenda a Turner uli ndi maulosi abwino. Odwala sagwidwa ndi vuto la maganizo, koma amavutika ndi ntchito zakuthupi ndi zovuta za thupi.
Anthu omwe ali ndi Turner's Syndrome
Matenda osavuta ndi matenda a Shereshevsky-Turner mosaic. Pankhani imeneyi, maselo ena aakazi ali ndi X chromosome imodzi, ndi zina zonse - ziwiri. Ana omwe ali ndi matendawa samakhala ndi zofooka zazikulu, ndipo kugonana komwe kumakhudzana ndi msambo sikunatchulidwe, kotero pali mwayi wokhala ndi mimba m'tsogolo. Maonekedwe a phenotype alipo, koma osati owala monga monosomy.
Matenda a Shereshevsky-Turner - chiyembekezo cha moyo
Ngati mukufuna kudziwa kuti matenda a Shereshevsky-Turner ndi otani, ndiye kuti izi sizikukhudzanso moyo. Chokhachokha chingakhale chiwalo cha mtima choyamba komanso matenda opatsirana. Ndi chithandizo chabwino ndi cha panthawi yake, odwala amatsogolera moyo wamba, amagonana nawo komanso amapanga mabanja.