Matenda omwe amabwera chifukwa cha kuphwanya ma kromosomu omwe akusungirako chidziwitso cholowa chawo amapezeka pafupifupi 1% mwa makanda, pamene pafupifupi 20 peresenti ya kusokonekera koyambirira kwadzidzidzi amayamba chifukwa chokhala ndi ma chromosomes omwe sakhala achilendo. Matauwa a Patau ndi amodzi mwa chromosomal pathologies omwe sagwirizana ndi moyo wamba.
Patau Syndrome - kodi matendawa ndi chiyani?
Matenda a Patau amadziwika ndi kupezeka m'maselo a nambala ya chromosome yowonjezera khumi ndi zitatu, mwachitsanzo, Mmalo mwa ma chromosome ovomerezeka a mtundu uwu, pali zinthu zitatu zoterezi. Anomaly amatanthauzanso "trisomy 13". Kawirikawiri, maselo a chromosome m'maselo a thupi laumunthu (yachibadwa karyotype) amaimiridwa ndi zinthu 46 (awiri awiri), omwe awiri awiri ali ndi udindo wa kugonana. Powerenga karyotype m'maselo a magazi, kusintha kwa ma chromosomes omwe sakhudze thanzi lake kungathe kuwululidwa mwa munthu aliyense, koma amatha kudzimva yekha mwa ana.
Patau Syndrome - mtundu wa cholowa
Mukapezeka kuti ndi "Patau syndrome", karyotype imasonyezedwa ndi mtundu wa mtundu uwu: 47 XX (XY) 13+. Pankhani imeneyi, makope atatu a chromosome khumi ndi atatu akhoza kukhalapo m'maselo onse a thupi, nthawi zina ma chromosome amatha kupezeka m'maselo ena okha. Izi zimachitika chifukwa cha kulakwa kwa maselo kumayambiriro kwa chitukuko cha feteleza mutatha kulumikizana kwa dzira ndi umuna, zomwe zimachitika motsogoleredwa ndi zisonkhezero zamkati kapena zakunja. Komanso, chromosome yowonjezera ikhoza kubwera kuchokera kwa amayi ndi abambo, omwe alibe zolakwika zapachibadwa.
Kuonjezerapo, pali nthawi pamene nambala 13 ya chromosome ikhoza kugwiritsidwa ntchito ku chromosome ina mu dzira kapena umuna wa umuna, umene umatchedwa translocation. Imeneyi ndi njira yokhayo ya matenda a Patau omwe angaperekedwe kuchokera kwa mmodzi wa makolowo. Anthu omwe ali ndi zonyamulira zosinthika za majini ndi omwe samasonyeza zizindikiro za matenda angathe kuzipereka kwa ana omwe akubadwa odwala.
Kuopsa kwa trisomy 13
Matenda a Patau m'mimba mwa mwana wamwamuna nthawi zambiri ndi ngozi yoopsa, yomwe palibe amene amatha kudwala. Posachedwapa, mabanja ambiri akulimbikitsidwa kuchita karyotyping musanayambe kubereka, ngakhale kuti pangakhale chiopsezo chachikulu cha patau syndrome kapena zinthu zina zopanda chromosomal. Njira imeneyi imapangika ma chromosomes a mkazi ndi mwamuna, amasonyeza zolakwika zosiyanasiyana. Pang'ono ndi pang'ono, chifukwa chophunzira za genome ya makolo, ndizotheka kufotokoza ngati pali mwayi wa mtundu wa matenda obadwa nawo.
Mofanana ndi zina zambiri zomwe zimapangitsa kuti chromosomal ikhale yosavomerezeka, matenda omwe akugwiritsidwa ntchito nthawi zambiri amapezeka mwa ana omwe ali ndi amayi oposa zaka 35-45. Choncho, kumayambiriro kwa mimba kumatchulidwa ngati pali chiopsezo chachikulu cha Patau syndrome, amniocentesis ndi kuphunzira za maselo a fetal kuti akhalepo amtundu wa chibadwa. Kusanthula koteroko kumapangidwa mwa kugwiritsa ntchito mpata wa chiberekero cha uterine ndi kusonkhanitsa amniotic madzi ndi kukhalapo kwa maselo owonda a mwana.
Matau syndrome - nthawi zambiri zochitika
Karyotype, yomwe imakhala ndi matenda a Patau, imalembedwa kamodzi kwa ana asanu ndi awiri mphambu asanu ndi atatu (7-14,000) obadwa ali amoyo. Zomwe zimachitikira anyamata ndi atsikana ndi chimodzimodzi. Kuwonjezera apo, kutenga mimba ndi kutaya kwa mwanayo kumakhala gulu lomwe liri pangozi yaikulu yopititsa padera kapena kubereka. Pa mavoti 75%, makolo a ana omwe ali ndi matendawa alibe vuto lachromosomal, magawo otsalawa akugwirizana ndi choloŵa cholowa - chifukwa cha kusamutsidwa kwa nambala 13 ya chromosome ya translocalized kuchokera kwa kholo limodzi.
Patau Syndrome - zimayambitsa
Mitundu yomwe si yachibadwa ya matendawa ilibe zifukwa zomveka zoyambira, Kufufuza zinthu zopusa kumafuna kufufuza kovuta. Mpaka pano, sanakhazikitsidwe ngakhale pa nthawi yomwe kulephera kumachitika - pakupanga maselo a kugonana kapena pakupanga zygote. Zimakhulupirira kuti chromosome yowonjezera imakhala yovuta kuwerengera ma genome ndi maselo, omwe amalepheretsa kupanga mapangidwe apamwamba, kukhala opambana komanso omaliza pa kukula ndi kukula kwawo.
Asayansi amanena kuti chifukwa cha Patau syndrome chingagwirizane ndi zinthu izi:
- kuwonetsa ma radiation ionizing;
- zowopsa;
- matenda opatsirana;
- zovuta zachilengedwe;
- zizoloŵezi zoipa za amayi.
Matau syndrome - zizindikiro
Nthawi zina, sikuti chiwerengero cha maselo m'thupi chimakhudzidwa, sikuti chimatchulidwa kwambiri ndipo sikumangoyamba kusokonekera mwamsanga, koma nthawi zambiri zopotoka ndizofunikira. Komanso, kuwonjezera pa zolakwika zomwe zingathe kuwonedwa muchithunzichi, matenda a Patau amadziwika ndi ziphuphu zambiri za ziwalo. Zosintha zambiri sizingatheke.
Tiyeni tiwone zomwe zizindikiro za matenda a Patau ndi:
1. Ophatikizidwa ndi dongosolo lamanjenje:
- chocheperapo mutu;
- Kuphwanya mapangidwe a ubongo wa hemispheres;
- Kusiyana kwa chitukuko cha maganizo;
- kupweteka kwachitukuko;
- chosabala;
- kusowa kwa masomphenya;
- chowongolera;
- optic mitsempha hypoplasia;
- microphthalmia;
- gulu la retina.
2. Musculoskeletal, khungu zolakwika:
- kupukuta khosi;
- mawonekedwe osokoneza a auricles;
- kupotoza kwa mapazi;
- umbilical hernia;
- kusowa kwa khungu ndi tsitsi;
- Kukhalapo kwala zazing'ono pamanja kapena manja ndi miyendo kapena ziphuphu;
- malo osinthasintha a maburashi;
- mlatho wamphuno wotulukira;
- wolankhula pakamwa ;
- kumveka bwino .
3. Zizindikiro za urogenital:
- mapuloteni m'mphepete mwa impso;
- kusakaniza;
- zolakwika za mazira.
4. Zolakwika zina:
- zolepheretsa za masiku asanu ndi awiri;
- kusintha kwa ziwiya zazikulu;
- kusokonezeka kwa kusokonezeka kwa mahomoni;
- kusuntha kwa kapangidwe;
- kutembenuka kosatha kwa matumbo;
- mphala wambiri, ndi zina zotero.
Patau's syndrome - njira zochizira
Pambuyo pa kubadwa kwa mwana, matenda a Patau's syndrome sakhala ndi vuto lililonse mwa kuyang'anitsitsa zithunzi. Pofuna kutsimikizira kuti matendawa ndi otani, amayesedwa magazi kuti azindikire mtundu wa Patau syndrome, ultrasound. Kufufuza kwa majeremusi kumayambanso kumachitika ngati imfa ya makanda, yomwe imathandiza kuti mudziwe mtundu wa matendawa, kuti muwone ngati ndilo cholowa (zofunikira kuti pakhale kukonzekera kwa ana).
Syndrome Patau - kuyesedwa
Ndikofunika kwambiri kudziwa kuti panthawi yake kusokonekera kumayambiriro kwa mimba, zomwe zingatheke pafupifupi kumapeto kwa trimester yoyamba. Tisanayambe kubadwa kwa Trisomy 13 kromosome tikhoza kuona kuti maselo ochokera ku amniotic fluid (amniotic fluid) amapezeka pa amniocentesis kapena kuchokera ku maselo omwe amapezeka ndi chorion.
Kusanthula kwa amayi asanakwatire kungatheke pamene makolo ali pachiopsezo chokhala ndi chibadwa choloŵa cholowa komanso pofufuza za chidziwitso cholandira ana omwe ali ndi pakati. Nthaŵi zosiyana, njira zoterezi zimagwiritsidwa ntchito pofufuza kuchuluka kwa fulorosenti polymerase chain reaction method:
- kuchokera masabata 8 mpaka 12 - kutenga zochepa za chorion (embryonic membrane);
- kuyambira masabata 14 mpaka 18 - kusankhidwa kwa amniotic zamadzimadzi okhala ndi maselo a fetus kudzera mu khoma la peritoneum;
- patatha masabata makumi asanu ndi awiri (20) - kutuluka kwa mwazi wa umbilical.
Matenda a Patau pa ultrasound
Kuyambira ndi sabata lachisanu ndi chiwiri la mimba, zolephereka kukula m'thupi la mwana zingathe kudziwika ndi matenda opatsirana pogwiritsa ntchito ultrasound. Matau a Patau ali ndi zizindikiro zotsatirazi:
- polyhydramnios m'mayi oyembekezera ;
- mutu waung'ono wochepa mu fetus;
- zala zazing'ono kumapazi;
- kukulitsa kwa kolala yazitali;
- kuphulika kwa mtima, ndi zina zotero.
Kuchiza kwa matenda a Patau
N'zomvetsa chisoni kuti izi zingamveke, koma ana omwe ali ndi matenda a Patau akudwala, chifukwa sali odwala. sikutheka kukonza zosawonongeka za chromosomal. Syndrome Patau amatanthauza kuchuluka kwa idiocy, kulemala kwathunthu. Makolo omwe asankha kubereka mwana ali ndi vutoli ayenera kutsimikiza kuti adzafunikira chisamaliro ndi chithandizo nthawi zonse. Njira zopangira opaleshoni ndi mankhwala opangidwa ndi mankhwala angathe kuchitidwa kuti athetse kayendetsedwe kake ka machitidwe ndi ziwalo zofunika, opaleshoni ya pulasitiki, kupewa matenda ndi kutupa.
Matau's - matenda
Kwa ana omwe amapezeka ndi Patau's syndrome, nthawi zambiri moyo umakhala wosapitirira chaka chimodzi. Kawirikawiri ana oterewa amafa mu masabata oyambirira kapena miyezi yakubadwa atabadwa. Osafika pa 15% alionse amakhala ndi zaka zisanu, ndipo m'mayiko otukuka omwe ali ndi chithandizo chamankhwala, pafupifupi 2% mwa odwala amakhala ndi zaka khumi. Pachifukwa ichi, ngakhale odwala omwe alibe chiwonongeko chachikulu cha thupi, sangathe kudzilinganiza ndi kudziyang'anira okha.