Zamkatimu
Edwards syndrome - matenda achiwiri omwe amapezeka kwambiri pambuyo pa Down syndrome, omwe amagwirizanitsidwa ndi kusintha kwa chromosomal. Ndi Edwards syndrome, pali trisomy yathunthu kapena pang'ono ya chromosome ya 18, chifukwa chake kopi yake yowonjezera imapangidwa. Izi zimapangitsa kuti pakhale zovuta zingapo zomwe sizingasinthe m'thupi, zomwe nthawi zambiri sizigwirizana ndi moyo. Kuchuluka kwa zochitika za matendawa ndi chimodzi mwa ana 5-7, pamene ambiri akhanda omwe ali ndi chizindikiro cha Edwards ndi atsikana. Ofufuza amanena kuti ana aamuna amamwalira panthawi yobereka kapena pobereka.
Matendawa adafotokozedwa koyamba ndi katswiri wa geneticist Edwards mu 1960, yemwe adazindikira zizindikiro zopitilira 130 zomwe zimadziwika ndi matendawa. Edwards syndrome si cholowa, koma ndi zotsatira za masinthidwe, mwayi umene ndi 1%. Zomwe zimayambitsa matenda ndi kukhudzana ndi poizoni, kugwirizana pakati pa abambo ndi amayi, kukhudzana ndi chikonga ndi mowa panthawi yomwe ali ndi pakati ndi mimba, kukhudzana ndi zinthu zaukali.
Edwards Syndrome ndi matenda obadwa nawo okhudzana ndi kugawikana kwachilendo kwa ma chromosome, chifukwa chomwe kopi yowonjezera ya 18 chromosome imapangidwa. Izi kumabweretsa angapo chibadwa matenda, amene akuwonetseredwa ndi aakulu pathologies thupi monga kuchedwa maganizo, kobadwa nako mtima, chiwindi, chapakati mantha dongosolo, ndi minofu ndi mafupa kupunduka.
Chiwopsezo cha matendawa ndi chosowa kwambiri - 1: 7000 milandu, pomwe makanda ambiri omwe ali ndi matenda a Edwards samadutsa chaka choyamba cha moyo. Pakati pa odwala akuluakulu, ambiri (75%) ndi akazi, popeza ana aamuna omwe ali ndi matendawa amafa ngakhale pakukula kwa fetal, chifukwa chomwe mimba imathera padera.
Choopsa chachikulu cha chitukuko cha Edwards syndrome ndi zaka za amayi, popeza kusagwirizana kwa ma chromosome, komwe kumayambitsa matenda a fetal, nthawi zambiri (90%) amapezeka mu selo la majeremusi a amayi. 10% yotsala ya matenda a Edwards amalumikizidwa ndi kusamuka komanso kusasiyanitsidwa kwa ma chromosome a zygote panthawi yakupasuka.
Matenda a Edwards, monga Down syndrome, amapezeka kwambiri mwa ana omwe amayi awo amakhala ndi pakati pazaka zopitilira makumi anayi. (Werenganinso: Zomwe Zimayambitsa ndi Zizindikiro za Down Syndrome)
Kuti apereke chithandizo chamankhwala munthawi yake kwa ana omwe ali ndi vuto lobadwa nalo lomwe limayambitsidwa ndi vuto la chromosomal, ana obadwa kumene ayenera kuyang'aniridwa ndi cardiologist, neurologist, urologist ndi orthopedist. Atangobadwa, khanda liyenera kuyezetsa matenda, kuphatikizapo ultrasound ya m'chiuno ndi pamimba, komanso echocardiography kuti azindikire matenda a mtima.
Zizindikiro za Edwards Syndrome
The pathological njira ya mimba ndi chimodzi mwa zizindikiro zazikulu za kukhalapo kwa Edwards syndrome. Mwana wosabadwayo sagwira ntchito, sakwanira kukula kwa placenta, polyhydramnios, mtsempha umodzi wokha wa umbilical. Pobadwa, makanda omwe ali ndi matenda a Edwards amadziwika ndi kulemera kwa thupi, ngakhale kuti mimba idachedwa, asphyxia atangobadwa.
A angapo kobadwa nako pathologies a makanda Edwards syndrome kuti ambiri a iwo amafa mu masabata oyambirira a moyo chifukwa cha mavuto a mtima, zosatheka yachibadwa kupuma ndi chimbudzi. Atangobadwa, zakudya zawo zimayendetsedwa ndi chubu, chifukwa sangathe kuyamwa ndi kumeza, zimakhala zofunikira kuti mapapu apangidwe.
Zizindikiro zambiri zimawonekera ndi maso, choncho matendawa amapezeka nthawi yomweyo. Mawonetseredwe akunja a Edwards syndrome ndi awa: kufupikitsa sternum, clubfoot, kusuntha kwa chiuno ndi mawonekedwe achilendo a nthiti, kudumpha zala, khungu lophimbidwa ndi papillomas kapena hemangiomas. Kuphatikiza apo, ana obadwa kumene omwe ali ndi matendawa amakhala ndi mawonekedwe apadera a nkhope - mphumi yotsika, khosi lalifupi lokhala ndi khola lakhungu, pakamwa kakang'ono, mlomo wong'ambika, napex ndi microphthalmia; makutu aikidwa pansi, ngalande za m’makutu n’zopapatiza, makutu ndi opunduka.
Ana omwe ali ndi matenda a Edwards ali ndi vuto lalikulu la dongosolo la mitsempha - microcephaly, cerebellar hypoplasia, hydrocephalus, meningomyelocele ndi ena. malformations zonsezi kumabweretsa kuphwanya nzeru, oligophrenia, kwambiri idiocy.
Zizindikiro za matenda a Edwards ndi osiyanasiyana, matendawa ali ndi mawonetseredwe pafupifupi machitidwe onse ndi ziwalo - kuwonongeka kwa aorta, septa ya mtima ndi ma valve, kutsekeka kwa matumbo, fistulas, umbilical ndi inguinal hernias. Kuchokera ku genitourinary system mwa makanda aamuna, ma testicles osadziwika amakhala ofala, mwa atsikana - clitoral hypertrophy ndi chiberekero cha bicornuate, komanso matenda omwe amapezeka - hydronephrosis, kulephera kwaimpso, diverticula ya chikhodzodzo.
Zomwe Zimayambitsa Edwards Syndrome
Matenda a chromosomal omwe amatsogolera ku kutuluka kwa Edwards syndrome kumachitika ngakhale pa siteji ya mapangidwe a maselo a majeremusi - oogenesis ndi spermatogenesis, kapena amawoneka pamene zygote yopangidwa ndi maselo awiri a majeremusi saphwanyidwa bwino.
Kuopsa kwa Edward's syndrome ndi kofanana ndi zovuta zina za chromosomal, makamaka zofanana ndi za Down's syndrome.
Kuthekera kwa kupezeka kwa matenda kumawonjezeka mothandizidwa ndi zinthu zingapo, zomwe chimodzi mwazinthu zazikulu ndi zaka za mayi. Chiwopsezo cha matenda a Edwards ndi ambiri mwa amayi omwe amabereka azaka zopitilira 45. Kuwonekera kwa cheza kumabweretsa kusakhazikika kwa chromosomal, ndipo kumwa mowa mosalekeza, mankhwala osokoneza bongo, mankhwala osokoneza bongo, ndi kusuta zimathandizanso ku izi. Kupewa zizolowezi zoipa ndi kupewa kukhudzana ndi mankhwala aukali zinthu kuntchito kapena dera okhala tikulimbikitsidwa osati pa mimba, komanso miyezi ingapo pamaso pa mimba.
Kuzindikira kwa Edwards Syndrome
Kuzindikira kwake munthawi yake kumapangitsa kuzindikira matenda amtundu wa chromosomal koyambirira kwa mimba ndikusankha zoyenera kuzisunga, poganizira zovuta zonse zomwe zingachitike komanso kubadwa kwa mwana wosabadwayo. Kuyeza kwa ultrasound kwa amayi apakati sikupereka deta yokwanira kuti azindikire matenda a Edwards ndi matenda ena amtundu, koma angapereke zambiri zokhudza nthawi ya mimba. Kupatuka kwa chikhalidwe, monga polyhydramnios kapena kamwana kakang'ono, kumapangitsa kuti pakhale kafukufuku wowonjezera, kuphatikizapo amayi omwe ali m'gulu lachiwopsezo komanso kulamulira kowonjezereka pa nthawi ya mimba m'tsogolomu.
Kuyezetsa magazi asanabadwe ndi njira yothandiza yodziwira zolakwika adakali aang'ono. Kuwunika kumachitika m'magawo awiri, yoyamba yomwe imachitika pa sabata la 11 la mimba ndipo imakhala ndi kafukufuku wamagazi am'magazi. Deta pakuwopseza kwa Edwards syndrome mu trimester yoyamba ya mimba sizotsimikizika, kuti atsimikizire kudalirika kwawo, ndikofunikira kudutsa gawo lachiwiri la kuwunika.
Azimayi omwe ali pachiwopsezo cha matenda a Edwards amalangizidwa kuti akayezetse kuti atsimikizire kuti ali ndi matendawa, zomwe zimathandiza kupanga njira ina yamakhalidwe.
Zizindikiro zina zosonyeza kukula kwa matenda a Edwards ndi matenda a mwana wosabadwayo amene amadziŵika pa ultrasound, kuchuluka kwa amniotic fluid ndi thumba laling'ono la placenta, ndi agenesis ya mtsempha wa umbilical. Doppler data ya uteroplacental circulation, ultrasound ndi standard screening ingathandize kuzindikira matenda a Edwards.
Kuwonjezera pa zizindikiro za mkhalidwe wa mwana wosabadwayo ndi matenda a mimba, zifukwa zolembera mayi wamtsogolo mu gulu lachiwopsezo chachikulu ndi zaka zapakati pa 40-45 ndi zolemera kwambiri.
Kuti mudziwe momwe mwana wosabadwayo alili komanso mawonekedwe a nthawi ya mimba pa gawo loyamba la kuwunika, m'pofunika kupeza deta yokhudzana ndi mapuloteni a PAPP-A ndi magulu a beta a chorionic gonadotropin (hCG). HCG imapangidwa ndi mwana wosabadwayo, ndipo pamene ikukula, ndi placenta yozungulira mwana wosabadwayo.
Gawo lachiwiri likuchitika kuyambira sabata la 20 la mimba, lomwe limaphatikizapo kusonkhanitsa zitsanzo za minofu yowunikira histological. Magazi a chingwe ndi amniotic fluid ndizoyenera kwambiri pazifukwa izi. Panthawi imeneyi ya kuyezetsa kwa perinatal, ndizotheka kutsimikizira za karyotype ya mwana molondola. Ngati zotsatira za phunziroli ndi zoipa, ndiye kuti palibe vuto la chromosomal, apo ayi pali zifukwa zodziwira matenda a Edwards syndrome.
Chithandizo cha Edwards Syndrome
Monga momwe zimakhalira ndi matenda ena obadwa nawo chifukwa cha kusakhazikika kwa chromosomal, kuneneratu kwa ana omwe ali ndi matenda a Edwards kumakhala koyipa. Ambiri a iwo amamwalira atangobadwa kumene kapena m’masiku oŵerengeka, mosasamala kanthu za chithandizo chamankhwala choperekedwa. Atsikana amatha kukhala ndi moyo mpaka miyezi khumi, anyamata amamwalira mkati mwa miyezi iwiri kapena itatu yoyambirira. Ndi 1% yokha ya ana obadwa kumene amakhala ndi moyo mpaka zaka khumi, pomwe ufulu wodziyimira pawokha ndi kusintha kwa chikhalidwe cha anthu ndizosowa chifukwa cha kulumala kwakukulu kwa luntha.
Zambiri kupulumuka m'miyezi yoyamba odwala ndi mosaic mawonekedwe a syndrome, popeza kuwonongeka sikukhudza maselo onse a thupi. The mosaic mawonekedwe kumachitika ngati chromosomal sali bwino kunachitika pa siteji ya zygote magawano, pambuyo maphatikizidwe majeremusi amuna ndi akazi maselo. Ndiye selo limene munali nondisjunction ya ma chromosome, chifukwa cha trisomy inapangidwa, panthawi yogawanitsa imayambitsa maselo achilendo, omwe amayambitsa zochitika zonse za pathological. Ngati trisomy inachitika pa siteji ya gametogenesis ndi imodzi mwa maselo a majeremusi, ndiye kuti maselo onse a mwana wosabadwayo adzakhala achilendo.
Palibe mankhwala omwe angapangitse mwayi wochira, popeza sizingatheke kusokoneza mlingo wa chromosomal m'maselo onse a thupi. Chinthu chokhacho chomwe mankhwala amakono angapereke ndi chithandizo cha zizindikiro ndikusunga moyo wa mwanayo. Kuwongolera zochitika za pathological zomwe zimagwirizanitsidwa ndi Edwards syndrome zimatha kusintha moyo wa wodwalayo ndikutalikitsa moyo wake. Sikoyenera kuchitidwa opaleshoni chifukwa cha zovuta zobadwa nazo, chifukwa zimakhala ndi chiopsezo chachikulu pa moyo wa wodwalayo ndipo zimakhala ndi zovuta zambiri.
Odwala omwe ali ndi matenda a Edwards kuyambira masiku oyambirira a moyo ayenera kuwonedwa ndi dokotala wa ana, chifukwa ali pachiopsezo chachikulu cha matenda opatsirana. Mwa ana akhanda omwe ali ndi matendawa, conjunctivitis, matenda opatsirana a genitourinary system, otitis media, sinusitis, ndi chibayo ndizofala.
Makolo a mwana yemwe ali ndi matenda a Edwards nthawi zambiri amadandaula za funso ngati n'zotheka kuberekanso, ndizotheka bwanji kuti mimba yotsatira idzakhalanso ya pathological. Kafukufuku akutsimikizira kuti chiwopsezo cha kuyambiranso kwa matenda a Edwards m'banja lomwelo ndi chochepa kwambiri, ngakhale poyerekeza ndi kuthekera kwapakati pa 1% ya milandu. Mpata wokhala ndi mwana wina yemwe ali ndi matenda omwewo ndi pafupifupi 0,01%.
Kuti muzindikire matenda a Edwards panthawi yake, amayi oyembekezera amalangizidwa kuti aziyezetsa panthawi yomwe ali ndi pakati. Ngati ma pathologies apezeka mu gawo loyambirira la mimba, kudzakhala kotheka kuchotsa mimba pazifukwa zachipatala.