Njira ya sayansi
Kulankhula momveka bwino, palibe kholo kapena inshuwalansi pazoopsazi. Aliyense wa ife amanyamula pafupifupi 10-12 majeremusi osalongosoka, omwe tinalandira kuchokera kwa achibale athu, mwinamwake, tidzapereka kwa ana athu omwe. Masiku ano, sayansi imadziwa matenda okwana 5,000, omwe amayamba chifukwa cha mavuto omwe ali ndi zida za munthu - m'magulu kapena ma chromosome.
Amagawidwa m'magulu akulu atatu: monogenic, polygenic ndi chromosomal.
Masiku ano pafupifupi zovuta zilizonse zingathe kufotokozedwa kuchokera kumbali ya ma genetic. Matenda a matumbo - chilema choloŵa cholowa cha chitetezo, cholelithiasis - matenda opatsirana amagazi.
Mitundu ya matenda
Matenda a monogenic amayamba ndi vuto la jini imodzi. Masiku ano, matenda oterowo pafupifupi 1400 amadziwika. Ngakhale kuti kufalikira kwawo kuli kochepa (5-10% mwa chiwerengero cha matenda obadwa nawo), iwo samatha kwathunthu. Ena mwa anthu ambiri ku Russia - cystic fibrosis, phenylketonuria, adrenogenital syndrome, g-lactosemia. Kuti adziwe matendawa, ana onse obadwa mdziko lathu akuyesedwa mayesero apadera (mwatsoka, palibe dziko lonse lapansi lomwe lingayang'anitse ana kuti akhalepo ndi majeremusi onse olakwika). Ngati kupotoka kwapezeka, mwanayo amasamutsidwa ku chakudya chapadera, chomwe chiyenera kuwonedwa asanakwanitse zaka 12, ndipo nthawi zina mpaka zaka 18. Ngati makolo odwala abadwa ana a thanzi, ndiye kuti ana onse omwe ali odwala adzakhala "opanda chilema".
Matenda a Polygen (kapena mavitamini osiyanasiyana) amagwirizana ndi kuphwanya kugwirizana kwa majini angapo, komanso zochitika zachilengedwe. Ili ndilo gulu lochulukirapo - limaphatikizapo 90% mwa matenda onse omwe anthu amabadwa nawo okhudzana ndi kupewa ndi kuchipatala.
Njira zotumizira
Kutumiza kwakukulu kwa matenda ndi mayi kapena abambo odwala. Ngati onsewa akudwala matendawa, chiwopsezo chikuwonjezeka kangapo. Komabe, ngakhale inu ndi mnzanu muli ndi thanzi labwino, pali majeremusi angapo olakwika m'thupi lanu. Iwo amangowonongeka ndi mwachibadwa ndi "chete." Mukakhala ndi jini lomwelo "lachete" ndi mwamuna wanu, ana anu akhoza kukhala ndi matenda obadwa nawo.
Cholowa chawo chiri mu matenda "ogwirizana ndi kugonana" - hemophilia, matenda a Günter. Amayang'aniridwa ndi majini omwe ali mu chromosome ya kugonana. Makolo a wodwalayo ali ndi mitundu yambiri ya upulumuki, zophuphuka zosalekeza (kuphatikizapo lipiritsi ndi pakamwa). Nthaŵi zina, makolo safalitsa matendawo, koma amakhala ndi matenda (shuga, matenda a mtima, uchidakwa). Ana amalandira mitundu yosiyanasiyana ya majeremusi, zomwe zimakhala zovuta (zovuta, zoopsa, zachilengedwe) zingayambitse chitukukochi. Ndipo pamene matendawa amachititsa kuti mayi kapena bambo adziwe matendawa, amakhala ndi chiopsezo chachikulu.
Matenda a chromosomal a munthu, kupewera ndi chithandizo chawo amapatsidwa nthawi yochuluka ndi khama, amayamba chifukwa cha kusintha kwa chiwerengero cha ma chromosome. Mwachitsanzo, vuto lodziwika kwambiri - Matenda a Down - ndi zotsatira za katatu ka chromosomes. Zosintha zoterezi sizodziwika kwambiri, zimapezeka m'mabuku asanu ndi limodzi. Matenda ena wamba ndi syndromes a Turner, Edwards, Patau. Zonsezi zimadziwika ndi zovuta zambiri: kuchedwa pa kukula kwa thupi, kutaya mtima, mtima, matenda, zoopsa ndi zina. Chithandizo cha zinthu zosakanikirana ndi chromosomal sichinapezeke.
mwanayo akhoza kukhala wathanzi, koma ngati mayiyo ndi chithandizo cha mutant gene, mwayi wobala mnyamata wodwala ndi 5%. Atsikana amabadwira wathanzi, koma theka lawo, limakhala loyang'anira jini lopanda vuto. Bambo wodwala samapatsira ana ake matendawa. Atsikana amatha kudwala kokha ngati mayiyo ali nawo.
Kuchokera Kumanda Aigupto
Farao Akhenaten ndi mfumukazi Nefertiti anthu akale ankawonekera mwachiwonekere. Zimatuluka, sizongokhala masomphenya ojambula a ojambulawo. Malingana ndi mawonekedwe a chigaza osadziwika bwino, "nsanja", maso ang'onoang'ono, miyendo yaitali kwambiri (yomwe imatchedwa "zala zamatsenga"), kansalu yopanda chitsime ("mbalame nkhope"), asayansi omwe amadziwika kuti Minkowski-Shafar syndrome, amodzi omwe amachititsa kuti magazi a magazi asatengedwe.
Kuchokera ku Mbiri Yachi Russia
Kuphwanya magazi (hemophilia) mwa mwana wamwamuna wotsiriza wa Russia Tsar Nicholas II Tsarevich Alexei nayenso ali wachibadwa. Matendawa amafalitsidwa kudzera mzere wa amayi, koma amawonetsedwa mwa anyamata okha. Zikuoneka kuti mwini woyamba wa jini ya hemophilia anali Mfumukazi Victoria wa Great Britain, agogo aakazi a Alexei.
Zovuta pakuzindikiritsa
Matenda achilengedwe samadziwonetsera okha kuyambira kubadwa. Mitundu ina ya kuchepa kwa maganizo imayang'ana kokha pamene mwana ayamba kulankhula kapena kupita kusukulu. Koma kugwedeza kwa Goettington (mtundu wa kupuma kwa maganizo) kungathe kudziwika kokha pambuyo pa zaka zambiri.
Kuonjezera apo, majini "osalankhula" angakhale zovuta. Zochita zawo zingawoneke pa moyo wawo wonse - pansi pa zochitika zapansi zolakwika (moyo wopanda thanzi, kutenga mankhwala osiyanasiyana, maizoni, kuipitsa chilengedwe). Ngati mwana wanu akugwera m'gulu loopsya, mungathe kuyeza ma maselo a maselo omwe angakuthandizeni kupeza chithandizo cha matendawa. Komanso, katswiri akhoza kupereka njira zothandizira. Ngati odwala ali ndi mphamvu, sitingapewe matendawa. Mungathe kuthetsa zizindikiro za matendawa. Chabwino, yesetsani kuwachenjeza musanabadwe.
Gulu la ngozi
Ngati inu ndi mnzanu muli ndi zina mwazifukwazi, ndibwino kuti mupitirize kulandira chithandizo chamankhwala musanayambe mimba.
1. Kukhalapo kwa milandu ingapo ya matenda obadwa nawo ku mizere yonse. Ngakhale mutakhala ndi thanzi labwino, mukhoza kukhala zonyamulira za majeremusi olakwika.
2. Age ndi zaka zoposa 35. Kwa zaka zambiri, chiwerengero cha kusintha kwa thupi m'thupi kukuwonjezeka. Kuopsa kwa matenda osiyanasiyana kumakula mozizwitsa. Choncho, ndi matenda a Down kwa amayi a zaka 16, ndi 1: 1640, kwa zaka 30 - 1: 720, kwa zaka 40 - kale 1:70.
3. Kubadwa kwa ana omwe apita kale ndi matenda aakulu.
4. Zochitika zingapo za kupititsa padera. Kaŵirikaŵiri, amachititsa kuti mwana asamakhale ndi vuto lalikulu la chibadwa kapena chromosomal.
5. Kudyetsa mankhwala kwa mayi (antiticonant, antithyroid, mankhwala osokoneza bongo, corticosteroids).
6. Kuyanjana ndi mankhwala oopsa ndi owononga, komanso uchidakwa ndi mankhwala osokoneza bongo. Zonsezi zingayambitse kusintha kwa majini.
Chifukwa cha chitukuko cha mankhwala, tsopano makolo onse ali ndi kusankha - kupitiriza mbiri ya banja la matenda aakulu kapena kusokoneza.
Njira zopewera
Ngati muli pachiopsezo, muyenera kukambirana ndi a geneticist. Malinga ndi chidziwitso chodziŵika bwino ndi deta ina, iye adzasankha ngati mantha anu ali olondola. Ngati dokotala akutsimikizira kuti ali ndi chiopsezo, muyenera kupita kuchipatala. Zidzatsimikizira ngati muli ndi zolakwa zoopsa.
Ngati ngozi yopanga mwana wodwala ndi yapamwamba kwambiri, akatswiri amalangiza mmalo mwa chilengedwe kuti azilowetsa mu vitro feteleza (IVF) ndi kusamalidwa kwa ma genetic diagnosis (PGD). PGD imalola selo limodzi kutengedwa kuchokera m'mimba kuti liwone ngati liri labwino kapena lodwala. Kenaka, mazira omwe ali ndi thanzi amasankhidwa ndipo amaikidwa m'chiberekero. Pambuyo pa IVF, kutenga mimba ndi 40% (kuposa njira imodzi yomwe mungafunike). Tiyenera kukumbukira kuti kuyesa kamwana kameneka kumapangidwira matenda enaake (omwe amadziwika kuti pasadakhale chiopsezo chachikulu). Izi sizikutanthawuza kuti mwana yemwe anabadwa kumapeto ali otsimikiziridwa pa matenda ena, kuphatikizapo matenda obadwa nawo. PGD ndi njira yovuta komanso yopanda mtengo, koma imagwira ntchito mwaluso.
Pakati pa mimba, m'pofunika kuyendera njira zonse zopangidwa ndi ultrasound ndikupereka magazi ku "mayeso katatu" (kuyesa kuchuluka kwa chiopsezo cha kukula kwa matenda). Ndi ngozi ya kusintha kwa chromosomal, chorionic biopsy ikhoza kuchitidwa. Ngakhale pali vuto lochotsa mimba, kugwiritsidwa ntchito koteroko kumapangitsa kudziŵa kukhalapo kwa chromosomal zosavomerezeka. Ngati atapezeka, mimba imalangizidwa kuti ikhale yosokonezeka.