Osalimba X Syndrome: zizindikiro, zizindikiro ndi chithandizo kamwedwe

Panopa mofulumira chitukuko cha mankhwala walola anthu kutsegula kwambiri za matenda sankadziwika. Wa zinthu zofunika kwambiri mu zaka mazana makumi awiri ankaimba mawu olembedwa a malamulo chibadwa, amene anapanga n'zotheka kudziwa zimene zimayambitsa ambiri majini ndi chromosomal kuvutika. Pali zoposa 3000 matenda okhudzana ndi kusintha kachulukidwe ndi Mkhalidwe m'nkhaniyo chibadwa. A matenda watsopano ndi osalimba X Syndrome, lomwe lili ndi anthu mwachilungamo mkulu wa kulemala mwana.

Martin Bella matenda - matenda kapena matenda a ubongo?

Osalimba X Syndrome - kobadwa nako chosayenerera kugwirizana ndi fragility la X khromozomu. Lingaliro la "fragility" amatanthauza kuchepetsa zakuthwa mapeto zithunzi za X khromozomu. kusintha zimenezi zikutsimikizira osalimba X Syndrome. Photos wa ana kumanzere limasonyeza backlog wa psychomotor chitukuko, zomwe amamuchititsa kudwala ana aang'ono.

zifukwa

Monga amadziwika, ndi genotype anthu nkwabwino - ndi 46 DNA awiri amene - kugonana X ndi Y. Mu akazi, motero, kuti asakhale ndi vutoli akonzedwa lidzaonekera - 46 XX, ndi amuna - 46 Hu. Izi onyamula mudziwe majini tichipeza unyolo kwa amino asidi wa kubwereza, amene anaika zokhudza kapangidwe ndi ntchito za tsogolo la zamoyo.

Matenda Martin Bella (osalimba X-khromozomu) akufotokozera chifukwa kusintha mu X khromozomu, choncho angathe kupweteka akazi ndi amuna onse. Kupatulira gawo X- khromozomu chifukwa kuwonjezeka pathological mu zatsalira zenizeni kwa amino asidi wa akubwereza - cytosine-guanine-guanine (C-G-T). kuphatikiza reps kumeneko kangapo majini ena, koma ndi kofunika kwenikweni, chiwerengero cha kubwereza. Mwachibadwa, izo ranges ku 29 31. Pankhani ya Martin-Bell syndrome kuti kuchuluka ndi zikuchepa chinawonjezeka ndi kumachitika ku nthawi 230 kwa 4000, imbaenda ndi kuwonjezeka khromozomu ndi kusokoneza ntchito kwa losokonekera makamaka - FMR1, amene ali ndi udindo uziyenda bwino ndiponso chitukuko cha mantha dongosolo. Zotsatira zimaonekera pakapita nthawi yochepa kubadwa ndipo anawonetseredwa psychomotor retardation.

Zosintha kusonyezedwa

chiwerengero cha kubwereza cytosine-guanine-guanine amachititsa embodiments matenda a matenda Martin-Bell. Matendawa akhoza kukhala mitundu chobisika. Ngati kafukufuku ukusonyeza akubwereza 55 200, pali premutation - kusintha malire kuti kupanga munthu chotengera, koma popanda kusintha kumaoneka ya ubongo. Mu zaka okhwima ndi zaka angathe ataxic syndrome ndi kulephera chachikulu yamchiberekero mu akazi. Mwina kufala kwa matendawa ndi mkulu. Ndalama Komanso wapakatikati boma - 40 60 nyukiliotayidi akubwereza, amene kukomoka akuwonetseredwa osati tinatengera akhoza kuoneka mu mibadwo ochepa.

Devolution

Chibadwa kunyamula matenda gulu la pathologies, kugonana zogwirizana, ndiye ndi X khromozomu. Anthu, matenda kumaonekera moonekera koposa, monga genotype awo muli X khromozomu. Akazi kudwala akufotokozera pa nkhani ya onse "pathological" X-autosomes. kawirikawiri, amuna akhoza premutatsionny njira ndi chonyamulira. Akazi kwambiri m'pamenenso kuchita ulamuliro vekitala, ndi chiphaso "pathological" khromozomu ndi Mwina ofanana aakazi onse ndi ana kuti. Odwala bambo angathe kupatsira X-khromozomu aakazi. Madalitso syndrome pang'onopang'ono kumawonjezera ku mibadwomibadwo, kuti anadziwika monga Sherman chododometsa. Njira matenda a matenda ndi chimalemera kwambiri kuposa anthu.

zizindikiro

Osalimba X Syndrome, zizindikiro amene amafanana satha kulankhula bwinobwino, kuti nthawi nthawi kuzindikira ngakhale dokotala waluso kapena matenda okhudza ubongo.

Chithunzi matenda zingasiyane malingana ndi kuchuluka kwa kubwereza a C-YY.

Mu Baibulo tingachipeze powerenga za psychomotor retardation zikusonyeza kuthekera osalimba X Syndrome. Photo wa mwana limakupatsani kuona woyamba zizindikiro khalidwe la matenda. Pamenepo pali chisokonekero ndi discoordination kayendedwe, minofu kufooka kwambiri. Nthawi zambiri, ana amadwala satha kulankhula bwinobwino. Kuzionetsetsa, ndi katswiriyu limasonyeza kusokoneza ndi oculomotor mitsempha , ndi zina zolakwika mu ubongo. Ndi zaka, zinthu zikuchitika, pang'onopang'ono kuwonjezeka chitsanzo cha retardation maganizo.

Nthawi zonse mavuto a m'maganizo alipo: mwana kawirikawiri mtima kwambiri n'kunena mokalipa, mapulogalamu unmotivated grimaces zambiri akuwomba m'manja, nthawi zina khalidwe azitengapo kwambiri. zizindikiro chotero kungafanane akuchita misala. njira inanso satha kulankhula bwinobwino, zomwe anayamba ana aang'ono.

Osalimba X Syndrome: zizindikiro

Mbali enieni anyamata ndi kuonjezera kukula kwa machende ndi (makroorhizm), koma angathe kuonedwa yekha mu msinkhu. Pankhaniyi, aliyense matenda endocrine ali kwina.

Kusintha maonekedwe ndi zimakhalanso si yeniyeni, koma amakumana ndi dokotala kupeza matenda bwino. The mwana zambiri mutu waukulu, nkhope yaitali ndi pang'ono yokhota kumapeto rostral nsonga ya mphuno. Kumeneko miyeso chachikulu ndi zala, zala ndi kwambiri kuchuluka osiyanasiyana apaulendo. Nthawi zambiri, khungu elasticity mkulu.

Mawonetseredwe premutatsionnogo zosinthika cha matenda ndi makhalidwe ena. Pakuti ataxia matenda yodziwika ndi kugwedeza ndi kukumbukira mkhutu, makamaka yochepa, pali kusintha maganizo ndi mwapang'onopang'ono maganizo ndi kuchepa ntchito chidziwitso (kulephera kuwerenga ndi kumvetsetsa mawu). Symptomatology akufotokozera kawirikawiri anthu chonyamulira ndipo ali Inde aakulu kuposa akazi.

Pulayimale kulephera yamchiberekero yodziwika ndi maonekedwe a kusintha msanga ndi kusokoneza ntchito kwa dongosolo, "ndi pituitary-yamchiberekero" wa. Timasangalala kumawonjezera follicle popatsana timadzi, wopita ku maonekedwe ndi mofulumira zizindikiro kusamba vegetative. matenda m'kati pang'onopang'ono amafuna timadzi m'malo mankhwala.

Kodi matenda matendawa

Pakuti mtima zoyerekeza wa matenda mu magawo oyambirira a mwana abwino cytogenetic njira. Zimachitika mpanda mtima selo chuma ndipo anawonjezera vitamini V₁₀ (kupatsidwa folic acid) monga kusintha ndi provocateur mu DNA. Patapita nthawi, kuphunzira limafotokoza khromozomu ndi kupatulira kwambiri, kusonyeza kuti matenda Martin-Bell, osalimba-X syndrome. Izi njira zasayansi tione sachita zolondola pamisinkhu kenako, chifukwa cha ntchito kwambiri multivitamins, monga folic acid.

Ndi kwambiri yeniyeni polymerase unyolo anachita (PCR), amene amalola kuti kumvetsa kapangidwe ka zatsalira kwa amino asidi mu X khromozomu ndipo amasonyeza osalimba X Syndrome. Photos anapanga ndi elekitironi maso, limasonyeza malo a kupatulira autosomes.

A osiyana, chimake kwambiri mwachindunji kuphatikiza kwa PCR ndi kudziwika mu capillary electrophoresis. Kuyeza kumeneku molondola detects kuvutika khromozomu odwala ndi matenda ataxic ndi yamchiberekero insufficiency chachikulu.

chithandizo

Pambuyo pa PCR, ndi matenda a "osalimba X Syndrome", mankhwala ayenera kuyamba posachedwapa.

Popeza matenda ndi kobadwa nako ndipo ali ndi magwero chromosomal mankhwala yafupika kuchepetsa zizindikiro zazikulu za matendawa.

chiwembu achire umalimbana kuchepetsa mawonetseredwe psychomotor retardation, kusintha pomuphunzitsa ataxic syndrome ndi thandizo m'thupi kulephera chachikulu yamchiberekero.

Ana ndi retardation maganizo ndi chifukwa anatsimikizira za PCR oterewa "osalimba X Syndrome". Russia alibe zipatala, kumene konzanso wa ana awa, kotero chithandizo wakhala dokotala ndi akatswiri zokhudzana. Mwakucimbidza tisaiwale kuti mankhwala a ana kuposa mmene akuluakulu. The njira ya magawo chidziwitso khalidwe mankhwala ndi zamaganizo pa maziko munthu, thupi, mitundu kuwala kwa ogalamutsa. A azimuth watsopano ndi ntchito za kukonzekera zochokera kupatsidwa folic acid, koma zotsatira akutali kuphunzira.

Wamkulu mankhwala mankhwala zikuphatikizapo ogalamutsa ndi antidepressants, umachitika nthawi zonse zazikulu polojekiti ndi zamaganizo ndi zamaganizo. M'zipatala payekha kugwira magawo microinjection kukonzekera "Cere" ndi ena ofanana, cytomedines (mankhwala "Lidaza", "Solkoseril").

Pamene ntchito nootropics ataxic syndrome ndi magazi thinners, angioprotectors ndi zosakaniza amino zidulo. Pulayimale yamchiberekero kulephera akazi estrogens ndi mankhwala azitsamba umamumvera uphungu.

Mphamvu ya mankhwala otsika, koma limalola nthawi m'mbuyo Kukula kwa matendawa.

kupewa

Njira yokhayo zopewera ndi kuphimba amayi apakati. Mu anayamba
M'mayiko anayambitsa kafukufuku amene angazindikire osalimba X Syndrome pa siteji oyambirira ndi kutsirizitsa mimba. An chimake zina ndi mu umuna m'galasi, zomwe zimachititsa kuwonetsetsa kuti mwana analandira tsogolo "wathanzi" X khromozomu.