Fragile X maʻi pale: na hoailona, symptoms a me ka lapaʻau regimen

Ka papa kokololio ulu o ke lapaau i 'ae' na kanaka, e wehe i ka hailona o ka mua na mea ike ole ka maʻi. Of mau nui i loko o ka iwakālua kenekulia hookani i ka transcript o ka aaiaoe kivila, a i ka mea hiki ke kuhikuhi i na kumu o na mea he nui aaiaoe a me ka chromosomal abnormalities. Aia, ua oi aku mamua o 3000 mai e pili ana i laupaʻi, a qualitative loli ma ka aaiaoe mea. A kŘpa a hou maʻi mea Fragile X maʻi pale, i ka mea i 'ano kiʻekiʻe pakeneka o ke keiki kīnā o ke kino.

Martin Bella maʻi - he maʻi pale a neurological kāna hana?

Fragile X maʻi pale - congenital abnormality pili me ka fragility o ka X chromosome. Ka manaʻo o "fragility" pili i kaʻoi hou o ka pilikia makapō hope o ka X chromosome. Oia loli hoʻokūpaʻa Fragile X maʻi pale. Photos o nā keiki haʻalele Hōʻike ka backlog o psychomotor? Acaeoey, i mālama ai i ka Holomua, mai ka wanaʻao kamaliʻi.

kumu

E like me ua ikeia, ke kanaka genotype mea OK - e Aloha 46 chromosomes, elua o ka i - ke ke keka X a me Y. Ma nā wāhine, niioaaonoaaiii, e nana i ka chromosome 'ia paha e like - 46 XX, a me na kanaka - 46 HU. Mau nā moku halihali mokulele o aaiaoe 'ike ninoieo o ka'aminoʻakika lei o ka olelo, e i waiho i ka' ike e pili ana i ka 'ole a me ka mana o ka wā e hiki mai ana o ka meaola ola.

Maʻi Martin Bella (Fragile X-chromosome) e hoʻomōhala ana i aie i ka loli ma ka X chromosome, no laila ka mea, hiki ke hana ino i nā wāhine a me nā kānaka. Thinning hapa X- chromosome ku i ka pathological mahuahua i loko o ka papa'aminoʻakika residues o 'oe a - cytosine-guanine-guanine (C-G-T). Kēia me ka hui pu ana o Rep ma laila kekahi mau manawa i loko o nā nā'ōewe, akā, ia mea nui, i ka mea, o ka helu ana o repetitions. Maʻamau ka mea, papa koa mai ka 29 a hiki i 31. Ma ka hihia o Martin-Bell maʻi pale ia huina ua ikaika nui ae, a hiki ke pilikia mai ka 230 a hiki i 4000 manawa, i hiki aku ai i ka hoomahuahua i ka chromosome a me ka'ōewe kekahi hihia hoʻi functioning - FMR1, i mea kuleana no ka pololei functioning a me ka ulu ana o ke ko mākou hopohopo nenoaiu. Ke hualoaʻa Ua akaka no ka puka ma hope o ka pōkole manawa ma hope o ka hānau, a ua hoikeia mai psychomotor retardation.

hōʻikeʻike koho

Ka helu o nā repetitions cytosine-guanine-guanine kumu likeʻole nā kinolau o ka lapaʻau maʻi Martin-Bell. Ka maʻi pale ke i hunaia 'ano apau loa. Inā ka like hōʻike 55 a hiki i 200 ia hana, ma laila premutation - mokuna loli ana e kekahi kanaka i lawe, akā, me ka i nanaia loli o ka'emi ko kahua. I ka oo a me ka wa elemakule hiki hoʻomōhala ataxic maʻi pale, a iniiaiie ovarian ole i loko o na wahine. Ka pahiki o EYI o ka maʻi pale mea kiʻekiʻe. Dala i no hoi ka palapala moku'āina - he 40 a hiki i 60 nucleotide ia hana, i clinically hoikeia ole ili ke hōʻike i loko o kekahi mau hanauna.

Devolution

Aaiaoe? E lawe aku i ka maʻi a hiki i ka hui ana o pathologies, ke keka-ua hoʻopili, i mea, me ka X chromosome. I na kanaka, i ka maʻi hoike mai ai ia ia iho, hou a me ka nui maopopo, e like me kā lākou genotype he hoʻokahi X chromosome. Women pathology e hoʻomōhala ana i loko o ka hihia o nā "pathological" X-autosomes. Loa kākaʻikahi, na kanaka hiki ke premutatsionny hōʻoia a me ka lawe. Women mea me ka nui loa aku paha i ka hana maʻi lele ke kāohi, me ka hele "pathological" chromosome me ka like pahiki no nā kaikamāhine a me nā keiki kāne no. Maʻi makua kāne hiki ke hoʻouna i X-chromosome mau kaikamāhine wale nō. Hooilina maʻi pale i nā maoli, mai ia hanauna aku ia hanauna aku, i lilo aku ia me ka Sherman paradox. Ka lapaʻau papa o ka maʻi pale, ua nui kaumaha ia ma mua ia o na kanaka.

symptoms

Fragile X maʻi pale, na symptoms o i hoohalike ai autism, i ole manawa e manawa, eʻike ai i ka hoao ana i pediatrician paha neurologist.

Ka lapaʻau kiʻi ke oko ma ka helu o nā repetitions o C-YY.

Ma ka Classic mana o ka psychomotor retardation Hōʻikeʻia Fragile X maʻi pale. Photo o ke keiki e leie aku oe e ike i ka mua ano hoailona o ka maʻi. Aia ka haunaele a me ka discoordination neʻe, Muscle nawaliwali e hoʻomōhala ai. Muli o kona kulana pinepine, na keiki e ae, mai autism. Ma hookolokolo, he neurologist hōʻike hoʻohuikau o ka oculomotor nā aʻalolo , a me kekahi mau deviations ma o ka lolo. Me makahiki, i ke kulana ua ano hoomainoino, ke kiʻekiʻe o ulu kumu o ka noʻonoʻo retardation.

Mau noʻonoʻo 'kāna hana i kēia manawa: he keiki pinepine blurts, unmotivated E hoike mai grimaces pinepine paʻipaʻi i kona mau lima, i kekahi manawa, hoi loa pākīkē. Oia symptoms i kekahi mau mea like e schizophrenia. Kekahi koho mea e autism, a hoomaka ae la e hoʻomōhala i kakahiaka kamaliʻi.

Fragile X maʻi pale: symptoms

A kekahi hiʻona o nā keiki kāne i mea e hoomahuahua i ka nui o na hoʻi (makroorhizm), akā, ka mea hiki ke 'akomi i wale i loko o puberty. Ma keia hihia, i kekahi endocrine kāna hana ma kahi e.

Loli o ka helehelena i kŘpa ole-kekahi, akā, i maka i ke kauka e 'imi i kaʻike, he pono. Ke keiki He pinepine he nui poo, lōʻihi helehelena a me iki uma rostral kihi o ka ihu. Aia i nui Ana a me nā manamana, lima i kekahi me ka nui loa, a mahuahua nui huahelu o ka noi. Pinepine, i kaʻili i ke kiʻekiʻe elasticity.

Hoikeana premutatsionnogo Lolina o ka maʻi i kekahi mau 'ano. No ka ataxia maʻi pale wehewehe aku ma ka tremor a me kaʻole iaiyoe, pakahi aku la ia pōkole-makahiki, ma laila nā loli o ka naʻau i loko, a o ka holo 'ana o ka dementia me ka emi ana o cognitive oihana (i ka hikiʻole, e heluhelu a me ka ike i ka olelo ana). Symptomatology? Acaeoey? Oi pinepine ia i loko o nā kānaka lawe, a i ka oi loa papa ma mua o nā wāhine.

N ovarian ole wehewehe aku ma ka helehelena o premature menopause a me ka loko i ka functioning o ka'ōnaehana, "ka pituitary-ovarian". Maʻiʻo maoli he follicle noho haumāna kahi hōmona, e alakai ana i ka nānā aku a me ka nalowale ana o menstruation vegetative symptoms. Ka maʻi progresses i nā a koi hōmona hope Inc.

Pehea e diagnose i ka maʻi pale

No ka mea He kokekau wale hoʻoholo o ka maʻi i loko o nā kahua o ka hoʻonaʻauao kakahiaka o ke keiki kupono cytogenetic hana. Ua lŘlŘ pa ahonui halepaahaoʻia, a hoʻohuiʻia wikamina V₁₀ (folicʻakika) me ka provocateur loli ma chromosomes. Ma hope o kekahi manawa, i ka study hōʻike he chromosome me ka nui thinning, e hoike ana i ka maʻi Martin-Bell, Fragile-X maʻi pale. Kēia keʻena hoʻokolohua keia hookolokolo ana iaoiaeii mea,ʻaʻole i lawa ka pololei ma ka hope o ke kahua, ma muli o ia ka mea nui ana o ka multivitamins, i loaʻa folicʻakika.

He nui 'ilepili polymerase kaula naoh (PCR), e leie aku e decipher i ka' ole o ka'aminoʻakika residues i loko o ka X chromosome, a hōʻike i ka Fragile X maʻi pale. Photos i ma ka huina'ine microscope, hōʻike i ke kahua o ka thinning autosomes.

A hoʻokaʻawale, nō oi kekahiʻano o ka hui malu pu ana o PCR me ka ka loaʻaʻana i loko o capillary electrophoresis. Kēia hōʻike pololei huai ae chromosome abnormalities i loko o nā mea maʻi me ka ataxic maʻi pale, a iniiaiie ovarian insufficiency.

lapaʻau

Ma hope o ka PCR, a me kaʻike, o "Fragile X maʻi pale", lapaʻau E hoʻomaka me ka hikiwawe e loaa.

Mai ka maʻi mea congenital, a mai ka chromosomal ka molekumu o, ua hoemiia Inc e alleviate i ka nui symptoms o ka maʻi.

Pākōlea noaia pahuna ma minimizing hoikeana psychomotor retardation, loli ma? Iaea ataxic maʻi pale a me hormonal kākoʻo no iniiaiie ovarian ole.

Children me ka noʻonoʻo retardation, a me ka hoopaa hopena o PCR diagnose "Fragile X maʻi pale". Rusia, aole iaeoaeuiiai eiiieaena, ma ka hoʻopulapulaʻana o kēia mau keiki, no laila, i ka iapaau ana i Ua he pediatrician a me ka pili 'Oihana. Koke ia E e hoʻomaopopo i ka iapaau ana o na keiki oi ma mua o nā mākua me ka pono. Keʻano hana o cognitive 'ano' Inc kau me ka psychiatrist ma luna o kekahi kanaka kumu, hoʻokō ', malamalama ano o stimulants. A kŘpa a hou au o ka hoʻohana 'ana i hoʻomākaukau ka nānā' ana ma luna o folicʻakika, akā, oi ke kaawale ana hualoaʻa? Anoee.

Kanaka makua 'inikua Inc nā stimulants a me antidepressants, ua paʻa ikaika hōʻeuʻeu ka mālamaʻana ma ka psychiatrist, a me ka psychologist. Ma nā nā keʻena lāʻau lapaʻau lawe mai kau microinjection makaukau "Cere" a me kona nā mea loaʻa, cytomedines (lapaau "Lidaza", "Solkoseril").

Wā hoʻohana nootropics ataxic maʻi pale a me ke koko thinners, angioprotectors a me nā mea huihuina o'amino nāʻakika. N ovarian ole i loko o na wahine estrogens a me ka lāʻau lapaʻau laau mea malalo iho o ka hooponopono hou.

I ka laulā o ka lapaʻau, kŘpa a haʻahaʻa, akā, e leie aku no kekahi manawa, e 'ūlōlohi mai ana Holomua o ka maʻi.

Kāohi

Ka waleʻaoʻao o ka Kāohi ua loiloi 'hapai wahine. I ka ulu
'āina hoʻolauna he anamanaʻo e hiki huai ae Fragile X maʻi pale ma kekahi kakahiaka nui ke kahua a me ka 'ōlelo i ka hāpai keiki. I kekahi kohoʻano mea i loko o lūmaua fertilization, a e hoʻonui i ka hōʻoia 'ana i ke keiki ili i ka wā e hiki mai "ola" X chromosome.