Louis-Bar maʻi pale: Symptoms,ʻike, a me ka iapaau ana

E like me oe i ike, he nui okoa chromosomal abnormalities, a i waiho, a hiki ma ka utero. I ka like o kēia mau pathologies i hoʻoili i loko o aaiaoe?. Ma nā makahiki, keia wahi o ka lapaau e ua 'Imi ke kino, no laila, i loko o ka wā e hiki mai ma kahi o ia mau maʻi e e aho e diagnose a me ka hana. Mea pōmaikaʻi, mau anomalies i loa pohihihi keia. Ua Ua pili me ka hoonui ae i fetal lapaʻau 'ana. Kekahi o na pathologies pili me ka chromosomal abnormalities, o Louis-Bar maʻi pale. Ma ka hapanui o na hihia, ka maʻi ua 'akomi i loko o ka makahiki mua o ke keiki ka ola, akā, i kekahi manawa ka mea,ʻo ia manaʻo wale ma 6-7 makahiki.

Louis-Bar maʻi pale - He aha ka keia pathology?

Kēia pathology ua pili i ka congenital aaiaoe mā. Ma ka hapanui o na hihia, ka mea, ua ili mai iā ia. Ataxia telangiectasia (Louis-Bar maʻi pale) ka'āina pohihihi keia. I ka maʻi, ua ho'ākāka symptoms e ae i kaʻike, o keia pathology. E hana i ka pololeiʻike, e pono ai i ka ahaolelo o ka lapaau, ka mea e hoʻokūpaʻa ai ke Säkona i ke alo o ka anomaly weliweli.

History a me epidemiology o ka maʻi

Kēia maʻi pale ka loa pohihihi keia. Kona alapine (frequency) o ma kahi o 1 ina no 40.000 heluna. No ka mea manawa mua i ka maʻi i loaa ma Palani wahineʻepekema Louis-Bar. Syndromes ano o ka pathology, ka mea, ua hui ia ma kekahi nosology. Ua hiki i ka 1941. Ua loaʻa ma hope o kekahi mau hou hihia a puni ka honua. No keia anomaly ka loa pohihihi keia, he mea hiki ole ia me ka miomio mea i ka etiology o ka maʻi pale Louis Bar olelo. Ua manaoio aku i ke ano o ka maʻi mea,ʻaʻole e kaukaʻi ma climatic olelo. No laila, i ka maʻi pale ke hana i loko o nā wahi. Eia hou, aole mea i hoike ia e kuhikihi ana me ka mea hiki wale mai o ka hoʻomanawanui palaoa. Ia mea, Louis-Bar maʻi pale ia lŘlŘ me ka like alapine (frequency) i loko o nā keiki kāne a me nā kaikamāhine a pau.

Nā kumu o ka maʻi ulu

Kēia anomaly hooulu ana ua waiho ia ma ka trimester mua o ka hāpai keiki. I ka maʻi ua ho'īli wale ma succession. Ka maʻi pale pili i ka autosomal recessive aaiaoe kāna hana. Kēia 'o ia hoʻi i ke keiki, e ili mai ka maʻi pololei, ina nā mākua i ka' aʻe 'ana o chromosomes. Inā i anomaly ia lŘlŘ i loko o kekahi o ia (nānā 'ole o ka wahine), i ka manawa o ka hanana o ka maʻi pale Louis-Bar i ke kao keiki, he 50%. Ke kumu nui no ka mutation - mea he 'aʻe' ana o ka lima lōʻihi o chromosome 11. Ka mau aʻe e alakai ia ia i ka aaiaoe rearrangement mea IKE OLE IA. Akā, e hōʻike ana i ka helu o nā palapala 'ole, me ka hoohuoi ana embryonic ulu. He kuhikuhi? Aneie aʻe (waiū i ka make waiwai). ¶ A i loko o ka trimester mua o ka hāpai keiki, ua noho pilikia loa stress.

Louis-Bar maʻi pale: pathogenesis o ka maʻi

Like loa congenital chromosomal abnormalities me, ka maʻi pale ka loaʻa o kekahi mau nā loko, a nenoai. Ke kumu pale o keia maʻi i ka lolo, a me ka kanaka'ōnaehana paleʻea nenoaiu. Aia mea no hoi i ka hai, a me ka ili lesion. A pau o ka lapaʻau hoike ana mai o ka maʻi i pili i keʻano papa hana o kona ulu ana. Ma ka wahi mua, he degenerative keʻano o ka hanaʻana i loko o ka Central ko mākou hopohopo nenoaiu. Oia, cerebellar ataxia. Ma keia hapa o ka oihana mua, aole ia e hoʻomōhala (Purkinje olona, a me ka granular aeee). Other kāna hana i hiki cutaneous hoikeana - telangiectasia. Ka mea, ua o ia mai nā kīʻaha i mea pakahi aku la ia hai ma luna o ka maka (ka pahu kui sclera, pepeiao, ihu). Ataxia telangiectasia cerebellum a collectively e ike i ka maʻi pale o Louis Bar. Na keiki i hanau i ka maʻi, hiki ke hōʻike 'ia ma ka makahiki mua o ke ola me ka anomaly hoike loa physical kino kīnā (developmental' ole 'ana, ka poe kulou, Muscle nawaliwali).

Eia hou , i ka pathogenesis o ka maʻi mai nā 'o ka hoʻokō' ole 'ana o ka'ōnaehana paleʻea'ōnaehana (T lymphocytes). Children loaa mai keia kāna hana, he mea hypo- a piha aplasia o ka thymus. E like me ka hopena o keia halepaahao-mediated e hoʻonele hoʻomohala loa nāwaliwali a me ka mea hiki ke mālama i ke kino, mai infectious keʻano o ka hanaʻana.

Nā symptoms o ataxia-telangiectasia

Ke oolea o ka lapaʻau kiʻi hilinaʻi nui ma luna o ka degere o cerebellar hypoplasia a me ke'ō gland. Ua hoʻoholo pehea ia e hoike Louis-Bar maʻi pale. Symptoms o ka maʻi.

1. Cerebellar ataxia. Kēia maʻi pale hoike mai ai ia ia iho, ma mua o ka 'ē aʻe, i hookuu i ka makahiki mua o ke ola. He lilo ia haʻi i ka hoʻomaka o ke kuokoa hele. Children me cerebellar ataxia pinepine hiki ole ke ku mai a me ka neʻe maʻamau. Ma ka nui 'ano hihia i ka naueue wale no hoi o ka gait a me tremor o na lala. Eia kekahi, neurological symptoms kaheaia ma ka Muscle nawaliwali, dysarthria e loli iki degere (slurred olelo) a me ka strabismus.
2. Telangiectasia. Cutaneous hoikeana Louis-Bar maʻi pale i emi pilikia loa. ka mea, IeAUPIIe, IAa IO hoike mai ia lakou iho ma waena o nā makahiki o ke 3 me 6 makahiki. Telangiectasia - he dilated capillaries, i ka poe i kaheaia "punawelewele, aa koko". Ka hapa nui o nā mea a pau ka mea i hiki i loko o nā wahi hamama o ke kino, pakahi aku la ia i ka maka. Dilated kīʻaha koko e pinepine i loaʻa i loko o ka maka, ihu a me ka pepeiao, a me ka flexor surfaces o na lima a me na wawae.
3. Propensity i nā mea palahēhē. Aie i ka loa immunodeficiency kino hiki ole Makuakane me ka palapala konohiki o ko lākou iho. E like me ka hopena, i ke keiki pinepine hoʻomōhala likeʻole nā mea palahēhē. Pinepine ia mea he maʻi mai o ka naehana'āpana - pharyngitis, laryngitis, tonsillitis, pneumonia.
4. Neoplastic keʻano o ka hanaʻana. Manawa thymic hypoplasia, iwaena o infectious keʻano o ka hanaʻana, i ke kino i susceptible i ka maʻi 'aʻai. Loa pinepine ia mea heʻeho no hematopoietic a me lymphoid'aʻaʻa. Inā ka maʻi pale Louis-Bar i loko o ke keiki o ka henua pololeiʻike,, laila ka mea, ua pololei papaia i ionizing pāhawewe kanaka o ka maʻi 'aʻai.

ʻike, o ka ataxia-telangiectasia

ʻike, no ka maʻi pale Louis Bara IeAUPIIe, IAa IO aʻole i kekahi pilikia nui, e like me kona symptoms i loa kekahi. Hāʻupu aʻe ka maʻi hiki ia i ka makahiki mua o ke ola ma ka lapaʻau kiʻi. Neurological symptoms (cerebellar ataxia, muscular nawaliwali, a me ka tremor strabismus) pu me telangiectasia i ka PAaIEN no diagnosing keia pathology.

Inā e manaʻo ai he maʻi pale Louis-Bar mea pono e kukakuka mau hoʻomalu. I waena o lākou: i ka neurologist, dermatologist, oncologist, infectious maʻi hoʻomalu, endocrinologist a me ka geneticist. Ma waho aʻeo ia lapaʻau ninaninau, hana keʻena hoʻokolohua a me vocal lapaʻau 'ana. E lawe mai immunoassays, ma a ka hiohiona ka ho'ēmiʻana a me ka huina kaawale ana o na kumu o ke kelepona hele e hoʻonele (T lymphocyte hoole mai oia, immunoglobulin A, G). Ka KLA malama leukocytosis a hōʻeleu i erythrocyte sedimentation ana, i Hōʻike li nui i loko o ke kino. Ua mea i nui a me ka vocal lapaʻau 'ana. Pahu X-Ray ua hana (ka ho'ēmiʻana i loko o thymus nui), MRI lolo (degenerative keʻano o ka hanaʻana). Currently, ma ka hou ana i ka hae e ho'āʻo ai, lawe mai aaiaoe (investigating i ka 'aʻe' ana o ka 11th chromosome), ma ke kulanui i nā kānaka a i ka pololeiʻike.

Lapaau ana i ka maʻi pale o Louis Bar

Eia naʻe, i ka etiological lapaʻau o chromosomal abnormalities ua ole a ianoiyuaa a? Ac?. Nolaila, ma keia pathology ua hana wale symptomatic Inc, a ikaika aku ka mālamaʻana o nā mea maʻi. Ka iapaau ana mua ua nona ma ka hoʻomaikaʻi i ka functioning o ka'ōnaehana paleʻea nenoaiu. He mea pono e loaʻa nā mea palahēhē a me kaʻeho keʻano o ka hanaʻana. No keia mea, hoʻohana a gamma-globulin e hoomakaukau ai, a me ka "T-activin". Me ka hooulu ana o ka hoʻoʻino maʻi pili antibacterial a me ka antiviral konohiki. Eia naʻe, cerebellar ataxia maʻi pale hiki ole ke maopopoʻia. E pau ana ka hana degenerative keʻano o ka hanaʻana i hoʻohana nootropics. I ka maʻi 'aʻai chemotherapy, a ua hele aku io eʻoki kino.

Ke prognosis no ke ola i loko o ka maʻi pale o Louis Bar

I loko nō o ka oolea o ka maʻi, he mea hiki, e hohola aku a kōkua i ke keiki i ka ola me ka 'eleuʻike, a me ka lapaau. No keia mea, he palliative Inc no kēia mau hoʻomanawanui iki mai. Eia naʻe, i ka anomaly Louis-Bar ke holomua koke. Ma keia hihia, ke ola expectancy mea 2-3 makahiki. I kekahi manawa, i ka maʻi, aole ia e hoʻomōhala no kekahi mau makahiki. I ka Ia manawa ola expectancy ua nui mahuahua. I kā mākou makahiki o ka hoʻomanawanui iki mai ua manaoia e ia 20-30 makahiki. Ma ka hapanui o na hihia i ke kumu o ka make e infectious a me ka neoplastic keʻano o ka hanaʻana, i kekahi manawa, - neurological kāna hana.

Kāohi maʻi pale Louis Bar

E pale i ka hooulu ana o keia pathology, ia mea e pono ke lawe mai aaiaoe ninaninau o ka fetus mea nō ma nā kahua o ka hoʻonaʻauao kakahiaka o ka hāpai keiki. Ua mea, e ike i ka mōʻaukala o ole wale na makua o ke keiki, akā, i nā 'ohana i nui. Ma hāpai keiki, e pono e pale aku i ka palapala hopena o? Aneie a me ka 'ehaʻeha o stress.

Inā he kamaiki me ia i anomaly ua hanau, ia mea nui i ka hana a pau kuhikuhi, e hoomalu aku i ke keiki e ku e infectious konohiki. Me ka palupalu e hoʻonele a me kaʻole physical? Acaeoey ia mea e pono ke diagnose i ka maʻi pale Louis Bar. Photos o na keiki me ka maʻi hiki ke ike ia ma ka hana 'inikua moʻokalaleo.