Fabry maʻi: symptoms, lapaʻau, kiʻi

I ka maʻi ua kena ae la e ka nele o ka nui'ūhū Alpha-galactosidase A ua kapaia Fabry maʻi, ma hope o ke nä känaka 'epekema' ole i loko o ke ao, a wehe ia. No ka mea manawa mua he mutation i loko o ka'ōewe i ua hōʻike ma 1989 maʻEnelani.

Ma lalo o maʻamau rula, keia'ūhū mea i loaʻa i loko o aneane pau keena o ke kino, a ua komo i loko o ka aaioee o lipids. Kanaka, ka poe i loaa i ka hemahema'ōewe, aia no he buildup o momoma 'ona i loko o ka lysosomes. Ultimately, maʻi hele aku ai i ka make ana o vascular pa keena a me nā'aʻaʻa. Fabry maʻi - pohihihi keia aaiaoe kāna hana, iʻikeʻia me "lysosomal pūnaewele maʻi".

symptoms

I ka maʻi, e like me ka 'inikua kilo, muaʻia i loko o nā mākua a me nā keiki i loko o ka mālama'-a me ka puberty.

Symptomatology o ka maʻi, ua like penei:

• Ke ahi a me ka soreness i kupu mai ma kaʻaoʻao, ano hoomainoino ma physical exertion a me ka hui 'ana me wela. Pain ua pinepine pu ma ka feverish Hawaii.
• Nawaliwali ka hoomaopopo ana. Loa pinepine, e pu mau symptoms ma haʻahaʻa naʻau i loko, uunu nui, manaʻo o ka uunu nui. E hoomanawanui i haha aku i ka naʻau i loko o ka mea hōʻemi a me ka emi ana o ka wiwo ole i loko o kā lākou mau nā mea hiki, a ho'ēmi i kā nui i ka pono o ke ola.
• Ua hoʻemi sweating.
• Luhi na wawae a me na lima. Ke kanaka, a me ke kūpono 'ana o ka maʻi, hiki ole lawe mai i ka loa ano hana likeʻike piʻi ikaika luhi. Hui me ka eha ka waiʻona ma ke ia symptoms alakai i ke hoʻokō 'helplessness.
• Proteinuria. Malaise, pu ma ka mahuahua kumuʻiʻo excretion i loko o ka mimi. Pinepine i ka symptom ke kumu pololei oleʻike.
• Education rashes ma na lākou kīkala, groin, lehelehe, manamanalima.
• Autonomic kāna hana.

Kahi o ka hapakolu o na keiki i ka mea ia manawa me ka luna symptoms hoʻomōhala ami maʻi pale. Child inā pilikia ka haumāna kanu Muscle eha, emi ma ka hihio, nele i ka mea'ōnaehana mānowai koko hoounauna. E like me ka Holomua o'ūhū deficiency ua malama hakuʻala maʻi, kiʻekiʻe ke koko. Aka hoi, na mamo a ia i kaʻike, ka loa pohihihi keia, no ka mea, mea nui no laila, i loko o nā 'ano apau loa e pili i ka' oihana-oaio? A no ke koko e ho'āʻo ai i ka aaiaoe kiʻekiʻe.

ʻO wai ka mea e komo oukou i ka maʻi?

He nui nā kanaka kahaha pehea Fabry maʻi hoike mai ai ia ia iho, i ka mea? E like me ka haʻawina, ua hele mai lapaau i ka mea i kēia hopena a:

• I ka maʻi ke hoʻomōhala i loko o kekahi kanaka, nānā 'ole o ka wahine.
• Ke'ōewe ke kumu ua IIeEeAIEUIeXAIIUE ke kūpono 'ana o ka maʻi i loko o ka X-chromosome. Kane a pau i wale kekahi X-chromosome, a ina e loaʻa i ka loli ana o'ōewe, i ka manawa o ka ulu symptoms ka loa kiʻekiʻe. A ke kanaka hiki ole ke hoʻouna i ka maʻi keiki, akā, a pau kana mau kaikamahine, e ili mai keia kina.
• Wahine i mau X-chromosomes, no laila, i ka pahiki o pū i hiki i ka maʻi ke keiki a kekahi wahine He 50/50%.
• Symptoms pinepine ana i ka wā kamaliʻi a me ka adolescence, e like me'ōpio kanaka.
• Ka hemahema'ōewe ua loaʻa i loko o kekahi o na ola hanau 12 000, i ka mea pohihihi.

ʻike, no ka maʻi

Pololeiʻike, Ua pinepine paʻakikī no ka mea, o ka maʻi mea pohihihi keia, a hōʻike i ka pau huahelu o ka lapaʻau symptoms. Nā mea maʻi i kēia maʻi Fabry e hookolokolo aku la ia ia e hoʻomalu i loko o kekahi lapaʻau wahi.

Mea hiki ka hoao ana hōʻike ia ma waena o ka loiloi mua symptoms a me ka mea hope loaʻike, ma ka awelika ma kahi o 12 ala. He mea nui e hookupaa nui ae i ka maʻi i kakahiaka nui i hiki e kiʻi kupono lapaau.

Health mālama pūnaewele e manao i ke alo o keia aaiaoe lesion, inā ua loaʻa kekahi kanaka i kekahi hui malu pu ana o ka oi ma mua o nā symptoms. I ka wā kamaliʻi o Fabry maʻi (he Hawaii photo o ka loli ana o chromosome ua hoike mai ia ma lalo nei), kokoke 'aʻole i ana, no laila, i kaʻike, hiki ke huikau.

ʻike, no ka maʻi no na kanaka

ʻO kēia mau hanana i paa no a pau:

• Lākou kūʻauhau Ka Ikepili, ke kuauhau laau. Ua haawiia ka hereditary ano o ka lesion, i ka papa kuhikuhiE cia i loko o kaʻike, o ka ohi no ohana mōʻaukala. Akā, lālā o kekahi 'ohana i ka maʻi e noho unrecognized.
• A like ma luna o ka maʻiʻo o ka'ūhū galactosidase i loko o ke koko.
• DNA Ka Ikepili - ua lawe mai ma ka hihia o kekahi henua hopena o biochemical noiʻi. DNA hiki ke lawe mai i kekahi liluwelo mea.

Fabry maʻi:ʻike, o lesions i loko o na wahine

ʻO kēia mau hana i lawe mai i ka wahine hoohanau:

• Lākou kūʻauhau Ka Ikepili.
• DNA Ka Ikepili.
• Ka maʻiʻo o ka'ūhū i loko o ke koko ka i ka iniiaiie anakahi o ka maʻi, i ka mea i kauoha aku e ho'ā hope o ka asymmetric X-chromosome. Ua hiki ia i loko o ka maʻamau huahelu, a hiki ina he wahine ka makana maʻi.

prenatalʻike,

Research lawe mai ma ka ana i ka nui o ka'ūhū i loko o ka fetal nā'aʻaʻa. He mea pono ina poino i ka makuwahine, mai ka aaiaoe kāna hana, a he mea i hoʻohuoiʻia i ke kamaiki ke lilo mai ia ia Fabry maʻi. Symptoms o ka maʻi iʻaneʻane noho e makou ma hope o ka hānau a me ka hoike ana ia lakou iho ma hope i loko o ke ola.

Loaʻaʻia complications

Inā ka hoʻomanawanui i i hala i kaʻike,, a me ka maʻi hiki ole ke ola, ma ka hapanui o na hihia, hoʻomōhala i nā kēia complications:

• Huʻiʻaʻa puʻuwai ole. Man ua mau losing kumuʻiʻo i loko o ka mimi, oa ulu proteinuria.
• Hoʻololi i ke kinona a me ka naau. I ka lohe ia akulla insufficiency o ka naau kiwikā, spasmodic contraction.
• Impairments o ke koko i loko o ka lolo. Ke hoomanawanui i ka hoao ana pinepine pōniuniu, he complication nui o ka noho i ka hahau ana.

lapaʻau

Poe i hoʻohuoi nui 'ia Fabry maʻi e hoouna aku i ka hana kūikawā-oaio? A, he mea maʻa loa i loko o ka iapaau ana o ka lysosomal pūnaewele maʻi. Ma kēia mau hui hoopaa i ke alo o ka pathology, a hoʻokō kūpono Inc.

Up a na 2000s, i pahuna ke kumu o pākōlea loina i lanakila io rula ulu ana ma ka Holomua o ka maʻi. I ka manawa, he okoa e hoʻokokoke ua hoʻohana 'ia e kōkua hoʻopau ole wale na symptoms mea i Fabry maʻi. Lapaʻau ninoieo o'ūhū hope Inc. Hoʻomanawanui iki mai prescribers o Alpha, Hoʻokolohua-galactosidase.

Fabry maʻi (symptoms a me ka noiʻi ua ia e hookupaa i ka pololeiʻike,) mea malalo iho o ke koke lapaau. Ua ua lawe mai ma ka pahu kui, i ka hoʻomanawanui loaa ana kela mau pule. Kēia hana hiki ke hoʻokō i ka kōkua o kekahi kahu i loko o ka? Aaieou paha ma ka hale, ina ke kanaka mea pono tolerate infusion. Iapaau ana apono 'e normalize pūnao, eliminates recurrence o symptoms, hikiʻole i ka hooulu ana o ka maʻi.

O ka papa kuhikuhi lāʻau hoʻohana no ka hakahaka ua noʻonoʻo "Replagal." Ke kākoʻo pāʻoihana Ua hookuu i ehiku huewai o 5 ml. O ia hoʻi, he maikai tolerability, ma pohihihi na hihia o ka hanana o kaʻaoʻao ole: ka ohane, abdominalʻeha, kuni.

Inā maʻi i ke kumu no ka wi eha, nā mea maʻi i aiiieieoaeuii ia anticonvulsants, analgesics, ole-steroidal Anati-hoʻoʻino Agena.

He nui nā loea, manaʻo i ka mea hiki ke hoololi i ka papa maoli o ka maʻi i ka pololeiʻike, a me ka hana o Fabry maʻi. Haʻi'ōlelo ana o ka hakahaka lapaʻau hiki ana kona ulu ana.

keʻena hoʻokolohua ka mālamaʻana

Ma ke kāʻei kua o ka papa, ua pono, e lawe mai laupaʻi paa tseramidtrigeksozida. Ma ka holomua lapaʻau, kona lehulehu emi. Ma kekahi lapaʻau haʻawina, hana anakahi o ka nui o ka sphingosine globotriaozil.

ole Injections pau i waeia i hāpai keiki, a lactation, ina o ka wahine mea i ike'ē aʻe ka maʻi i ho oweliweli i ka weliweli o ke ola.

hualoaʻa

Fabry maʻi - he nui aaiaoe kāna hana pu ma kaʻeha, worsening i ka pono o ke ola, a alakai ai i ka pohāʻana o ka loio nona iho. A hailona no nā mea maʻi mai i loaa kūpono lapaʻau, no laila, hikiʻole i ka pono e hana, ao, ohumu o ka pono o ka hāʻule pohō wale, luhi, kaumaha, uunu nui.

Ke oolea o symptoms i worsen i kela la i loko o ka ulu ana o ka maʻi, a me ke ola expectancy o ka poe loli ana ma ka mea, ma ka awelika o ka 15 makahiki emi ma mua ia o ka mainstream. Akā, Fabry maʻi - mea ole ka make olelo, a me ka mea maʻi, aka hope Inc, ke alakai i ka piha ola.