Syndrome o Bloom: Take, Tohu me te rongoā

Bloom syndrome - he mate congenital onge, whakaatu ai te pūtau tangata tapepe genomic. Kei te riro te reira i roto i te tikanga ngoikore autosomal.

Tūkinotanga o hou pāngia a whakaahuatia i roto i te 1954 e te takenga dermatologist American Devid Blum. I te mo o te pūtaiao, me te ko te ingoa o te mate. Kupu Taurite - congenital erythema teleangiektaticheskaya.

syndrome o Bloom tino noa pā tangata o iwi Hurai (e pā ana ki 1 i roto o te 100 iwi). Ka taea e te mate, kia rua wahine, me te tangata, engari ko atu korerotia nga tohu whakamutunga. Ko tenei he aha e maha wahine ki tenei mate misdiagnosed.

Ko te tamaiti e he syndrome mate Bloom, he kawe o irakētanga moe i roto i te kotahi irarā o te ira He Kaupeka mātua e rua. Kei te riro te reira e te momo o tohumate tei runga i te aha te huru o te irakētanga he reira i roto i ira o te manawanui. Heoi, e kore te tenei ano kï.

pikitia haumanu

Tūroro ki syndrome o Bloom i whanau i iti taimaha (āhua 1900-2000 g). I roto i te heke mai, he hoki ratou whakatipu puhoi, me te painga whiwhi taimaha. Kei te roa te pūhuruhurutanga o, a tae noa ki te haere i te reira, ko reira hapa. I roto i te tangata, he pākoko noa, me nga wahine - tomuri menopause wawe. Ahakoa tenei, hāngai ratou whanaketanga hinengaro ki tikanga tau.

I roto i nga wiki tuatahi o te ora o te tūroro ki runga ki nga paparinga, nga taringa, te ihu, me te hoki o nga ringa i reira he mirumiru, erythema me te kirinuku. Tino maha i reira te nui haere te tūtohutanga ki te marama UV. Ahakoa tūroro kitenga poto i raro i te ra kia arahi ki te hanganga o te whatunga iaia me te kino ki te kiri o te rerekē pakeke. I muri whakaora te kiri irradiated runga taua mea o kia hanga wahi pouri rawa ranei kanapa, ngā wāhanga ki te atrophy.

Tūroro i te wātea i te mate iti, me te reira e maha fehangahangai ki ngā mate hopuhopu, e auau hoki.

Kei te maha Bloom syndrome e pā ana ki te karawhiti o nga kaki o te wheua huha me mate ngakau congenital.

ahua

tūroro Āhua rerekē. E ratou he angaanga kaua kuiti, kauae iti me te ihu rongonui ( "mata manu"). Ko te tino kitea tenei ki te titiro koe ki te whakaahua o Bloom syndrome.

Tūroro te tikanga tupu iti, whai reo tiketike. I roto i te tahi mau tūroro, i reira he deformities waewae me abnormalities o nga niho. maha amuamu Tūroro o mumura me te huamo o te ngutu, tihorenga ratou. I roto i ētahi wā, i reira he takahi o te tukanga o keratinization o te kiri, me tona blockage (titiro rite "fepulopulasi kuihi").

tātaringa

Tātaritanga "Bloom Syndrome" e te tākuta, e hāngai ana i runga i te pikitia haumanu o ngā raraunga, me te taiwhanga hua hauora o te manawanui.

I te whakamātautau e tika ana ki te aromatawai i te mana o te pūnaha ārai mate. I roto i te tātari o tūroro ki syndrome o Bloom he whakaiti i tohua i roto i te nui o immunoglobulin me T-lymphocytes. I tua atu, e tūtohu ana ki te arotake i te whakawhitinga tuahine chromatid.

A, no te mea nui te tātaritanga kore ki te whakapoauau ki a Bloom syndrome lupus erythematosus syndrome, Dingwall awa syndrome Rotmunda-Thomson me porphyria waihakihaki.

matepukupuku

wātea i te mate iti, me te aroaro o te tokomaha nui o irakētanga rerekē arahi ki te meka e te manawanui tino whakanuia ana te tūponotanga o te mate pukupuku. Tukua i te wa ano e taea e rua whekau, me te toto, waitinana, wheua kiko.

Ko te pathologies tino noa tupu i roto i enei tūroro, he:

• kanisā myeloid;
• lymphoma;
• kanisā lymphocytic;
• pukupuku mārere o te pū kai, arero, me paru;
• pūkahukahu mate pukupuku;
• mate pukupuku o te uma.

He nui iti pea ki te kua pāngia medulloblastoma me mate pukupuku tākihi.

maimoatanga

He manawanui te mamae Bloom syndrome, ka kia symptomatic te maimoatanga. Whakaititia te pakeke o ngā pānga kino taea te tutuki ki te awhina o taero me ngā tukanga hauora. hanga ratou whiriwhiri e te rata haere i runga i te pūtake o te mea tohu whakararuraru i te manawanui. Hei tauira, i roto i te matepukupuku kia hiahia hahau, radiation therapy tafa ranei, ki te niho mate - .. ngā tukanga niho, me ētahi atu Cure rawa e kore te mea i tēnei wā taea te māuiuitanga.

I roto i tetahi take, kia whakamahi auau tūroro tikanga e tika te tiaki i te kiri i te radiation hihi katinga, te whakamahi o te huaora me te kohuke tāpiringa (Me waiho ratou wahi o te huaora E), carotenoids (pērā i roto i te puka o tāpiritanga kai, me te kai), me te rongoā, mahi fakatonutonu te pūnaha ārai mate. I roto i ētahi wā, kia whakahaere therapy hormonal.

Tūroro i roto i nei Bloom syndrome, kia kitea te ako mo'uí i te dermatologist me matepukupuku rānei ki mohio nga tohu wawe o te mate pukupuku kiri. Ki te tetahi huringa hihira e hiahia ana ratou i roto i te wa ka taea poto ki te kite i te tākuta.

Tūroro, i runga i te tinana i reira te rota o kiore, he reira pai ki te kia i roto i te atarangi, ka karo te rā tika, kakahu kakahu nui taea huna i te tinana.

outlook

Ko te waitohunga o tūroro ki syndrome o Bloom tei runga i te aha te huru o ngā āhuatanga pathological tahi ratou. Nuinga o ngā wā, mate tūroro rite ki te hua o ngā tukanga oncological whakapeka kakā ranei.

Me kï reira e tūroro e he maimoatanga symptomatic me kei raro i te mātakitaki o te rata, i te tümanako ora nui i roto i rite ki te hunga tūroro kore mahi nei.

ārai

syndrome Ārai Bloom o roto i ngā tamariki ka ngā i roto i te aperaa i te faaipoiporaa ki whanaunga tata. Ko reira i roto i nga tauiwi, i roto i te iho o e mau faaipoiporaa e pā ana tata, kua tino pinepine horapa te mate.

I tua atu, tūtohutia te tokorua taitamariki i mua i haputanga te ki te mamae i te hi'opo'a maitai hauora.