Bloom Syndrome: Izimbangela, Izimpawu kanye Ukwelashwa

Bloom syndrome - isifo ezingavamile azalwa naso, lapho amangqamuzana omuntu abonise ukuntengantenga ocwaningweni. It is ngofuzo ku-autosomal ngendlela esikhubazayo.

Ukwephula esanda ukuhlolelwa lesi sifo futhi kuchazwe 1954 by wesikhumba umsuka American Devid Blum. Simelele usosayensi futhi kwaba igama isifo. Synonym - azalwa naso teleangiektaticheskaya erythema.

Bloom Syndrome ngokuvamile kuthinta abantu ubuzwe Jewish (1 aphume 100 abantu). Lesi sifo kungaba kwabesifazane nabesilisa, kodwa izimpawu yamuva ayizona evelele. Lena kungani abesifazane nge lesi sifo kuthiwa Ngokuvamile akulula ukusithola.

Ingane ogulayo syndrome Bloom, kokubili abazali abathwali kuguquka esicashile kwelinye allele ka isakhi sofuzo BLM. Kusolwa ukuthi izimpawu ezinhlobonhlobo incike onjani kuguquka likhona zofuzo zesiguli. Nokho, lokhu ayikahlanganiswa efakazelwe.

emitholampilo isithombe

Iziguli Bloom Syndrome ngesikhathi sokuzalwa ube nesisindo esincane (cishe 1900-2000 g). Esikhathini esizayo, kunjalo futhi zikhula kancane nengenawo ikhula ngesisindo. Ukuthomba imisiwe, futhi ngisho noma sihamba, ke ayiphelele. In amadoda, ukungazali kuvamile, futhi abesifazane - ngokungavamile ukuya esikhathini ngaphambi kwesikhathi. Naphezu kwakho konke lokhu, ukuthuthukiswa yabo engokwengqondo oluhambisana yobudala kwezinkambiso.

Emavikini ekucala zokuphila iziguli phezu izihlathi, ezindlebeni, ekhaleni futhi ngemuva izandla kukhona Bubbles, erythema futhi uqweqwe. Kaningi lapho luyanda nokuzwela UV ukukhanya. Ngisho iDemo okwatholakala iziguli ezineminyaka engaphansi kwengu ilanga kungaholela ekwakhekeni inethiwekhi semithambo futhi ukulimala isikhumba kobukhulu obuhlukahlukene. Ngemva nokuvulwa isikhumba okufakwe imisebe ku kungase yakha amnyama kakhulu noma elikhanyayo, ezindaweni yoma.

Iziguli abe amasosha omzimba encishisiwe, futhi ngenxa yalokho babhekana izifo ezithathelwanayo, nakho ziyabuya.

Bloom sifo ngokuvamile ehambisana ne-asymmetry we izintamo wethambo ethangeni bese yesifo senhliziyo azalwa naso.

ukubukeka

iziguli Ukubukeka engavamile. Sinenkosi Yekhanda kunalokho ewumngcingo, kwesilevu amancane ekhaleni ovelele ( "inyoni ubuso"). Lokhu kubonakala ikakhulukazi uma ubheka isithombe Bloom syndrome.

Iziguli ngokuvamile ukukhula ongaphakeme, babe nezwi okusezingeni eliphezulu. Kwezinye iziguli, kukhona unyawo sengozini kwezinso amazinyo. Iziguli ngokuvamile esekhala ukuvuvukala nokuvuvukala sezindebe, uyaxebuka kubo. Kwezinye izimo, kukhona ukwephulwa inqubo keratinization kwesikhumba futhi ukuvaleka yayo (libukeka "washington").

ukuhlola

Sifo "Bloom Syndrome" ubeka udokotela, esekelwe esithombeni basemtholampilo yezokwelapha idatha futhi laboratory Imiphumela lesiguli.

On luhlolo kudingekile ukuhlola isimo izivikeli mzimba. Ngo ekuhlaziyweni kweziguli Bloom sika syndrome ukunciphisa olukhulu endleleni inani immunoglobulin ne-T-lymphocyte. Ngaphezu kwalokho, kutuswa ukuba uhlole Ukuhwebelana udade chromatid.

Lapho uphethwe kubaluleke kabi, hhayi ukudida Bloom syndrome lupus erythematosus syndrome, Dingwall Nile syndrome Rotmunda-Thomson kanye porphyria cutaneous.

Oncology

amasosha omzimba okuphansi futhi khona inani elikhulu yokwanda koshintsho ezahlukene eziholela yokuthi isiguli kakhulu kwandisa amathuba okuba nomdlavuza ngokuphawulekayo. Vuma ngesikhathi esifanayo kungaba kokubili izibilini igazi, izindlala zamanzi, ithambo izicubu.

I pathologies ezivamile okwenzeka kulezi ziguli, yilezi:

• wegazi myeloid;
• lymphoma;
• wegazi lymphocytic;
• izimila ebulalayo we emphinjeni, ulimi namathumbu;
• umdlavuza wamaphaphu;
• carcinoma kwebele.

Okuningi mancane amathuba okuthi sebethole medulloblastoma nomdlavuza izinso.

ukwelashwa

Isiguli ukuhlupheka Bloom syndrome, ukuphathwa kuyoba lingaze. Ukunciphisa ububi besimo sokuguquka imiphumela engasi mihle bungatholakala ngosizo izidakamizwa nezinqubo zezokwelapha. Ukukhetha yabo senziwa udokotela ukuba khona ngesisekelo salokho izimpawu kokuphazamisa isiguli. Ngokwesibonelo, ngo-Oncology kungase kudingeke nokwelashwa ngamakhemikhali, ukwelashwa ngemisebe noma ukuhlinzwa, nezifo namazinyo - .. izinqubo zamazinyo, njll Yelaphani ngokuphelele zokugula okwamanje akunakwenzeka.

Kunoma ikuphi, iziguli kufanele usebenzise njalo izindlela ukuthi thembeke ukuvikela isikhumba emisebeni ultraviolet, ukusetshenziswa amavithamini namaminerali Izithako (kufanele babe ingxenye yesilinganiso sika-vitamin E), carotenoid (ezifana ngesimo izithasiselo zokudla, futhi ukudla) bese imithi, umsebenzi zokulungisa amasosha omzimba. Kwezinye izimo, angase aqhube ukwelashwa kwama-hormone.

Iziguli okungekho Bloom syndrome, ukufunda okuqhubekayo kumele obonwa wesikhumba futhi oncologist ukwazi izimpawu zokuqala umdlavuza wesikhumba oyingozi. Uma noma yiziphi izinguquko osolisayo abakudingayo esikhathini esifishane ukubona udokotela.

Iziguli, emzimbeni lapho eziningi amavukuzi, kuyasiza ukuba emthunzini futhi ugweme elangeni, bagqoke izingubo ngangokunokwenzeka ukufihla umzimba.

ukuba nombono ongafani ngeke

Onalesi sifo kweziguli Bloom Syndrome incike lokunjani sokugembula lokuhamba nabo. Ngokuvamile, iziguli ngife ngenxa acute izinqubo oncological noma i-pneumonia.

Kufanele kuqashelwe ukuthi iziguli ezingakwazi ukwelashwa lingaze futhi ngaphansi kokuqondisa kukadokotela, abe bempilo enkulu lapho beqhathaniswa nalabo ababefundiswe iziguli abangamkhonzi.

zokuvimbela

Prevention Bloom Syndrome ezinganeni izokuba ekugwemeni somshado eziseduze. Kuyinto phakathi kwezizwe, in the isiko okuyinto imishado uhlobene eduze nani, lesi sifo ngokuvamile ukusakaza.

Ngaphezu kwalokho, lo mbhangqwana ngaphambi nje ebamba isisu Kunconywa ukuba ahlolwe ngudokotela.