Bloom kuti chirwere: Zvinokonzera, Zviratidzo neMarapirwo

Bloom chirwere - isingawanzowanikwi vachiberekwa chirwere, sezvamakaropafadzwa masero dzevanhu kuratidza genomic kusagadzikana. Zvinonzi nhaka munzvimbo autosomal recessive nenzira.

Kutyora vachangobva chirwere uye zvinotsanangurwa muna 1954 neboka dermatologist American mavambo Devid Blum. Nokuda musayendisiti uye raiva zita chirwere. Fanano - vachiberekwa teleangiektaticheskaya erythema.

Bloom kuti chirwere anowanzodanwa inobata vanhu vechiJudha nyika (anenge 1 kubva 100 vanhu). The chirwere kunogona vakadzi nevarume, asi vapedzisira zviratidzo zvakawanda raidudzwa. Ndokusaka vakadzi nyonganyonga iri kazhinji misdiagnosed.

A mwana ari kurwara chirwere Bloom, vabereki vose vari vatakuri Isimba rakadini rinogona kubudiswa mutation mune imwe allele pamusoro BLM Gene. Zvinofungirwa kuti siyana zviratidzo kunoenderana worudzii mutation ari majini murwere. Zvisinei, izvi haisati nekusimba.

zvekuchipatara mufananidzo

Varwere Bloom kuti chirwere pakuzvarwa vane shoma uremu (vanenge 1900-2000 g). Mune ramangwana, vanononoka kukura zvakare uye havaratidzi kuwedzera uremu. Pakuyaruka kuri kunonoka, uye kunyange kana wakapfuura, zviri chakaremara. Varume, kushaya mbereko kwakakurumbira, uye vakadzi - zvisinganzwisisiki mangwanani kubereka. Pasinei neizvi, kukura mupfungwa anoenderana nezera dzemunharaunda.

Mumavhiki woupenyu varwere pamatama rokutanga, hura, mhuno uye musana maoko pane matema, erythema uye goko. Kazhinji pane ichiwedzerwa aikanganiswa UV chiedza. Kunyange pfupi kuwanikwa varwere pasi pezuva kungaita kuti paumbwe vascular paIndaneti uye kuvadza ganda kunosiyana nekuomarara. Pashure kupora of irradiated ganda pamusoro zvinogona kuumba kuchakasviba kana zvivara, nzvimbo ine atrophy.

Varwere vane akaderedza kutapata uye vari saka kazhinji atarisana zvinotapuriranwa, idzo recur.

Bloom chirwere rinowanzoshandiswa chokuita asymmetry kwemitsipa yehudyu mapfupa uye vachiberekwa mwoyo chirwere.

chitarisiko

Chitarisiko varwere kujairika. Vane panzvimbo yakamanikana dehenya, chirebvu diki uye akakurumbira mhino ( "chiso shiri"). Izvi zvinonyanya kuoneka kana uchitarisa waSusana Bloom syndrome.

Varwere kazhinji kukura pasi, ave inzwi. Mune vamwe varwere, pane rutsoka deformities uye abnormalities kwemeno. Varwere kazhinji chokunyunyuta pamusoro kuzvimba uye kuzvimba nemiromo, peeling pavo. Mune zvimwe zviitiko, pane kutyora nedanho keratinization ganda rayo blockage (sokunge "hanzi anorovera").

Diagnostics

Chirwere "Bloom Syndrome" anoisa chiremba, zvichibva kunotoda mufananidzo murwere kunotoda mashoko uye mumarabhoritari zvabuda.

On kuongororwa zvakakodzera kuongorora mamiriro dziviriro yezvirwere mumuviri. In kuongorora varwere Bloom kuti chirwere segwapa zvinoderedza uwandu immunoglobulin uye T-lymphocytes. Uyezve, Zvinokurudzirwa kuti vaongorore hanzvadzi chromatid exchanges.

Kana chirwere kunokosha kwete kuvhiringidza pamwe Bloom chirwere lupus erythematosus chirwere, Dingwall Nile chirwere Rotmunda-Thomson uye cutaneous porphyria.

oncology

Low kutapata uye kuvapo vakawanda kunotouraya siyana kukonzera kuti murwere zvinoshamisa kunowedzera mukana wokuti kenza. Kutambura panguva kunogona zvomukati uye ropa, node, mapfupa tishu.

Rakajairika pathologies zvichiitika varwere ndivo:

• myeloid neleukemia;
• rwekenza yelymphoma;
• lymphocytic neleukemia;
• Nyanyisa mapundu ose yegurokuro, rurimi uye ura;
• kenza yemapapu;
• carcinoma of zamu.

Zvikuru kashoma kuti chirwere medulloblastoma uye kenza itsvo.

mabatiro

A murwere kutambura Bloom urwere, mishonga achava symptomatic. Kuderedza kwokuomerwa kusawirirana zvinogona kuitwa tichibatsirwa zvinodhaka uye kurapwa. Avo vakasarudzwa chinoitwa neDare kupinda chiremba pachishandiswa zviratidzo chii kukanganisa murwere. Somuenzaniso, muna oncology vangada mishonga, nemwaranzi kurapa kana pokuvhiyiwa, nezvirwere mazino - .. Dental dzokuvhiya, etc. Rapai zvachose nokuda zvokurwara haisi Pari zvinobvira.

Chero zvazvingava, varwere vanofanira kugara kushandisa nzira kuti yakavimbika kudzivirira ganda kubva ultraviolet nemwaranzi, kushandiswa vhitamini uye chicherwa zvokuwedzera (vanofanira kuva chikamu vhitamini E), carotenoids (dzakadai muchimiro yokuvirisa zvokudya, uye zvokudya) uye mishonga, kwokururamisa basa dziviriro yezvirwere mumuviri. Mune zvimwe zviitiko, vangave kuitisa hormone kurapa.

Varwere maari Bloom urwere, kudzidza youpenyu hwose tinofanira kuonekwa munhu dermatologist uye oncologist kuziva vepakutanga zviratidzo kenza ganda. Kana kufungira kuchinja zvavanoda pfupi inobvira nguva kuona chiremba.

Varwere, pamusoro muviri apo yakawanda moles, zvinobatsira kuva mumumvuri uye kudzivisa yakananga chezuva, vanopfeka mbatya napo achivanza muviri.

mataridzikiro

The fungidziro varwere Bloom kuti urwere hunobva worudzii pathological ezvinhu navo. Kakawanda, varwere vanofa somugumisiro chakasimba oncological pezvakaitwa kana nemabayo.

Zvinofanira kucherechedzwa kuti varwere vari symptomatic kurapwa uye vari pasi pokudzora chiremba, kuva mukuru upenyu hunotarisirwa tichienzanisa avo varwere vasingamushumiri.

dziviriro

chirwere Prevention Bloom muna vana panofanira usanwa kuroorana naye pedyo nehama. Zviri pakati pamarudzi, iri tsika iyo kufanana michato, maperembudzi inonyanyoshandiswa kupararira.

Uyezve, musikana vaviri vasati pakunambwa inokurudzirwa narwo kuchipatara Kunyatsoongororwa.