Bloom's syndrome yog ib qho mob tsis tshua muaj tshwm sim uas tib neeg lub hlwb pom muaj kev tsis sib haum xeeb. Nws tau txais qub txeeg qub teg hauv autosomal recessive yam.
Tus kab mob no tau kuaj pom thawj zaug thiab tau piav qhia hauv xyoo 1954 los ntawm tus kws kho mob dermatologist David Bloom. Sawv cev ntawm tus kws tshawb fawb no, lub npe ntawm pathology tuaj txog. Synonym - congenital telangiectatic erythema.
Feem ntau, Bloom's syndrome cuam tshuam rau cov neeg ntawm haiv neeg Yudais (kwv yees li 1 tus neeg ntawm 100). Tus kab mob tuaj yeem yog ob qho tib si hauv cov poj niam thiab cov txiv neej, tab sis tom kawg, cov tsos mob tshwm sim ntau dua. Yog vim li cas cov poj niam uas muaj tus kab mob no feem ntau misdiagnosed.
Nyob rau hauv ib tug me nyuam uas muaj Bloom's syndrome, ob leeg niam txiv yog latent muaj kev hloov pauv hauv ib qho allele ntawm BLM gene. Nws tau xav tias ntau yam ntawm cov tsos mob nyob ntawm seb qhov kev hloov pauv muaj nyob rau hauv cov noob ntawm tus neeg mob. Txawm li cas los xij, qhov no tseem tsis tau muaj pov thawj.
daim duab kho mob
Cov neeg mob Bloom's syndrome yog me me thaum yug me nyuam (kwv yees li 1900-2000 g). Nyob rau hauv lub neej yav tom ntej, lawv kuj loj hlob qeeb thiab nce qhov hnyav tsis zoo. Puberty yog ncua, thiab txawm tiasnws dhau mus, nws muaj kev puas tsuaj. Infertility yog muaj nyob rau hauv cov txiv neej, thiab txawv txav thaum ntxov menopause nyob rau hauv cov poj niam. Txawm li cas los xij, lawv txoj kev loj hlob ntawm kev puas siab puas ntsws sib raug raws li cov hnub nyoog.
Nyob rau hauv thawj lub limtiam ntawm lub neej, hlwv, erythema thiab crusts tshwm nyob rau ntawm lub puab tsaig, pob ntseg, qhov ntswg thiab nraub qaum ntawm txhais tes. Feem ntau muaj qhov rhiab heev rau lub teeb ultraviolet. Txawm tias ib lub sijhawm luv luv ntawm cov neeg mob nyob rau hauv lub hnub tuaj yeem ua rau tsim cov vascular network thiab kev puas tsuaj rau daim tawv nqaij ntawm qhov sib txawv. Tom qab kho dua ntawm daim tawv nqaij irradiated, tsaus los yog lub teeb me ntsis, cov cheeb tsam nrog atrophy tuaj yeem tsim rau nws.
Cov neeg mob tau txo qis kev tiv thaiv thiab yog li feem ntau ntsib cov kab mob sib kis, uas kuj rov zoo.
Bloom's syndrome feem ntau ua ke nrog asymmetry ntawm lub caj dab femoral thiab congenital heart defects.
Zoo
Cov tsos mob ntawm cov neeg mob tsis yog tus qauv. Lawv muaj lub taub hau nqaim, lub puab tsaig me me thiab lub qhov ntswg protruding ("noog ntsej muag"). Qhov no yog qhov tseeb tshwj xeeb yog tias koj saib daim duab ntawm Bloom's syndrome.
Cov neeg mob feem ntau luv luv, muaj suab nrov. Qee cov neeg mob uas muaj ko taw deformities thiab kho hniav anomalies. Cov neeg mob feem ntau yws yws ntawm qhov mob thiab o ntawm daim di ncauj, lawv tev. Qee zaum, muaj kev ua txhaum ntawm cov txheej txheem ntawm keratinization ntawm daim tawv nqaij thiab nws cov blockage (zoo li "goosebumps").
Diagnosis
Kev kuaj mob ntawm "Bloom's Syndrome" yog tsim los ntawm kws kho mob, raws li daim duab kho mob ntawm tus neeg mob tus mobthiab lab data.
Thaum lub sijhawm kuaj, kev ntsuas ntawm lub xeev ntawm lub cev tiv thaiv kab mob yog qhov yuav tsum tau ua. Hauv kev tshuaj xyuas cov neeg mob uas muaj Bloom's syndrome, yuav muaj qhov txo qis ntawm cov immunoglobulins thiab T-lymphocytes. Tsis tas li ntawd, kev ntsuam xyuas ntawm tus muam chromatid exchanges yog pom zoo.
Thaum kuaj mob, nws yog ib qho tseem ceeb kom tsis txhob cuam tshuam Bloom's syndrome nrog lupus erythematosus, Neil-Dingwall syndrome, Rothmund-Thomson syndrome thiab cutaneous porphyria.
Oncology
Kev tiv thaiv qis thiab muaj ntau qhov sib txawv ntawm qhov sib txawv ua rau qhov tseeb tias tus neeg mob muaj qhov ua tau zoo ntawm oncology. Hauv qhov no, ob qho tib si hauv nruab nrog cev thiab cov ntshav, lymph, thiab cov pob txha tuaj yeem raug kev txom nyem.
Cov kab mob tshwm sim ntau tshaj plaws uas tshwm sim hauv pawg neeg mob no suav nrog:
- myeloid leukemia;
- lymphoma;
- lymphocytic leukemia;
- malignant qog ntawm txoj hlab pas, tus nplaig thiab txoj hnyuv;
- ntsws cancer;
- mob qog noj ntshav.
Medulloblastoma thiab mob qog noj ntshav raum tsis tshua muaj ntau.
Kev kho mob
Tus neeg mob uas mob los ntawm Bloom's syndrome yuav raug kho raws li cov tsos mob. Kev txo qis qhov tshwm sim tsis zoo tuaj yeem ua tiav nrog kev pab ntawm cov tshuaj thiab cov txheej txheem kho mob. Lawv qhov kev xaiv yog ua los ntawm tus kws kho mob uas tuaj koom raws li cov tsos mob dab tsi cuam tshuam tus neeg mob. Yog li, rau oncology, chemotherapy, hluav taws xob kho mob lossis phais yuav tsum tau, rau cov kab mob ntawm cov hniav - kho hniavCov txheej txheem, thiab lwm yam. Tam sim no nws tsis tuaj yeem kho cov kab mob kom tiav.
Txawm li cas los xij, cov neeg mob yuav tsum tsis tu ncua siv cov khoom lag luam uas ntseeg siab tiv thaiv daim tawv nqaij los ntawm hluav taws xob ultraviolet, siv cov vitamin-mineral complexes (lawv yuav tsum suav nrog vitamin E), carotenoids (ob qho tib si hauv daim ntawv ntawm cov khoom noj thiab cov khoom noj) thiab tshuaj uas kho qhov ua haujlwm ntawm lub cev tiv thaiv kab mob. Qee zaum, kev kho tshuaj hormone yog ua tau.
Cov neeg mob uas muaj Bloom's syndrome yuav tsum tau saib xyuas los ntawm kws kho mob dermatologist thiab tus kws kho mob oncologist thoob plaws lawv lub neej, kom paub txog thawj cov tsos mob ntawm daim tawv nqaij. Yog muaj tej yam txawv txawv, lawv yuav tsum mus ntsib kws kho mob sai li sai tau.
Cov neeg mob uas muaj cov cim yug ntau ntawm lawv lub cev, nws yog qhov tsim nyog yuav tsum tau nyob hauv qhov ntxoov ntxoo thiab zam kev tshav ntuj ncaj qha, hnav khaub ncaws uas zais lub cev ntau li ntau tau.
Huab cua
Qhov kev cia siab ntawm cov neeg mob uas muaj Bloom's syndrome ncaj qha nyob ntawm seb cov kab mob pathological nrog lawv li cas. Feem ntau, cov neeg mob tuag vim yog mob oncological txheej txheem los yog mob ntsws.
Nws tsim nyog sau cia tias cov neeg mob uas tau txais kev kho mob thiab nyob rau hauv kev saib xyuas kev kho mob muaj lub neej ntev dua piv rau cov neeg mob uas tsis ua.
Kev Tiv Thaiv
Kev Tiv Thaiv Bloom's syndrome hauv cov menyuam yaus yuav muaj kev zam kev sib yuav nrog cov txheeb ze ze. Nws yog ntawm cov neeg uas nws cov kab lig kev cai muaj kev sib raug zoo nrog kev sib yuav uas tus kab mob pom tau ntau tshaj plawskev faib tawm.
Ntxiv rau, ob niam txiv hluas tau qhia kom mus kuaj mob kom zoo ua ntej xeeb tub.
