Genetic pathologies yog cov kab mob uas tsis tshua muaj tshwm sim uas nyuaj rau kev twv ua ntej. Lawv tshwm sim txawm nyob rau lub sij hawm thaum tsim ntawm embryo tshwm sim. Feem ntau lawv kis tau los ntawm niam txiv, tab sis qhov no tsis yog ib txwm muaj. Qee zaum, cov kab mob gene tshwm sim ntawm lawv tus kheej. Bruton tus kab mob yog suav tias yog ib qho ntawm cov kab mob no. Nws belongs rau thawj immunodeficiency xeev. Tus kab mob no tau pom tsis ntev los no, nyob rau hauv nruab nrab ntawm lub xyoo pua 20th. Yog li ntawd, nws tsis tau kawm tiav los ntawm kws kho mob. Nws yog qhov tsawg heev, tsuas yog hauv cov tub.
Bruton's disease: keeb kwm ntawm kev kawm
Cov kab mob no hais txog X-txuas chromosomal abnormalities kis ntawm qib caj ces. Bruton tus kab mob yog tus yam ntxwv los ntawm impaired humoral tiv thaiv. Nws cov tsos mob tseem ceeb yog susceptibility rau kis kab mob. Thawj qhov hais txog qhov pathology no poob rau xyoo 1952. Lub sijhawm ntawd, tus kws tshawb fawb Asmeskas Bruton tau kawm txog anamnesis ntawm tus menyuam yaus uas tau mob ntau dua 10 zaug thaum muaj hnub nyoog 4 xyoos. Ntawm cov txheej txheem kis tau tus tub no yog sepsis, pneumonia, meningitis, o ntawm lub ntsws sab sauv. Thaum kuaj tus me nyuamtau pom tias tsis muaj cov tshuaj tiv thaiv kab mob no. Hauv lwm lo lus, tsis muaj lub cev tiv thaiv kab mob tom qab kis kab mob.
Tom qab ntawd, thaum kawg ntawm lub xyoo pua 20th, Bruton tus kab mob tau rov kawm los ntawm cov kws kho mob. Xyoo 1993, cov kws kho mob tuaj yeem txheeb xyuas cov noob tsis zoo uas ua rau muaj kev tiv thaiv kab mob.
Caus ntawm Bruton's disease
Agammaglobulinemia (Bruton's disease) feem ntau yog los ntawm keeb kwm. Qhov tsis xws luag yog suav tias yog ib qho kev ua tsis zoo, yog li qhov tshwm sim ntawm kev muaj menyuam nrog pathology yog 25%. Cov neeg nqa khoom ntawm cov noob caj noob ces yog poj niam. Qhov no yog vim qhov tseeb tias qhov tsis xws luag yog nyob rau ntawm X chromosome. Txawm li cas los xij, tus kab mob tsuas yog kis mus rau txiv neej pw. Qhov laj thawj tseem ceeb ntawm agammaglobulinemia yog cov protein tsis zoo uas yog ib feem ntawm cov noob encoding tyrosine kinase. Tsis tas li ntawd, Bruton tus kab mob tuaj yeem ua rau idiopathic. Qhov no txhais tau tias yog vim li cas rau nws cov tsos tseem tsis meej. Ntawm cov kev pheej hmoo uas cuam tshuam rau cov kab mob caj ces ntawm tus menyuam, muaj:
- Cawv thiab yeeb tshuaj thaum cev xeeb tub.
- Psycho-emotional overstrain.
- Kev raug ionizing hluav taws xob.
- Tshuaj lom neeg (tshuaj lom neeg, ib puag ncig tsis zoo).
Tus kab mob yog dab tsi?
Lub tshuab ntawm kev loj hlob ntawm tus kab mob yog txuam nrog cov protein tsis zoo. Feem ntau, cov noob ua lub luag haujlwm rau kev encoding tyrosine kinase yog koom nrog hauv kev tsim B-lymphocytes. Lawv yog cov tshuaj tiv thaiv kab mob uas tebrau humoral tiv thaiv lub cev. Vim qhov ua tsis tiav ntawm tyrosine kinase, B-lymphocytes tsis loj hlob. Yog li ntawd, lawv tsis muaj peev xwm tsim cov tshuaj immunoglobulins - cov tshuaj tiv thaiv. Lub pathogenesis ntawm Bruton tus kab mob yog tag nrho thaiv kev tiv thaiv humoral. Yog li ntawd, thaum cov kab mob nkag mus rau hauv lub cev, cov tshuaj tiv thaiv rau lawv tsis tsim. Ib qho tshwj xeeb ntawm tus kab mob no yog lub cev tiv thaiv kab mob tuaj yeem tua cov kab mob, txawm tias tsis muaj B-lymphocytes. Qhov xwm txheej ntawm kev ua txhaum ntawm kev tiv thaiv kev humoral nyob ntawm qhov hnyav ntawm qhov tsis xws luag.
Bruton tus kab mob: cov tsos mob ntawm pathology
Pathology ua ntej ua rau nws tus kheej hnov thaum me nyuam mos. Feem ntau, tus kab mob manifests nws tus kheej los ntawm 3-4 lub hlis ntawm lub neej. Qhov no yog vim lub fact tias nyob rau hauv lub hnub nyoog no tus me nyuam lub cev tsis tiv thaiv leej niam antibodies. Thawj cov cim qhia ntawm pathology yuav yog qhov mob tshwm sim tom qab txhaj tshuaj tiv thaiv, ua pob khaus ntawm daim tawv nqaij, kis kab mob ntawm sab sauv lossis sab hauv ua pa. Txawm li cas los xij, kev pub niam mis tiv thaiv tus menyuam los ntawm cov txheej txheem inflammatory, vim niam cov kua mis muaj cov tshuaj immunoglobulins.
Bruton tus kab mob tshwm sim nws tus kheej thaum muaj hnub nyoog 4 xyoos. Lub sijhawm no, tus menyuam pib sib cuag nrog lwm tus menyuam yaus, mus kawm qib kindergarten. Ntawm cov kab mob kis, meningo-, strepto- thiab staphylococcal microflora predominates. Yog li ntawd, cov menyuam yaus tuaj yeem ua rau mob purulent. Cov kab mob feem ntau muaj xws li mob ntsws, sinusitis, otitis media, sinusitis, meningitis, conjunctivitis. NtawmKev kho tsis raws sijhawm, tag nrho cov txheej txheem no tuaj yeem hloov mus ua sepsis. Dermatological pathologies kuj tuaj yeem yog qhov tshwm sim ntawm Bruton tus kab mob. Vim qhov txo qis hauv lub cev tiv thaiv kab mob, cov kab mob kis tau sai sai ntawm qhov chaw ntawm qhov txhab thiab khawb.
Ntxiv rau, qhov tshwm sim ntawm tus kab mob suav nrog bronchiectasis - kev hloov pauv hauv lub ntsws. Cov tsos mob yog ua tsis taus pa luv, mob hauv siab, thiab qee zaum hemoptysis. Nws kuj tseem tuaj yeem ua rau cov tsos mob ntawm foci nyob rau hauv lub plab zom mov, lub genitourinary system, ntawm cov mucous daim nyias nyias. o thiab mob nyob rau hauv cov pob qij txha tau pom ib ntus.
Cov txheej txheem kuaj mob rau tus kab mob
Thawj qhov kev kuaj mob yuav tsum suav nrog kev mob tsis tu ncua. Cov menyuam yaus raug kev txom nyem los ntawm Bruton tus kab mob raug ntau dua 10 tus kab mob hauv ib xyoos, nrog rau ntau zaus hauv lub hli. Cov kab mob tuaj yeem rov ua dua lossis hloov ib leeg (otitis media, tonsillitis, mob ntsws). Thaum kuaj lub pharynx, tsis muaj hypertrophy ntawm tonsils. Tib yam siv rau palpation ntawm peripheral lymph nodes. Koj yuav tsum tau saib xyuas cov tshuaj tiv thaiv ntawm tus menyuam tom qab txhaj tshuaj. Cov kev hloov pauv tseem ceeb tau pom nyob rau hauv kev sim kuaj. Hauv KLA, muaj cov cim qhia ntawm cov tshuaj tiv thaiv kab mob (nce cov leukocytes, nrawm ESR). Nyob rau tib lub sijhawm, tus lej ntawm lub cev tiv thaiv kab mob txo qis. Qhov no tau tshwm sim nyob rau hauv cov mis leukocyte: ib tug me me ntawm lymphocytes thiab ib tug ntxiv cov ntsiab lus ntawm neutrophils. Ib qho kev tshawb fawb tseem ceeb yog immunogram. Nws qhia txog qhov txo qis lossis tsis muaj cov tshuaj tiv thaiv kab mob. Qhov no feature tso cai rau koj mus teemkuaj mob. Yog tias tus kws kho mob tsis ntseeg, kuaj kab mob tuaj yeem ua tiav.
Qhov txawv ntawm Bruton tus kab mob thiab cov kab mob zoo sib xws
Cov kab mob no txawv ntawm lwm yam kev tiv thaiv kab mob hauv nruab nrab thiab theem nrab. Ntawm lawv yog Swiss-type agammaglobulinemia, DiGeorge syndrome, HIV. Nyob rau hauv sib piv rau cov pathologies, Bruton tus kab mob yog tus cwj pwm los ntawm kev ua txhaum ntawm tsuas yog humoral tiv thaiv. Qhov no yog manifested los ntawm qhov tseeb hais tias lub cev muaj peev xwm mus tua cov kab mob. Qhov no txawv ntawm Swiss-type agammaglobulinemia, uas ob qho tib si humoral thiab cellular tiv thaiv kab mob tsis zoo. Txhawm rau ua qhov kev kuaj mob sib txawv nrog DiGeorge syndrome, nws yuav tsum tau kuaj lub hauv siab x-ray (thymus aplasia) thiab txiav txim siab cov ntsiab lus calcium. Txhawm rau tshem tawm cov kab mob HIV, palpation ntawm cov qog nqaij hlav, ELISA tau ua.
Kev kho mob Agammaglobulinemia
Hmoov tsis zoo, nws tsis yooj yim sua kom kov yeej Bruton tus kab mob. Cov kev kho mob rau agammaglobulinemia suav nrog kev hloov pauv thiab cov tsos mob kho. Lub hom phiaj tseem ceeb yog kom ua tiav qib ib txwm muaj ntawm immunoglobulins hauv cov ntshav. Tus nqi ntawm cov tshuaj tiv thaiv yuav tsum yog ze li 3 g / l. Rau qhov no, gamma globulin yog siv ntawm tus nqi ntawm 400 mg / kg ntawm lub cev qhov hnyav. Qhov concentration ntawm cov tshuaj tiv thaiv yuav tsum tau nce ntxiv thaum lub sij hawm kis kab mob, vim lub cev tsis tuaj yeem tiv nrog lawv tus kheej.
Ntxiv rau, kev kho mob tau ua tiav. Feem ntau tau sau tsegCov tshuaj tua kab mob "Ceftriaxone", "Penicillin", "Ciprofloxacin". Cov tawv nqaij tshwm sim yuav tsum tau kho cov tshuaj pleev ib ce. Nws kuj pom zoo kom ntxuav cov mucous daim nyias nyias nrog cov tshuaj tua kab mob (kua dej hauv caj pas thiab qhov ntswg).
Kev Ntsuas rau Bruton's agammaglobulinemia
Txawm hais tias kev kho mob tas mus li, qhov kev cia siab rau agammaglobulinemia yog qhov zoo. Kev kho mob tsis tu ncua thiab kev tiv thaiv cov txheej txheem kis tau zoo txo qhov xwm txheej kom tsawg. Cov neeg mob feem ntau tseem muaj peev xwm-lub cev thiab nquag. Nrog rau txoj hauv kev tsis ncaj ncees rau kev kho mob, kev txhim kho ntawm cov teeb meem mus txog sepsis yog ua tau. Nyob rau hauv cov ntaub ntawv ntawm tus kab mob siab heev, qhov kev cia siab yog tsis zoo.
Kev Tiv Thaiv Kab Mob Bruton
Yog tias muaj kab mob hauv cov txheeb ze lossis cov neeg tsis txaus ntseeg, nws yuav tsum tau kuaj xyuas caj ces thaum thawj peb lub hlis twg ntawm cev xeeb tub. Tsis tas li ntawd, kev tiv thaiv kev tiv thaiv yuav tsum suav nrog huab cua, tsis muaj kev kis kab mob ntev thiab muaj kev phom sij. Thaum cev xeeb tub, leej niam yog contraindicated nyob rau hauv kev ntxhov siab. Kev tiv thaiv thib ob suav nrog kev kho cov tshuaj vitamin, kev qhia txog gamma globulin, kev noj qab haus huv ntawm lub neej. Nws tseem ceeb heev kom tsis txhob sib cuag nrog cov neeg muaj mob.
