Hnub no, qhov tsos ntawm tus neeg ua lub luag haujlwm tseem ceeb. Tab sis, hmoov tsis, nws tshwm sim hais tias tej zaum ib tug tsis ua hauj lwm tshwm sim nyob rau hauv lub cev, thiab ib yam dab tsi nyob rau hauv lub cev pib ua hauj lwm tag nrho txawv tshaj li qhov yuav tsum tau. Nws yog qhov tseeb xws li qhov teeb meem uas cuam tshuam rau cov tsos ntawm tus neeg, yog xeroderma pigmentosum. Tus kab mob no yog dab tsi thiab txhua yam tseem ceeb ntawm tus kab mob - qhov no yuav tham ntxiv.
Terminology
Pib, koj yuav tsum nkag siab tias nws yog dab tsi. Yog li, pigment xeroderma yog kab mob ntawm daim tawv nqaij uas yog los ntawm noob neej. Tib lub sijhawm, tib neeg daim tawv nqaij yog hypersensitive rau hnub ci hluav taws xob. Hauv qhov no, tus mob no feem ntau hu ua precancerous los ntawm kws kho mob. Hauv kev kho mob, cov kab mob no yog kab mob autosomal recessive DNA, thaum cov hlwb lawv tus kheej tsis tuaj yeem kho qhov khoob lossis tawg hauv cov molecules.
Dab tsi ntxiv koj yuav tsum paub txog kev kuaj mob xeroderma pigmentosa? Hom kev qub txeeg qub teg, raws li tau hais los saum no, yog autosomal recessive. Txawm li cas los xij, cov kws tshawb fawb tau sau tseg tias nws tuaj yeem ua autosomal dominant, nrog rau qee qhov txuas rau kev sib deev chromosome.
Qee cov txheeb cais thiab nta
Yog tias peb tham txog cov tebchaws tsim, xeroderma pigmentosa tshwm sim hauv ib tus neeg rau 1 lab tus neeg nyob. Txawm li cas los xij, hauv Suav teb, daim duab no ntau dua - 1 tus neeg mob rau 100,000 tus neeg nyob hauv. Cov kws tshawb fawb kuj tau sau tseg tias daim ntawv ntawm tus kab mob no feem ntau yog rau cov zej zog kaw, pab pawg, hu ua cais, tsim raws li kev ntseeg tshwj xeeb (piv txwv li, cov zej zog kev ntseeg). Tsis tas li ntawd, qhov teeb meem no yog keeb kwm thiab kis los ntawm niam txiv mus rau tus menyuam. Cov kws kho mob hais tias tus kab mob no feem ntau tshwm sim nyob rau hauv rooj plaub ntawm kev sib yuav ntawm cov neeg txheeb ze los ntawm cov ntshav.
Pom kab mob
xeroderma pigmentosa zoo li cas? Nyob rau ntawm daim tawv nqaij ntawm ib tug neeg muaj ib tug tshwj xeeb pigmentation. Qhov no tshwm sim los ntawm kev raug tus neeg mob daim tawv nqaij ntawm ultraviolet hluav taws xob. Tab sis yog tias cov neeg noj qab haus huv muaj cov enzymes tshwj xeeb uas tiv thaiv qhov tshwm sim ntawm cov pob no, tom qab ntawd hauv cov neeg mob no lawv tsis ua haujlwm. Nws yog txhua yam los liam - kev hloov pauv hauv cov protein uas yog lub luag haujlwm rau kev kho cov ntaub so ntswg tom qab muaj kev cuam tshuam. Mutated cells maj mam nce hauv lub cev, ua rau mob qog noj ntshav. Ntxiv nrog rau ultraviolet, nws yuav tsum tau muab sau tseg tias tus neeg mob daim tawv nqaij kuj rhiab heev rau hluav taws xob (ionizing) hluav taws xob.
Hais txog hom kab mob
Kuv kuj xav kom nco ntsoov tias muaj ntau hom xeroderma pigmentosa. Nyob rau hauv tag nrho, xya ntawm lawv txawv, thiab lawv txawv nyob rau hauv cov tsiaj ntawv: A, B, C, D, E, F, G. Txhua yam ntawm no yog muab ib tug tshwj xeeb.mutated noob. Cov yam ntxwv ntawm qhov sib txawv no tseem tab tom kawm los ntawm cov kws tshawb fawb. Tsis tas li ntawd, hom yim yog qhov txawv - Young's pigmented xerodermoid. Txawm li cas los xij, nws yuav tsum tau hais tias nyob rau hauv rooj plaub no qhov teeb meem tseem ceeb tsis paub txhua.
Symptomatics
Nws yuav tsum tau hais tias xeroderma pigmentosum tsis kuaj pom thaum yug. Cov menyuam mos yug los ib txwm, tsis muaj qhov tshwm sim ntawm daim tawv nqaij. Thawj cov tsos mob pib tshwm sim nyob ib ncig ntawm 3 lub hlis - 3 xyoos, txawm li cas los xij, qhov pib ntxov lossis tom qab ntawm cov txheej txheem tuaj yeem ua tau, nyob ntawm lub zog ntawm ultraviolet. Thawj cov tsos mob tshwm sim hauv cov menyuam yaus:
- teary eyes;
- photophobia;
- possible conjunctivitis;
- kab mob tuaj yeem tshwm sim raws li photodermatitis.
Cov pob tshwm rau ntawm tus menyuam lub cev, zoo ib yam li moles lossis freckles. Maj mam lawv tus lej nce. Qhov no yog vim kev ua txhaum ntawm cov txheej txheem pigmentation. Lwm cov tsos mob tseem tshwm sim:
- Telangiectasia, uas yog, cov hlab ntsha ntawm daim tawv nqaij yog dilated.
- Tej zaum kuj yuav muaj hyperkeratosis, thaum cov hlwb sib faib sai heev, thiab lawv cov txheej txheem desquamation raug txwv. Yog li ntawd, keratinization ntawm daim tawv nqaij yuav tshwm sim.
- Ntxhais tawv nqaij qhuav.
daim duab kho mob
kab mob ntawm daim tawv nqaij muaj xws li cov kab mob: xeroderma pigmentosa, reticular progressive melanosis, Peak's melanosis, uas,qhov tseeb, yog tib yam kab mob. Daim duab kho mob tau muab faib ua peb hom:
- mob. Freckle-zoo li me ntsis tshwm rau ntawm qhov chaw qhib ntawm daim tawv nqaij. Maj mam, cov nplai zoo li lentigo tshwm.
- Hyperkeratic theem. Ntawm daim tawv nqaij, cov Islands tuaj yeem hloov pauv los ntawm kev sib txuam ntawm freckles, nplai, cov ntsiab lus xws li lentigo. Txhua yam zoo ib yam li daim duab ntawm cov kab mob dermatitis ntev. Qee zaum yuav muaj warty formations. Tag nrho cov kev hloov pauv ntawm atrophic maj mam ua rau cov pob txha mos ntawm lub qhov ntswg, auricles, ntuj qhib tuaj yeem deformed. Tsis tas li ntawd nyob rau theem no, baldness, poob ntawm cov plaub muag yog ua tau. Lub cornea tej zaum yuav pos huab, photophobic thiab teary.
- Thaum kawg, qhov teeb meem hla ciam teb mob qog noj ntshav. Ob leeg benign thiab malignant neoplasms tshwm rau ntawm daim tawv nqaij.
Neuralgic nta
Kwv yees li txhua tus neeg mob thib tsib nrog qhov kev kuaj mob no muaj qhov txawv txav ntawm neuralgic. Tej zaum yuav muaj kev puas hlwb retardation, areflexia (tsis muaj reflexes). Nws tseem ceeb heev uas yuav tsum nco ntsoov tias cov xim xeroderma feem ntau cuam tshuam nrog cov kab mob xws li:
- Reed's syndrome, thaum qhov kev loj hlob ntawm lub pob txha qeeb qeeb, lub cranium txo qis, muaj qhov qeeb ntawm kev loj hlob ntawm lub cev thiab lub hlwb.
- De Sanctis-Cacchione syndrome, thaum muaj kev cuam tshuam hauv nruab nrab paj hlwb tshwm sim nrog rau cov tawv nqaij tshwm sim.
Ua rau kab mob
Dab tsikoj yuav tsum paub txog qhov teeb meem xws li xeroderma pigmentosa? Ua rau, cov tsos mob ntawm tus kab mob? Yog hais tias txhua yam yog meej nrog cov tsos mob ntawm tus kab mob, ces nws yog lub sij hawm mus nrhiav seb dab tsi raws nraim provokes nws tshwm sim. Raws li nws twb tau paub meej lawm, qhov no yog ib qho kev hloov pauv noob tshwj xeeb thaum tus neeg ua txhaum yog autosomal gene kis los ntawm niam txiv. Tsis tas li ntawd, hauv cov hlwb ntawm tus neeg mob tsis muaj UV endonuclease enzymes, tej zaum yuav muaj qhov tsis txaus ntawm RNA polymerase. Cov kws tshawb fawb tseem hais tias qhov ua rau ntawm kev txhim kho pathology tuaj yeem yog qhov nce hauv tib neeg ib puag ncig ntawm porphyrins, tshwj xeeb enzymes uas cuam tshuam rau daim tawv nqaij.
Diagnosis
Qhov cuam tshuam ntawm cov xim xeroderma hnub no yog qhov siab heev. Tom qab tag nrho, cov neeg coob coob tau sim nyob rau hauv lub hnub ntau zaus, tsis ntshai ntawm kev ua ntawm UV rays. Thiab qhov no tsis yog lawm. Txawm hais tias ib tug neeg tsis raug hem los ntawm tus kab mob no, nws yog qhov zoo tshaj kom nthuav tawm cov tawv nqaij kom tsawg kawg nkaus ntawm lub hnub ci hluav taws xob. Yuav kuaj tus kab mob no li cas?
- Kev tshuaj xyuas ntawm daim tawv nqaij nrog lub monochromator, ib qho cuab yeej tshwj xeeb uas txiav txim siab theem ntawm lub teeb rhiab heev ntawm daim tawv nqaij.
- kauj ruam tom ntej yog kev kuaj ntshav. Hauv qhov no, cov khoom ntawm neoplasms ntawm tus neeg mob daim tawv nqaij raug tshuaj xyuas.
- Cov ntaub so ntswg coj mus kuaj thaum kuaj biopsy.
Kho qhov teeb meem
Yog tias tus neeg mob tau kuaj pom muaj xeroderma pigmentosa, kev kho tus neeg mob yogqhov ntawd yog qhov tseem ceeb heev. Yog li, tus neeg yuav tsum ua raws li tus kws kho mob cov lus qhia:
- Koj yuav tsum mus ntsib kws kho hniav tsis tu ncua.
- Nyob rau theem pib, cov tshuaj tiv thaiv kab mob tau siv nquag (piv txwv li, Delagil lossis Rezokhin), uas txo cov tawv nqaij kom pom kev.
- Vitamin kho yog yuav tsum tau los txhawb lub cev. Hauv qhov no, koj yuav tsum noj nicotinic acid (vitamin PP), retinol (qhov no yog vitamin A), nrog rau cov vitamins ntawm pab pawg B hauv complex.
- Yog cov nplais flaky tsim ntawm daim tawv nqaij, ces lawv yuav tsum tau kho nrog tshuaj pleev raws li corticosteroids.
- Yog tias pob txuv tshwm rau ntawm daim tawv nqaij, ces koj yuav tau siv tshuaj pleev nrog cytostatics, lub luag haujlwm tseem ceeb ntawm kev tiv thaiv kab mob ntxiv.
- Qee zaum cov neeg mob yuav tsum tau haus cov tshuaj tiv thaiv kab mob, ua lwm yam lus, tshuaj tiv thaiv kab mob, piv txwv li, Tavegil lossis Suprastin, lossis cov tshuaj desensitizing uas ua rau tsis muaj kev fab tshuaj.
- Thaum tus neeg mob daim tawv nqaij raug mob, piv txwv li, thaum lub caij ntuj sov, tus neeg mob tau muab tshuaj tiv thaiv UV los yog tshuaj tsuag.
- Yog tias muaj kev hem thawj ntawm kev tsim cov qog, tus neeg mob yuav tsum tau sau npe tsis yog nrog tus kws kho mob oncologist, tab sis kuj tau kuaj xyuas ib ntus los ntawm pab pawg ntawm lwm tus kws tshaj lij: kws kho mob dermatologist, kws kho qhov muag thiab kws kho mob neuropathologist.
- Kev loj hlob ntawm daim tawv nqaij, txawm tias warty sawv daws yuav tsum tau phais.
