Xeroderma pigmentosum: ua, cov tsos mob, kev piav qhia thiab cov yam ntxwv ntawm kev kho mob

Niaj hnub no, ib tug neeg lub cev ua ib tug tseem ceeb luag hauj lwm. Tab sis, hmoov tsis, nws tshwm sim hais tias tej zaum lub cev tsis, thiab ib yam dab tsi nyob rau hauv lub cev pib ua kiag raws li nws yuav tsum. Nws yog ib qhov teeb meem, uas muaj feem xyuam rau ib tug neeg lub cev yog xeroderma pigmentosum. Yuav ua li cas yog tus kab mob no thiab tag nrho xws li ib qho tseem ceeb txog tus kab mob - qhov no yog thiab yuav mus ntxiv rau nws.

terminology

Chiv, peb yuav tsum to taub nws yog dab tsi. Yog li ntawd, xeroderma pigmentosum - ib tug kab mob ntawm daim tawv nqaij, uas yog raws roj ntsha. Nyob rau hauv cov ntaub ntawv no, tib neeg daim tawv nqaij yog hypersensitive rau tshav ntuj. Nyob rau hauv kev twb kev txuas nrog rau qhov no, tus tam sim no mob ntawm tus neeg mob feem ntau yog tus kws kho mob hu ua precancerous. Yog hais tias peb tham nyob rau hauv kev kho mob cov ntsiab lus, qhov no pathology - yog ib tug autosomal kab mob retsesivnoe DNA thaum hlwb lawv tus kheej muaj peev xwm kho tsis tau kis lossis so nyob rau hauv lub molecules.

Lwm yam uas koj yuav tsum paub txog cov mob "xeroderma pigmentosum"? hom ntawm qub txeeg qub teg, raws li tau hais saum toj no, autosomal retsesivny. Txawm li cas los, zaum nco ntsoov tias tej zaum yuav autosomal hom, tab sis kuj tej txuas rau tus txiv neej pw chromosomes.

Ib txhia statistics thiab cov yam ntxwv

Yog hais tias peb tham txog tsim lub teb chaws, xeroderma pigmentosum pom ib tug neeg ib 1 lab inhabitants. Txawm li cas los, nyob rau hauv Tuam Tshoj lub cev yog ntau dua - 1 tus neeg mob ib 100 txhiab inhabitants. Cov soj ntsuam ntawm kuj taw tes kom paub tias daim ntawv no ntawm tus kab mob no yog yus mas rau gated zej zog, ib pawg, qhov thiaj li hu ua txiag, tsim los ntawm ib tug tshwj xeeb kev ntseeg (piv txwv li, kev cai dab qhuas zej zog). Tsis tas li ntawd, qhov teeb meem no yog raws roj ntsha thiab yog dhau los ntawm leej niam leej txiv rau tus me nyuam. Cov kws kho mob hais tias tus kab mob no yog feem ntau kuj tshwm sim nyob rau hauv cov ntaub ntawv ntawm kev sib yuav ntawm ze ntshav txheeb ze.

Cov tsos ntawm tus kab mob no

Yuav ua li cas yog xeroderma pigmentosum? Nyob rau hauv daim tawv nqaij ntawm ib tug neeg muaj kev tshwj xeeb pigmentation. Qhov no tag nrho cov tshwm sim raws li ib tug tshwm sim ntawm kis tau tus ultraviolet tawg rau ntawm daim tawv nqaij ntawm tus neeg mob. Tab sis, yog hais tias ib tug noj qab nyob zoo ua hauj lwm kev enzymes uas tiv thaiv qhov tshwm sim ntawm me ntsis cov ntaub ntawv, nyob rau hauv cov neeg mob no, lawv yuav tsis active. Tag nrho cov kev txhaum - change nyob rau hauv proteins uas yog lub luag hauj lwm rau cov nqaij mos rov qab tom qab xws li ib tug kev cuam tshuam. Mutated hlwb maj noog nyob rau hauv lub cev, uas tau nyob rau hauv daim tawv nqaij cancer. Dhau li ultraviolet hluav taws xob, nws yuav tsum tau muab sau tseg, daim tawv nqaij ntawm tus neeg mob kuj heev rhiab rau moj thiab (ionizing) tawg.

Hais txog qhov kev hom ntawm cov kab mob

Kuv kuj xav kom koj nco ntsoov hais tias muaj ntau hom kev xeroderma pigmentosum. Ib tug tag nrho ntawm xya raug rho tawm, thiab lawv txawv cov tsiaj ntawv: A, B, C, D, E, F, G. Txhua ntawm cov ntaub ntawv hom muab rau ib tug kev mutant noob. Tshwj xeeb tshaj yog raws li cov kev txawv no yog tseem kawm los ntawm kws tshawb fawb. Tsis tas li ntawd faib hauv lub yim hom - pigmentosa kserodermoid Jung. Txawm li cas los, kuv yuav tsum hais tias nyob rau hauv rooj plaub no tus thawj defect thiab yog tsis paub.

symptomatology

Kuv yuav tsum hais tias nyob rau hauv cov me nyuam yug ntawm xeroderma pigmentosum daim tawv nqaij yog tsis paub hais tias. Cov me nyuam mos yug los ib txwm, muaj yog tsis muaj ntxiv ces ntawm daim tawv nqaij. Tus thawj cov tsos mob pib tshwm sim nyob ib ncig ntawm lub sij hawm ntawm 3 lub hlis - 3 xyoo, tab sis nws yog ua tau thiab ua ntej lawm los yog tom qab pib tus txheej txheem, nyob ntawm seb lub potency ntawm ultraviolet tawg. Tus thawj cov tsos mob, uas manifest lawv tus kheej nyob rau hauv cov me nyuam:

• kua muag;
• photophobia;
• tau conjunctivitis;
• tus kab mob no yuav manifest nws tus kheej photodermatitis.

Nyob rau hauv tus me nyuam lub cev muaj me ntsis zoo li moles los yog quav hnav. Maj mam, lawv muaj pes tsawg tsub kom. Qhov no yog vim pigmentation mob dab. Lwm yam tsos mob, uas ces pib tshwm:

1. Telangiectasia, piv txwv li daim tawv nqaij hlab ntsha dilate.
2. Nws kuj yuav hyperkeratosis, thaum hlwb faib heev sai sai, thiab cov txheej txheem ntawm desquamation inhibited. Thiaj li, nws tej zaum yuav tshwm sim actinic daim tawv nqaij.
3. Yog nce dryness ntawm daim tawv nqaij.

soj ntsuam daim duab

Los ntawm kev tshuaj ntsuam genetic daim tawv nqaij cov kab mob yog cov kab mob: xeroderma pigmentosum, reticular hnyav melasma, melasma Ncov hais tias, nyob rau hauv qhov tseeb, yog ib yam kab mob. Cov soj ntsuam daim duab yog muab faib mus rau hauv peb lub ntsiab hom:

1. Inflammatory. Nyob rau raug daim tawv nqaij yuav tshwm sim me ntsis zoo li quav hnav. Maj mam muaj nplai, zoo ib yam li lentigo.
2. Giperkeraticheskaya theem. Nyob rau hauv daim tawv nqaij yog qho tsim islets ntawm pawg ntawm quav hnav, plaub ya ri, lentigo hom ntsiab. Txhua yam nco daim duab ntawm mob tawg dermatitis. Tej zaum kuj muaj tej zaum yuav warty kev kawm ntawv. Tag nrho cov atrophic maj mam hloov zus deplete hryaschik qhov ntswg, pob ntseg, natural orifices tej zaum yuav deformed. Tsis tas li ntawd nyob rau ntawm no theem nws yog ua tau mas, tsis cov plaub muag. Lub cornea yuav ua pos huab, muaj yog photophobia, thiab lacrimation.
3. Thaum kawg theem ntawm lub cancer teeb meem mus txawv teb chaws. Nyob rau hauv daim tawv nqaij muaj ob benign thiab phem hlav.

neurological nta

Hais txog ib tug nyob rau hauv tsib cov neeg mob uas tus mob ntawm neurological txawv txav muaj cai. Tej zaum yuav muaj hlwb ruamqauj, areflexia (tsis muaj reflections). Nws tseem ceeb heev kom nco ntsoov hais tias tus xeroderma pigmentosum feem ntau fraught nrog xws li cov kab mob:

• Reed lub syndrome, thaum tseg cia txoj kev loj hlob ntawm lub cev pob txha, cov pob txha taub hau yog txo, muaj yog ib tug ncua lub cev thiab kev puas hlwb txoj kev loj hlob.
• Syndrome De Sanctis-Kakkone thaum irregularities nyob rau hauv lub central tshee system manifested nrog daim tawv nqaij ces.

Cov ua ntawm tus kab mob

Yuav ua li cas koj yuav tsum paub txog tej teeb meem raws li xeroderma pigmentosum? Ua, cov tsos mob ntawm tus kab mob? Yog hais tias kev tshwm sim ntawm tus kab mob tag nrho qhov tseeb, ces nws yog lub sij hawm mus nrhiav seb yog dab tsi raws nraim ua nws cov tsos. Raws li tau muaj tseeb, nws yog ib tug tshwj xeeb noob hloov, thaum lub culprit yog ib qho autosomal noob uas yog dhau los ntawm cov niam txiv. Tsis tas li ntawd nyob rau hauv tus neeg mob hlwb tsis UV-endonuclease enzyme tej zaum yuav RNA polymerase tsis muaj peev xwm. Cov soj ntsuam ntawm kuj hais tias qhov ua rau ntawm lub pathology tej zaum yuav ib qho kev nce nyob rau hauv tus tib neeg lub chaw porphyrins tshwj xeeb tej yam ntuj tso enzymes, uas adversely cuam tshuam ntawm daim tawv nqaij.

diagnostics

Qhov tseeb ntawm xeroderma pigmentosum rau hnub no yog heev siab heev. Tom qab tag nrho, ntau thiab ntau cov neeg tseem tabtom mus rau lub hnub ntau zaus, nws tsis yog ntshai ntawm raug UV rays. Thiab nws yog tsis ncaj ncees lawm. Txawm hais tias ib tug txiv neej thiab tsis hem tus kab mob no, daim tawv nqaij yog zoo tshaj plaws rau tsawg kawg las active hnub ci tawg. Yuav ua li cas yog nws ua tau rau ntes tus kab mob no?

• kev soj ntsuam ntawm daim tawv nqaij uas siv ib lub monochromator, ib tug tshwj xeeb lub cuab tam, uas txiav txim rau theem ntawm kev rhiab heev ntawm daim tawv nqaij.
• Cov kauj ruam tom ntej - ib tug me. Nyob rau hauv cov ntaub ntawv no, tus hais yog soj ntsuam hlav ntawm daim tawv nqaij ntawm tus neeg mob.
• Cov ntaub so ntswg kuaj tau noj thaum lub me histologically soj ntsuam.

kev kho mob tej teeb meem

Yog hais tias ib tug neeg mob mob "xeroderma pigmentosum" kev kho mob ntawm tus neeg mob - qhov no yog ib qho tseem ceeb heev. Piv txwv li, ib tug neeg yuav tau nruj me ntsis raws li tus kws kho mob cov lus qhia:

• Koj yuav tsum mus ntsib ib tug dermatologist.
• Nyob rau hauv thaum ntxov ua sawv nquag siv antimalarials (e.g., "delagil" los yog "Rezohin") uas txo qhov rhiab heev ntawm daim tawv nqaij mus rau lub teeb.
• Nws yog yuav tsum mus vitamin los pab txhawb lub cev. Nyob rau hauv xws li ib tug cov ntaub ntawv nws yog tsim nyog los noj nicotinic acid (vitamin PP), Retinol (vitamin A nws), raws li zoo raws li txoj vitamins ntawm pab pawg neeg B.
• Yog hais tias daim tawv nqaij kuj plaub ya ri raug tsim, lawv yuav tsum tau ua tshuaj pleev, uas yog raws li muaj corticosteroids.
• Yog hais tias muaj yog cos rau ntawm daim tawv nqaij, koj yuav tau thov cov tshuaj pleev uas muaj cytostatics, lub ntsiab hauj lwm - los mus tiv thaiv ntxiv cell division.
• Qee zaus, cov neeg mob yuav tsum haus dej haus antihistamines, nyob rau hauv lwm yam lus, antiallergic agents, piv txwv li, "Tavegil" los yog "Suprastin" los yog ncaj ncees neeg uas attenuate tsis haum.
• Nrog ib tug active nyhuv ntawm daim tawv nqaij ntawm tus neeg mob, e.g., nyob rau hauv lub caij ntuj sov, tus neeg mob yog cov tshuaj tiv thaiv UV cream los yog tshuaj txau.
• Yog hais tias muaj yog ib tug kev hem thawj rau lub tsim ntawm hlav, tus neeg mob yuav tsum tau sau npe tsis tau tsuas yog nyob rau hauv lub oncologist, tab sis kuj tsis tseg ntsuam xyuas ib tug pab pawg neeg ntawm lwm yam tshwj xeeb: ib tug dermatologist, ib tug ophthalmologist thiab ib tug neurologist.
• Neoplasms ntawm daim tawv nqaij, txawm warty, yuav tsum tau muab tshem tawm surgically.