Xeroderma pigmentosum

Xeroderma pigmentosum (XP) yog ib yam mob uas tsis tshua muaj dhau los ntawm tsev neeg. XP ua rau daim tawv nqaij thiab cov nqaij npog lub qhov muag yuav tsum nkag siab zoo rau ultraviolet (UV) lub teeb. Qee tus neeg kuj tseem ua rau muaj teeb meem hlab ntsha hlwb.

XP yog autosomal recessive inherited tsis meej. Qhov no txhais tau tias koj yuav tsum muaj 2 daim ntawv theej tawm ntawm cov noob tsis xwm yeem txhawm rau ua kom tus kabmob lossis tus cwj pwm tsim. Qhov mob tshwm sim tau txais los ntawm koj niam thiab leej txiv tib lub sijhawm. Cov qog ua noob tsis tshua muaj tshwm sim, yog li kev pheej hmoo ntawm ob tus niam txiv muaj lub gene muaj tsawg heev. Vim li no, nws tsis zoo li rau qee leej uas muaj tus mob kom kis nws rau lwm tiam, txawm hais tias muaj peev xwm ua tau.

UV lub teeb, xws li los ntawm lub hnub ci, ua rau cov khoom siv caj ces (DNA) hauv cov roj ntsha ua haujlwm. Nquag, lub cev rov kho qhov kev puas tsuaj no. Tab sis hauv tib neeg nrog XP, lub cev tsis kho qhov puas tsuaj. Raws li qhov tshwm sim, daim tawv nqaij tau txais nyias heev thiab thaj ua rau thaj xim sib txawv (splotchy pigmentation) tshwm sim.

Cov tsos mob feem ntau tshwm sim los ntawm lub sijhawm thaum tus menyuam muaj 2 xyoos.

Cov tsos mob ntawm daim tawv nqaij muaj xws li:

• Kev tshav ntuj uas tsis ua kom zoo tom qab kev tiv thaiv tshav ntuj me ntsis
• Tawm los ntshav tom qab siv tshuaj tiv thaiv tshav ntuj me ntsis
• Kab laug sab-zoo li cov hlab ntsha hauv qab daim tawv nqaij
• Thaj ua rau tawv nqaij tawv uas muaj qhov tsis zoo, zoo li laus dua
• Crusting ntawm daim tawv nqaij
• Scaling ntawm daim tawv nqaij
• Oozing raw cov tawv nqaij nto
• Kev tsis xis nyob thaum nyob hauv lub teeb ci ntsa iab (photophobia)
• Kab mob qog noj ntshav thaum hnub nyoog yau (nrog rau melanoma, cell cell carcinoma, squamous cell carcinoma)

Cov tsos mob ntawm lub qhov muag suav nrog:

• Qhov muag qhuav
• Clouding ntawm lub qhov muag
• Kev mob caj dab rau ntawm lub qhov muag
• O o los yog o rau ntawm daim tawv muag
• Kab mob qog ntawm qhov muag daj, mob pob ntseg lossis txha caj qaum

Cov leeg (cov hlab hlwb) cov tsos mob, uas tshwm sim hauv qee cov menyuam yaus, suav nrog:

• Kev txawj ntse
• Ncua kev loj hlob
• Ua tsis hnov ​​lus
• Nqaij ua tsis taus ntawm cov ceg thiab caj npab

Tus kws kho mob yuav kuaj xyuas lub cev, ua tib zoo saib xyuas daim tawv thiab qhov muag. Tus kws zov me nyuam tseem yuav nug txog tsev neeg muaj keeb kwm XP.

Kev ntsuam xyuas uas yuav ua tau muaj xws li:

• Siv tawv nqaij los txiav cov cell ua cov tawv nqaij tau kawm hauv chav kuaj
• Kev kuaj DNA rau cov noob teeb meem

Cov ntawv sim hauv qab no tuaj yeem pab ntsuas qhov mob hauv menyuam yaus ua ntej yug:

• Amniocentesis
• Chorionic villous piv txwv
• Kab lis kev cai ntawm amniotic hlwb

Cov neeg nrog XP xav tau kev tiv thaiv tag nrho los ntawm tshav ntuj. Txawm tias lub teeb nkag dhau ntawm lub qhov rais lossis ntawm lub qhov muag taws me me tuaj yeem ua rau muaj kev phom sij.

Thaum tawm mus sab hnub, yuav tsum hnav cov khaub ncaws tiv thaiv.

Txhawm rau tiv thaiv cov tawv nqaij thiab lub qhov muag los ntawm lub hnub ci:

• Siv tshuaj pleev thaiv hnub nrog SPF siab tshaj plaws koj tuaj yeem nrhiav.
• Hnav tsho ntev thiab cov ris ntev.
• Hnav cov looj tsom iav uas thaiv UVA thiab UVB. Qhia koj tus menyuam hnav looj tsom iav thaum mus nraum zoov.

Txhawm rau tiv thaiv kom txhob mob qog tawv nqaij, tus kws kho mob yuav muab tshuaj, xws li tshuaj pleev ib ce, kom siv rau daim tawv nqaij.

Yog tias daim tawv nqaij hlav tuaj, kev phais mob lossis lwm txoj hauv kev yuav ua kom tshem tus mob qog.

Cov peev txheej no tuaj yeem pab koj paub ntau txog XP:

• NIH Genetics Hauv Tsev Hais Txog - ghr.nlm.nih.gov/condition/xeroderma-pigmentosum
• Xeroderma Pigmentosum Society - www.xps.org
• XP Pab Txhawb Tsev Neeg - xpfamilysupport.org

Ntau tshaj li ib nrab ntawm cov neeg uas muaj tus mob no tuag ua cancer ntawm daim tawv nqaij thaum tseem hluas.

Hu teem sijhawm nrog tus kws khomob yog koj lossis koj tus menyuam muaj mob XP.

Cov kws tshaj lij pom zoo kev ntuas caj rau cov neeg muaj keeb kwm tsev neeg XP uas xav muaj menyuam.

• Chromosomes thiab DNA

Bender NR, Chiu YE. Kev Lom Zem. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 675.

Patterson JW. Kev tsis sib haum ntawm cov mob epidermal maturation thiab keratinization. Hauv: Patterson JW, ed. Weedon's Cov Khoom Siv Tawv TawvCov. 4 tug ed. Philadelphia, PA: Elsevier Churchill Livingstone; 2016: chap 9.