Neeg Albinism

Albinism yog lub luag haujlwm ntawm melanin ntau lawm. Melanin yog lub hauv nruab nrog cev uas muab cov xim rau koj cov plaub hau, tawv nqaij, thiab pleev xim rau lub qhov muag.

Albinism tshwm sim thaum ib qho ntawm ntau qhov kev tawm caj ces ua rau lub cev tsis tuaj yeem tsim lossis faib cov melanin.

Cov kev tsis xws no yuav dhau mus (tau los ntawm niam txiv) los ntawm cov tsev neeg.

Daim ntawv foos hnyav tshaj plaws ntawm albinism yog hu ua oculocutaneous albinism. Cov neeg muaj hom albinism muaj plaub hau dawb lossis liab dawb, tawv nqaij, thiab xim iris. Lawv kuj muaj teeb meem tsis pom kev zoo.

Lwm hom albinism, hu ua ocular albinism yam 1 (OA1), cuam tshuam tsuas yog lub qhov muag. Tus neeg lub cev tawv nqaij thiab qhov muag xim yog feem ntau nyob rau hauv ib txwm muaj. Txawm li cas los xij, kev kuaj qhov muag yuav qhia tias tsis muaj xim nyob tom qab ntawm lub qhov muag (retina).

Hermansky-Pudlak syndrome (HPS) yog ib qho qauv ntawm albinism los ntawm kev hloov pauv mus rau ib lub noob qub. Nws tuaj yeem tshwm sim kev tsis los ntshav, nrog rau mob ntsws, raum, thiab mob hnyuv.

Tus neeg mob albinism yuav muaj ib ntawm cov tsos mob no:

• Tsis muaj xim nyob rau hauv cov plaub hau, tawv nqaij, los yog nws qhov muag ntawm lub qhov muag
• Sib dua dua cov tawv nqaij thiab plaub hau
• Thaj ua rau plhu ntawm daim tawv nqaij ploj

Ntau hom albinism yog txuam nrog cov tsos mob hauv qab no:

• Hla ob lub qhov muag
• Lub teeb rhiab
• Lub qhov muag ceev ceev
• Cov teeb meem tsis pom kev, lossis kev ua haujlwm dig muag

Kev kuaj raws keeb kwm muaj qhov tseeb tshaj plaws rau kev kuaj mob albinism. Cov kev sim no muaj txiaj ntsig yog tias koj muaj keeb kwm keeb kwm albinism tsev neeg. Nws kuj muaj txiaj ntsig zoo rau qee pawg pawg ntawm cov tib neeg uas paub muaj tus kab mob.

Koj tus kws saib xyuas kev noj qab haus huv tseem tuaj yeem kuaj xyuas tus mob raws cov tsos ntawm koj cov tawv nqaij, plaub hau, thiab qhov muag. Tus kws kho qhov muag hu ua ophthalmologist tuaj yeem ua electroretinogram. Nov yog kev sim tawm uas tuaj yeem qhia cov teeb meem pom kev cuam tshuam nrog albinism. Ib qho kev xeem hu ua kev kuaj pom lub peev xwm pom tau tuaj yeem yog qhov muaj txiaj ntsig zoo thaum kev kuaj pom tsis paub meej.

Lub hom phiaj ntawm txoj kev kho mob yog los daws cov tsos mob.Nws yuav yog nyob ntawm seb qhov kev puas tsuaj loj npaum li cas.

Txoj kev kho yog cuam tshuam rau kev tiv thaiv daim tawv nqaij thiab qhov muag los ntawm lub hnub. Ua li no:

• Txo qhov kev pheej hmoo ntawm tshav ntuj los ntawm kev zam lub hnub, siv tshuaj pleev thaiv hnub, thiab npog kom meej nrog cov ris tsho thaum tiv tshav ntuj.
• Siv tshuaj pleev thaiv hnub nrog lub hnub tiv thaiv qhov siab ntau (SPF).
• Hnav looj tsom iav (UV tiv thaiv) los pab daws lub teeb ci.

Cov tsom iav feem ntau kho tau kho qhov teeb meem tsis pom kev thiab qhov muag pom. Kev phais qhov muag ntawm lub qhov muag qee zaum pom zoo kom kho qhov muag qoj ib ce.

Cov pab pawg hauv qab no tuaj yeem muab cov ntaub ntawv thiab cov peev txheej ntxiv:

• Lub Koom Haum Hauv Tebchaws rau Albinism thiab Hypopigmentation - www.albinism.org
• NIH / NLM Genetics Hauv Tsev Ntawv - ghr.nlm.nih.gov/condition/ocular-albinism

Albinism feem ntau tsis cuam tshuam txog kev ua neej. Txawm li cas los xij, HPS tuaj yeem txo ib tus neeg lub neej vim kev mob ntsws los ntshav.

Cov tib neeg muaj kab mob albinism yuav raug txwv nyob hauv lawv cov kev ua ub no vim tias lawv tsis tuaj yeem tiv tshav ntuj.

Cov teeb meem no tuaj yeem tshwm sim:

• Tsis tshua pom kev, dig muag
• Daim tawv nqaij mob cancer

Hu rau koj tus kws kho mob yog tias koj muaj albinism lossis cov tsos mob xws li lub teeb rhiab ua rau tsis xis nyob. Tsis tas li ntawd hu yog tias koj pom muaj kev txawv txav ntawm daim tawv nqaij uas tej zaum yuav yog thaum ntxov pom ntawm mob qog nqaij hlav.

Vim tias albinism raug pub los ntawm caj ces, kev qhuab qhia txog caj ces yog qhov tseem ceeb. Cov tib neeg muaj keeb kwm albinism lossis teeb meem xim yuav tsum xav txog kev sib tham caj ces.

Oculocutaneous albinism; Ocular albinism

• Melanin

Cheng KP. Ophthalmology. Hauv: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli thiab Davis 'Atlas Kev Kuaj Mob Rau Menyuam yausCov. 7 tus ed. Philadelphia, PA: Elsevier; 2018: chap 20.

Joyce JC. Qhov chaw mob muaj keeb. 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: cha 672.

Paller AS, Mancini AJ. Kev cuam tshuam ntawm pigmentation. Hauv: Paller AS, Mancini AJ, eds. Hurwitz Tshuaj Pab Rau Cov Neeg Mob Lub CevCov. Thib 5 ed. Philadelphia, PA: Elsevier; 2016: chap 11.