Albinism nyob rau hauv tib neeg

Txhua yam uas muab rau peb tus kheej, qhov muag xim, plaub hau thiab tawv nqaij, tshwm sim vim muaj cov kab mob hauv melanin. Nws tsis tuaj yeem yog ib hom kab mob ntawm cov kab mob hauv lub cev. Albinism nyob rau hauv tib neeg tsis heev, nws tau txais los ntawm cov niam txiv, tshwj xeeb tshaj yog tias lawv yog ob qho tib si ntawm ib tus poj niam mutated recessive.

Hom thiab ua rau mob ntshav dawb

Synthesis of melanin yog vim muaj qhov tshwj xeeb enzyme - tyrosinase. Lub blockade ntawm nws txoj kev loj hlob tuaj yeem ua rau tsis muaj pigment lossis nws cov deficiency, uas provokes albinism.

Txoj kev ntawm qub txeeg qub teg ntawm tus kab mob no yog muab faib ua autosomal dominant thiab autosomal recessive hom. Nyob ntawm seb yog hom dab tsi, qhov pathology yog cais li nram qab no:

  1. Ib nrab albinism . Ua kom pom tus kab mob no tshwm sim, nws muaj txaus kom muaj ib tus niam txiv nrog ib tus noob qeeb.
  2. Tag nrho cov leeg mob . Tshwm sim hauv rooj plaub thaum leej txiv thiab leej niam muaj tus poj niam mutated hauv DNA.
  3. Tsis tag kis albinism . Nws tau txais los ntawm txoj kev ncaj ncees nrog rau kev sib txuas lus nrog rau autosomally.

Raws li kev soj ntsuam tau tshwm sim, muaj ib qho kev ua tsis zoo thiab ib qho ocular hom pathology. Cia peb xav txog ntau yam

Qhov muag albinism

Hom kab mob no yog outwardly yuav luag pom. Nws yog cov tsos mob li nram qab no:

Cov tawv nqaij thiab cov plaub hau tseem nyob los yog me ntsis ntais dua cov neeg txheeb ze.

Nws yog tsim nyog sau cia tias tsuas yog txiv neej muaj kev cuam tshuam los ntawm qhov muag albinism, whereas cov poj niam yog tsuas muaj nws.

Oculomotor albinism los yog HCA

Nws muaj peb hom kev xav ntawm tus mob albinism:

  1. HCA 1. Daim ntawv no yog xam nrog rau subgroup A (melanin tsis tau ua txhua) thiab B (melanin yog ua rau cov tsis txaus). Nyob rau hauv rooj plaub thawj, plaub hau thiab tawv nqaij tsis yog pigmented (dawb), kev tiv tauj nrog tshav ntuj ua rau kub hnyiab, tus iris yog pob tshab, xim ntawm ob lub qhov muag tshwm liab vim cov hlab ntsha txhais. Qhov thib ob hom yog nrog ib tug qaug zog pigmentation ntawm daim tawv nqaij, uas nce nrog lub hnub nyoog, nrog rau kev siv ntawm cov plaub hau xim, iris;
  2. HCA 2. Tus cwj pwm tshwj xeeb yog xim tawv dawb tsis tseemceeb ntawm tus neeg mob. Lwm cov tsos mob kuj sib txawv - xim daj los sis daj liab, daj muag lossis xiav xiav, qhov zoo li ntawm cov quav hnyav hauv qhov chaw ntawm daim tawv nqaij nrog hnub ci;
  3. HCA 3. Qhov tsawg tshaj plaws ntawm hom mob albinism nrog cov kev mob tshwm sim (inconspicuous manifestations). Cov tawv nqaij, raws li txoj cai, muaj hoov daj los yog xeb xiav, zoo li cov plaub hau. Ob lub qhov muag - pluav-xim av, thiab qhov muag pom tseeb nyob tsis zoo.