Ukugqiba okanye Ukungabi Nxalenye yePigment
Iingxaki ze-hypopigmentary congenital, ezibizwa ngokuba yi-albinism, zibangelwa yimpembelelo kwimveliso ye-pigment (melanin) elukhumbeni, amehlo kunye neenwele. Oku kungenxa yokungafezeki kweeseli ezivelisa i-melanin (i-melanocytes).
Iindidi ze-albin ezenzeka rhoqo zi-oculocutaneous albinism (OCA) iintlobo 1, 2, no-3, kunye ne-ocular albinism. Ezinye iziphazamiso ezine-albinism njengempawu ziyi-Chediak-Higashi syndrome, i-Hermansky-Pudlak syndrome kunye ne- Waardenburg syndrome .
I-Albin ichaphazela bonke abesilisa nabesifazane kwaye kubonakala ngokuzalwa. Uphando lubonisa ukuba u-OCA uhlobo 1 luvela kumntu ngamnye kwi-40,000 yabemi, u-OCA uhlobo lwesi-2 luvela kumntu ngamnye kwi-15,000, kunye ne-albinism ye-ocular kwi-1 ngabanye ngabantu abangama-50,000. Uphando alukafumani ukuba kaninzi kangakanani u-OCA uhlobo lwesi-3 olwenzekayo, nangona luye lwaqinisekiswa ngokwemizimba yabantu baseAfrika nabaseMerika.
Ifa le-Albinism
Uhlobo lwe-OCA lu-1 lubangelwa yi- gene kwi-chromosome 11 kwaye lifa njengeli-autosomal traction, oku kuthetha ukuba umntu kufuneka azuze iimbalo ezimbini zokukhubazeka ze-disorder ukuba zenzeke. Uhlobo lwe-OCA lu-2 lubangelwa ngumzimba kwi-chromosome 15 kwaye lifa njengeli-autosomal traction trait. Uhlobo lwe-OCA lu-3 lubangelwa ngumgubo we-chromosome 9 kwaye uzuze ngefa lokuziphatha ngendlela engagqibekanga. I-albinism ye-Ocular ibangelwa ngumzimba kwi-X (insikazi) i-chromosome. Kwakhona ingxaki yokuguqulwa kwengqondo , nto leyo ithetha ukuba indoda izuze enye i-chromosome i-X i-albinism, kodwa iqela liza kufuneka lidle i-chromosomes i-X ephosakeleyo ukuba ibe ne-disorder.
Iimpawu zeAlubin
Zonke iintlobo ze-albin zinokungabikho kwe-pigment, kodwa imali iyahluka kwiindidi eziya kufaka.
- Uhlobo lwe-OCA luhlala lubangele ukungabikho kwe-pigment ekhumbeni, iinwele kunye namehlo, kodwa abanye abantu banokuba neqondo elithile lokuguquka. Uhlobo lwe-OCA lu-1 lubangela ukuba nobuzwe bokukhanya (photophobia), ukunciphisa ubuninzi obubonakalayo, kunye nesiso sokungabonakaliyo kweso (nystagmus).
- Uhlobo lwe-OCA lu-2 lubangela ubuncinane ukuya kwizinga elichanekileyo lokuchithwa kwesikhumba kwesikhumba, iinwele kunye namehlo. Kwakhona kubangela iingxaki zamehlo ezifana nohlobo lwe-OCA 1.
- Uhlobo lwe-OCA lube lukhuni ukuchonga ngokusekelwe kwindlela yokubonakala yedwa. Kuye kwabonakala kakhulu xa umntwana okhukhulayo kakhulu ezalwe kubazali abaluhlaza. Uhlobo lwe-OCA lu-3 lubangela iingxaki zamehlo , kodwa alukho ezinzima njengezo ze-OCA uhlobo 1.
- I-albinism ye-Ocular ichaphazela kuphela amehlo, okubangela ukuba i-pigmentation encinci kubo. Iris iyakubonakala ihamba. Ukunciphisa ubunqunu bokubonakala, i-nystagmus, kunye nobunzima bokulawula ukunyuka kweeyeso kwenzeka.
Ukuchonga i-Albinism
U-Albin ukhona ekuzalweni, kwaye ngokuqhelekileyo ufunyaniswa ngokusekelwe kwintsapho yabantwana. Ukuba kuyimfuneko, ukuhlolwa kofuzo kungenziwa ukuze kuqinisekiswe ukuxilongwa, kodwa oku akukwenziwa rhoqo.
Ukuphatha i-Albin
Akukho nonyango okanye unyango lwe-albinism. Ekubeni abantu abane-albinism bananto encinci okanye bengenalo i-melanin elukhumbeni lwabo, kufuneka basebenzise i-sunscreen ebanzi kwaye banxibe iimpahla ezifanelekileyo xa bengaphandle ukukhusela umonakalo owenziwe ngomoya. Ukusetyenziswa kwezibuko zelanga kuza kunciphisa iimpawu zokubonakalisa ukukhanya kokukhanya kunye nokukhusela amehlo. I-ophthalmologist ingaphatha ezinye iimpawu zamehlo okanye umbono.
Abantu abane-albinism kufuneka babone i-dermatologist rhoqo ukuba ihlolwe ngumhlaza wesikhumba. I-Albin ayitshintshi ixesha lokuphila okanye ibe neminye imiphumo yempilo.
> Umthombo:
Boissy, RE (2003). Albinism. iMedicine, ifumaneka kwi http: // www. emedicine.com/derm/topic12.htm