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Colegiul National de Medicina si Farmacie “Raisa Pacalo”
Referat la biologie.
Tema: Albinismul (Boala Ereditara)
Profesor: Rotari Svetlana Elev:Ciusca Daniela Grupa 23.
Chisinau:2015
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Definitie!Albinismul este o boala ereditara nivel scazut de pigmenti, care se manifesta prin absenta partiala a pigmentului natural numit melanina, sau absenta totala a acestuia.
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Simptome!
Simptomele albinismului apar la diferite nivele ale corpului. In functie de aceasta, simptomele pot aparea:
La nivelul pielii! La nievlul parului! La nivelul ochilor!
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La nivelul pielii!
Culoarea pielii poate varia de la alb laptos pana la culoarea pielii parintilor sau fratilor.
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La nivelul ochilor!Culoarea poate varia de la albastru deschis pana la caprui.
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La nivelul parului!Culoarea parului poate varia de la alb pana la saten inchis.
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Cauze!
Cauza albinismului este reprezentata de o
tulburare a metabolismului
melaninei datorata unei mutatii genetice.
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TipuriAlbinismul oculocutanat
Albinismul ocular X-linkat
Sindromul Hermansky-Pudlak
Sindromul Chedlak-Higashi
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Albinismul oculocutanat Tipul 1Cauzat de o mutatie asupa genei cromozomului 11Pielea alb-laptoasa, parul alb si ochi albastrii la nastere
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Albinismul oculocutanat Tipul 2
Cauza: mutatie asupra genei cromozomului 15
Caracteristici: par blond/saten/roscat, ochi de culoare albastru-gri, piele alba/maro deschis.
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Albinismul oculocutanat Tipul 3
Forma mai raraCauza: mutatie a genei cromozomului
9Caracteristici: piele
rosie-bruna, ochi caprui, par roscat
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Albinismul oculocutanat Tipul 4
Forma raraCauza: mutatia cromozomului 5
Caracteristici: par blond/saten/roscat,
ochi de culoare albastru-gri, piele
alba /maro deschis.
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Albinismul ocular X-linkatCauza: mutatia cromozomului xIncidenta: apare exclusiv la barbatiCaracteristici: culoarea parului, pielii, irisului este normala; pacientul manifesta probleme de dezvoltare si tulburari de vedere
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Sindromul Hermansky-Pudlak
Forma raraCaracteristici asemanatoare cu ale albinismului oculocutanat dar apar si boli intestinale, pulmonare sau de sange
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Sindromul Chedlak-HigashiForma raraCauza: mutatia cromozomului 1Caracteristici asemanatoare cu cele ale tipului oculocutanat dar apare si o disfunctie a leucocitelor
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