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1412417
Enfermedad de Gaucher
Description
Mind Map on Enfermedad de Gaucher, created by Edwin13 on 10/05/2014.
Mind Map by
Edwin13
, updated more than 1 year ago
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Created by
Edwin13
over 10 years ago
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Resource summary
Enfermedad de Gaucher
Autosomica recesiva
Definicion: Deficit de glucocerebrosidasa(degradacion lisosomica de glucolipidos
Celulas de Gaucher
Aspecto mesenquimatoso, nucleo no desplazado, y citoplasma de aspecto de "celofan arrugado"
En medula, bazo, higado y ganglios
Frecuencia de 1 / 60,000
Tipos (severidad)
Neuropatica
1/40,000, mas comun, sin afeccion de SNC, hepatoesplenomegalia, trombocitopenia
Neuropatica aguda
1/100,000, Convulsiones y retraso mental, Trombocitopenia y crisis oseas
Neuropatica cronica
1/100,000 Calcificacion de valvulas cardiacas, esplenomegalia leve, e hidropesia fetal inmune
Dx Demostracion de deficiencia por mediciones enzimaticas
Tx: Terapia de remplazo sistematico, y de reduccion de sustrato
Media attachments
Gaucher_1 (image/jpg)
Gaucher_2 (image/jpg)
Gaucher_3 (image/jpg)
Gaucher_4 (image/jpg)
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