Pediatrie endocrine Flashcards
Hipotir-clinica
Asimptomatic daca mama are functie tir normala Macroglosie, constipatie Fontanela mare deschisa Icter-primul semn de htir Alimentatie deficitara=>letargie=> retard de crestere Hipotermic, tegumente uscate Hernie ombilicala Hipotonie
Cum se numesc bolile de stocare glicogen?
von gierke pompe cori anderson McArdle
Von gierke-clinica
Convulsii
fata de papusa
membre subtiri
hepatomegalie
Laborator-von gierke
HIPOglicemie
Acid uric, lactic crescut
lipide crescute
Boala pompe-deficit si tratament
deficit de alfa glucozidaza lizozomala
substituie enzimatica cu algclucosidaza
Clinica boala pompe
Cardiomegalie
Hipotonie
Insuficienta respiratorie
Boala Cori deficit plus tratament
ezima de ramificare
dieta hiperproteica, glucoza
transplant hepatic
Boala cori-clinica
Hipoglicemie+afectare hepatica
afectare musculara
Boala Anderson deficit plus tratament
deficit de enzima ed ramificare-gena GBE1
transplant hepatic
Boala anderson-clinica
Intarziere in crestere
hepatomegalie
afectare cardiaca+musculara in formele tardive
Mcardle-deficit, tratament
def de fosforilaza glicogen muscular SUCROZA
Mcardle Clinica
Ard muschii=> crampe, mialgii, fatigabilitate
