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Flashcards > Pediatrie Endocrinologie > Flashcards

Pediatrie Endocrinologie Flashcards

1
Q

CARE ESTE PRIMUL SEMN DE HIPOTIROIDISM CONGENITAL

A

ICTERUL PRELUNGIT

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2
Q

CAUZA N 1 IN TARILE SUBDEZVOLTATE DE HIPOTIROIDISM CONGENITAL

A

DEFICIENTA SEVERA DE IOD

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3
Q

CAUZA N 1 IN TARILE DEZVOLTATE DE HIP CONG

A

AGENEZIA DE TIROIDA

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4
Q

ALTE CAUZE DE HIPOTIROIDISM CONGENITAL

A

PATOLOGII EREDITARE ALE SINTEZEI HORMONILOR TIROIDIENI

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5
Q

In lipsa tratamentului…

A

Duce la Cretinism ( dezvoltarea mentala anormala si creșteriirea cresterii

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6
Q

Daca mama are functie tiroidiana normala

A

Frecvent asimtomatic

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7
Q

Simptome/semne in Hipotiroidismul congenital

A

Alimentatie deficitara
Letargie
Fontanela mare ramane deschisa
Macroglosia
Constipatie
Hernie ombilicala
Deficit de crestere
Hipotonie
Piele uscata
Hipotermie
Icter

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8
Q

Laborator

A

T4 scazut
TSH crescut

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9
Q

Imagistica

A

Rx- dezvoltare osoasa deficitara
Scanarea tiroidei:
- scaderea captarii = malformatie
- cresterea captarii = deficit de iod

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10
Q

Tratament

A

Levotiroxina - imediat dupa nastere

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11
Q

Deficienta de glucozo- 6 Fosfataza

A

multiple patologii de stocare a glicogenului

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12
Q

Simptome/semne
Deficienta de glucozo- 6 Fosfataza

A

Apare de la 3 la 4 luni
hepatomegalie
Convulsii
Fata cu aspect de papusa
Extremitati subtiri

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12
Q

Glicogeneza tip 1

A

Boala von Gierke
acumularea glicogenului in diferite organe

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13
Q

Laborator
Deficienta de glucozo- 6 Fosfataza

A

Hipoglicemie
Acid Lactic crescut
Lipide crescute
Acid uric crescut

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14
Q

Tratament
Deficienta de glucozo- 6 Fosfataza

A

modificari dietetice
Aport restrictionat de fructoza si galactoza
Mentinerea niv glicemice normale

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15
Q

G6F vs G6PD

A

G6PD glucozo 6 fosfat dehidrogenaza
predispune la distructia hematiilor
Declansata de infectie, medicatie si stress

16
Q

Glicogen tip II - Boala Pompe

A

alfa glicozidaza lizozomala
Cardiomegalie
Hipotonie
Insuf respiratorie
Trat: Aglucozidaza alfa

17
Q

Glicogen Tip III- Boala Cori

A

Deficit enzima deramificare a glicogenului
Afecteaza ficatul si muschii
Hipoglicemie medie
Trat: dieta hiperproteica, glucoza,transpalnt hepatic

18
Q

Glicogen Tip IV- Boala Anderson

A

Deficit enzima de ramificare a glicogenului
GBE-1
Intarziere de crestere in copilarie
hepatomegalie
Muschi si inima in formele de tardiva
Transplant hepatic

19
Q

Glicogen Tip V- Boala McArdle

A

Deficit de fosforilaza a glicogenului muscular
Afectarea m scheletrici
Crampe mialgii fatigabilitate
Suplimente cu sucroza

Flashcards (6 decks)

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