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2Manifestari Gastrointestinale in FC La Copil

2Manifestari Gastrointestinale in FC La Copil

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Published by Dr Diana Enachescu

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Published by: Dr Diana Enachescu on Jan 17, 2009
Copyright:Attribution Non-commercial

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02/22/2014

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MANIFESTMANIFESTĂĂRI CLINICERI CLINICE GASTROINTESGASTROINTESTTINALE ŞIINALE ŞIMĂSURI TERAPEUTICE ÎNMĂSURI TERAPEUTICE ÎNFIBROZA CHISTICĂ LA COPILFIBROZA CHISTICĂ LA COPIL
 
An V 2008
 
 
Fibroza chistică(FC)cea mai frecventă boală AR 1 caz la 2000 nou născuţi –rasa albăEvolutie si prognosticseverePotential letala53 ani (SUA)
supravieţuire medie
Interesarea digestivă
(insuficienta pancreaticaexocrina)
MALNUTRITIESEVERASupravietuire ↓28 ani (SUA)
 
 
Relaţia fenotip – genotipRelaţia fenotip – genotip
Insuficienţa pancreatică exocrina (IPE)
peste 1000mutatii
IntotdeaunaIntotdeaunaprezentaprezentaΔΔF508F508MinimaMinimaR117H şi A455ER117H şi A455E
AbsentaAbsentacombinatiacombinatiaR117HR117H++A455EA455E++ΔΔF508F508

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