SIGNIFICANCE OF NEONATAL SCREENING FOR CYSTIC FIBROSIS

SA@ETAK. Cisti~na fibroza (CF) je autosomno recesivno nasljedna bolest i smatra se naj~e{}om smrtonosnom bole{}u u bijele rase. Dijagnosti~ki pristup bolesti temelji se na dijagnosti~kom konsenzusu po kojem se sumnja na CF mo`e postaviti me|u ostalim i na osnovi pozitivnog nalaza novoro|ena~kog probira. Dok je u svijetu zadnjih godina sve vi{e djece koja se otkrivaju u programu novoro|ena~kog probira, u Hrvatskoj se on ne provodi. Bolesnici u kojih se dijagnoza postavi nakon novoro|ena~kog probira imaju neke prednosti, rizike ali i nove probleme, te izazove za medicinsku struku s kojima se nismo susretali u dosada{njoj praksi. Prednost probira najvi{e se o~ituje u boljoj uhranjenosti i boljem potencijalu kognitivnih funkcija te u izbjegavanju komplikacija koje su posljedica malnutricije. Prednost glede o~uvanja plu}ne funkcije sadr`i vi{e kontroverza. Rano prepoznavanje bolesti ~esto dovodi do ranog izlaganja bolesnika riziku infekcija Pseudomonasom zbog odlaska u ustanove u kojima susre}e druge bolesnike s CF. Poznavanje prednosti i rizika novoro|ena~kog probira na CF omogu}uje procjenu njegove va`nosti ne samo za bolesnika ili njegovu obitelji ve} i za ~itavu zajednicu.

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  2008cited by this paper
• Developmental Paradigm for Early Features of Cystic Fibrosis

  2005cited by this paper
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  2004cited by this paper
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  2004cited by this paper
• An Analysis of Communication Following Newborn Screening for Cystic Fibrosis

  2004cited by this paper
• Infection Control in Cystic Fibrosis

  2004cited by this paper
• [National program for neonatal screening for cystic fibrosis: implementation and preliminary results].

  2003cited by this paper
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  2003cited by this paper
• Screening for cystic fibrosis: the practice and the debate

  2003cited by this paper
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  2003cited by this paper
• Newborn screening methods for cystic fibrosis.

  2003cited by this paper
• Risk factors for initial acquisition of Pseudomonas aeruginosa in children with cystic fibrosis identified by newborn screening

  2003cited by this paper
• Newborn screening programmes for cystic fibrosis.

  2003cited by this paper
• Analysis of the costs of diagnosing cystic fibrosis with a newborn screening program.

  2003cited by this paper
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  2003cited by this paper
• Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis.

  2003cited by this paper
• Cystic fibrosis newborn screening and detection of carriers

  2003cited by this paper
• The impact of early cystic fibrosis diagnosis on pulmonary function in children.

  2002cited by this paper
• Laboratory tests for the diagnosis of cystic fibrosis.

  2002cited by this paper
• Newborn screening: the role of the obstetrician.

  2002cited by this paper
• Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group.

  2001cited by this paper
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  2001cited by this paper
• The incidence of cystic fibrosis (CF) mutations among patients from Croatia

  2000cited by this paper
• The genesis of cystic fibrosis lung disease.

  1999cited by this paper
• Neonatal screening for cystic fibrosis. Early diagnosis allows option of prenatal diagnosis in subsequent pregnancies.

  1998cited by this paper
• Cystic fibrosis and reproduction.

  1998cited by this paper
• Neonatal screening for cystic fibrosis. Early diagnosis is important to parents even if it makes little difference to outcome.

  1998cited by this paper
• The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel.

  1998cited by this paper
• Acquisition of Pseudomonas aeruginosa in children with cystic fibrosis.

  1997cited by this paper
• Screening for cystic fibrosis--time to change our position?

  1997cited by this paper
• How Much Vitamin E Is Enough

  1996cited by this paper
• Cystic fibrosis.

  1996cited by this paper
• Neonatal screening for cystic fibrosis.

  1995cited by this paper
• Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis.

  1993cited by this paper
• Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR).

  1992cited by this paper
• The spectrum of cystic fibrosis mutations.

  1992cited by this paper
• NEONATAL SCREENING FOR CYSTIC FIBROSIS

  1986cited by this paper
• Assessing the effectiveness of community screening programs.

  1984cited by this paper
• Dried-blood spot screening for cystic fibrosis in the newborn.

  1979cited by this paper
• CYSTIC FIBROSIS OF THE PANCREAS AND ITS RELATION TO CELIAC DISEASE: A CLINICAL AND PATHOLOGIC STUDY

  1938cited by this paper

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