Positive neonatal screening for cystic fibrosis in neonates with renal failure.
نویسندگان
چکیده
Screening for cystic fibrosis (CF) was recently added to the neonatal screening programme in the Netherlands. Four patients with renal failure whose heel prick tests were positive for CF as defined by raised levels of immunoreactive trypsinogen (IRT) and pancreatitis-associated protein (PAP) are described. Both cystic fibrosis transmembrane conductance regulator (CFTR) DNA analysis and sweat tests were negative. Limited renal function can be a cause of false positive neonatal screening for CF using IRT and PAP.
منابع مشابه
Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis.
AIM To determine whether pancreatitis associated protein (PAP) is a marker for cystic fibrosis which could be used in neonatal screening for the disease. METHODS PAP was assayed on screening cards from 202,807 neonates. Babies with PAP > or = 15 ng/ml, or > or = 11.5 ng/ml and immunoreactive trypsinogen (IRT) > or = 700 ng/ml were recalled for clinical examination, sweat testing, and cystic f...
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OBJECTIVE To assess the effectiveness of a two tier neonatal screening strategy for cystic fibrosis, which combines estimation of immunoreactive trypsinogen followed by direct gene analysis in dried blood spot samples collected at age 5 days. DESIGN Prospective study of two tier screening strategy. The first tier of testing immunoreactive trypsinogen concentration was measured in dried blood ...
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OBJECTIVES The purpose of this work was to assess the costs of 4 neonatal screening strategies for cystic fibrosis in relation to health effects. In each strategy, the first test was the measurement of serum concentration of immunoreactive trypsin. The second step consisted of either a second immunoreactive trypsin test (strategy 1) or a multiple mutation analysis (strategy 2). In strategies 3 ...
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Objective(s): More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients. Material and...
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ورودعنوان ژورنال:
- Thorax
دوره 65 7 شماره
صفحات -
تاریخ انتشار 2010