Cystic fibrosis screening: Difference between revisions
| Line 9: | Line 9: | ||
In almost all of the Western countries, newborn screening for cystic fibrosis (CF NBS) has been introduced that identified most of the children with cystic fibrosis before the symptoms develop. It offers this opportunity for early diagnosis and improved outcomes in patients with cystic fibrosis.<ref name="pmid26366807">{{cite journal |vauthors=Gonska T, Ratjen F |title=Newborn screening for cystic fibrosis |journal=Expert Rev Respir Med |volume=9 |issue=5 |pages=619–31 |date=October 2015 |pmid=26366807 |doi=10.1586/17476348.2015.1085804 |url=}}</ref><ref name="pmid20521170">{{cite journal |vauthors=Hale JE, Parad RB, Dorkin HL, Gerstle R, Lapey A, O'Sullivan BP, Spencer T, Yee W, Comeau AM |title=Cystic fibrosis newborn screening: using experience to optimize the screening algorithm |journal=J. Inherit. Metab. Dis. |volume=33 |issue=Suppl 2 |pages=S255–61 |date=October 2010 |pmid=20521170 |doi=10.1007/s10545-010-9117-3 |url=}}</ref> | In almost all of the Western countries, newborn screening for cystic fibrosis (CF NBS) has been introduced that identified most of the children with cystic fibrosis before the symptoms develop. It offers this opportunity for early diagnosis and improved outcomes in patients with cystic fibrosis.<ref name="pmid26366807">{{cite journal |vauthors=Gonska T, Ratjen F |title=Newborn screening for cystic fibrosis |journal=Expert Rev Respir Med |volume=9 |issue=5 |pages=619–31 |date=October 2015 |pmid=26366807 |doi=10.1586/17476348.2015.1085804 |url=}}</ref><ref name="pmid20521170">{{cite journal |vauthors=Hale JE, Parad RB, Dorkin HL, Gerstle R, Lapey A, O'Sullivan BP, Spencer T, Yee W, Comeau AM |title=Cystic fibrosis newborn screening: using experience to optimize the screening algorithm |journal=J. Inherit. Metab. Dis. |volume=33 |issue=Suppl 2 |pages=S255–61 |date=October 2010 |pmid=20521170 |doi=10.1007/s10545-010-9117-3 |url=}}</ref> | ||
Immunoreactive trypsinogen (IRT) of serum is raised in newborns with cystic fibrosis and has been used as a screening test. A raised IRT in the first week of life (b-IRT) is a sensitive test but not specific for cystic fibrosis. A second IRT test within 6 weeks of life is used in some screening protocols to avoid excessive numbers of sweat chloride test. | Immunoreactive trypsinogen (IRT) of serum is raised in newborns with cystic fibrosis and has been used as a screening test. A raised IRT in the first week of life (b-IRT) is a sensitive test but not specific for cystic fibrosis. A second IRT test within 6 weeks of life is used in some screening protocols to avoid excessive numbers of sweat chloride test.<ref name="pmid23430892">{{cite journal |vauthors=Paracchini V, Seia M, Raimondi S, Costantino L, Capasso P, Porcaro L, Colombo C, Coviello DA, Mariani T, Manzoni E, Sangiovanni M, Corbetta C |title=Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates |journal=JIMD Rep |volume=4 |issue= |pages=17–23 |date= 2012 |pmid=23430892 |pmc=3509858 |doi=10.1007/8904_2011_55 |url=}}</ref> | ||
==References== | ==References== | ||
Revision as of 19:55, 23 February 2018
|
Cystic fibrosis Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Cystic fibrosis screening On the Web |
|
American Roentgen Ray Society Images of Cystic fibrosis screening |
|
Risk calculators and risk factors for Cystic fibrosis screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
Overview
Newborn screening identified most of the children with cystic fibrosis before the symptoms develop. It offers this opportunity for early diagnosis and improved outcomes.
Screening
In almost all of the Western countries, newborn screening for cystic fibrosis (CF NBS) has been introduced that identified most of the children with cystic fibrosis before the symptoms develop. It offers this opportunity for early diagnosis and improved outcomes in patients with cystic fibrosis.[1][2]
Immunoreactive trypsinogen (IRT) of serum is raised in newborns with cystic fibrosis and has been used as a screening test. A raised IRT in the first week of life (b-IRT) is a sensitive test but not specific for cystic fibrosis. A second IRT test within 6 weeks of life is used in some screening protocols to avoid excessive numbers of sweat chloride test.[3]
References
- ↑ Gonska T, Ratjen F (October 2015). "Newborn screening for cystic fibrosis". Expert Rev Respir Med. 9 (5): 619–31. doi:10.1586/17476348.2015.1085804. PMID 26366807.
- ↑ Hale JE, Parad RB, Dorkin HL, Gerstle R, Lapey A, O'Sullivan BP, Spencer T, Yee W, Comeau AM (October 2010). "Cystic fibrosis newborn screening: using experience to optimize the screening algorithm". J. Inherit. Metab. Dis. 33 (Suppl 2): S255–61. doi:10.1007/s10545-010-9117-3. PMID 20521170.
- ↑ Paracchini V, Seia M, Raimondi S, Costantino L, Capasso P, Porcaro L, Colombo C, Coviello DA, Mariani T, Manzoni E, Sangiovanni M, Corbetta C (2012). "Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates". JIMD Rep. 4: 17–23. doi:10.1007/8904_2011_55. PMC 3509858. PMID 23430892.