| 个人简介 | |
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 Dr. Silvia Gartner Hospital Universitari Vall d´Hebron, Spain |
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| 标题： Cystic fibrosis diagnosed by newborn screening: follow-up protocol | |
| 摘要： Neonatal screening for CF offers a unique opportunity for early diagnosis that has been proven to improve nutritional status, lung function and survival and to reduce hospital admissions, all of which may reduce health care costs. It is widely implemented worldwide. The specificity of elevation of IRT in a single sample is low, so protocols have been developed that use a DNA test in the first neonatal sample (IRT + DNA), or PAP (IRT+PAP+DNA)or that request a second sample for repeat measurement of IRT (IRT + IRT + DNA), or a sweat test.The sweat test is still the cornerstone of diagnosis of CF and is classified: ‘‘normal’’ if the chloride concentration is ≤ 29 mmol/L; ‘‘intermediate’’: 30 - 59 mmol/L and ‘‘positive’’ : ≥ 60 mmol/L . Screening can only have beneficial effects if it is followed by strict adherence to the established standards of care for example: treatment for eradication must be initiated as soon as Pseudomonas aeruginosa is detected for the first time. Treatments are currently available that target the underlying defect that causes the disease. These new therapies aim to improve CFTR function using compounds that act on the protein, which may be correctors or potentiators that have proven to be efficacious (improvements in lung functionand body mass index, and reductions in the chloride concentration in sweat and of the number of exacerbations. It is essential to follow guidelines for the diagnosis and follow-up of patients with CF identified through neonatal screening. | |
| 简介： Silvia Gartner, MD, is specialist in Paediatrics and Pneumology, Coordinator of Paediatrics Cystic Fibrosis Centre (Hospital Universitari Vall d’Hebron,) Barcelona. Representative at the core committee of the newborn screening group and Standards of care group of European Cystic Fibrosis Society. She is the principal investigator of the ECFC Clinical Network, Barcelona center. Participation: National and international CF Consensus; 70 national and internationalconference as speaker.. Editor of CF book ( Spanish). Research projects as principal investigator: 20 CF studies.The CF Unit is the most important in Spain in terms of number of patients being followed-up, and in terms of its organization. | |
