TY - JOUR T1 -新生儿囊性纤维化筛查结果假阴性后诊断为囊性纤维化患者的特征JF -欧洲呼吸杂志JO - Eur Respir J DO - 10.1183/13993003.国会-2019。PA4523 VL - 54 IS - sul 63 SP - PA4523 AU - Ergenekon, Pinar AU - Atag, Emine AU - Bas İkizoglu, Nilay AU - Yilmaz Yegit, Cansu AU - Gokdemir, Yasemin AU - Erdem Eralp, Ela AU - Karadag, Bulent Y1 - 2019/09/28 UR - //www.qdcxjkg.com/content/54/suppl_63/PA4523.abstract N2 -介绍和目的:自2015年1月1日起，我国开始实施新生儿筛查计划。本研究的目的是报道2015年1月以来CFNBS假阴性结果后诊断为CF的患者的临床和基因型特征。材料与方法:IRT值大于90ng /ml和2。IRT值大于70被认为是可疑的，需要进行汗液测试。汗液试验值大于60 mmol/L为阳性。结果:我院2015-2018年共确诊CF 63例。84.2% (n = 53)的CFNBS结果为阳性，15.8% (n = 10)的IRT值为假阴性。纳入研究的10例患者中，50%为女孩，平均年龄30.7±8.8个月(12-39个月);平均确诊年龄为152±147天(28 ~ 480天)。 Genetic mutation was detected in all patients. The first IRT level was above 90 µg/l in 40% (n = 4) of the patients. 40% of the patients had pancreatic insufficiency and Pseudobartter was detected in 70% of patients. Pseudomonas aeroginosa growth in sputum culture was detected in 60% of patients whereas MRSA growth was 10%. 30% of the patients had anemia.Conclusion: Regardless of the results of the newborn screening tests, patients with symptoms supporting CF should be further evaluated. For the patients with intermediate sweat test results, genetic analysis should be performed for CF. As seen in our study, it should be kept in mind that IRT negativity may also occur in mutations that cause severe CF.FootnotesCite this article as: European Respiratory Journal 2019; 54: Suppl. 63, PA4523.This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only). ER -