Tthe Royal London Hospital, Paediatric CF Centre, United Kingdom.
Paediatr Respir Rev. 2019 Aug;31:21-24. doi: 10.1016/j.prrv.2019.02.009. Epub 2019 Mar 12.
Newborn screening and extensive genetic analysis has led to the recognition of a cohort of infants with an equivocal diagnosis of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) disease. This paper reviews the comprehensive approach required for diagnosis of Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) and uses an illustrative case with p.Asp1152His (D1152H) mutation to examine the varying clinical phenotype seen amongst CFSPID patients. Whilst infants are well at diagnosis, uncertainties about cystic fibrosis (CF) disease progression indicate the importance of monitoring and early specialist involvement. However, over-medicalisation can cause significant psychosocial impact on patients' and families. The complexities underlying the surveillance and long-term management of patients with CFSPID are explored.
新生儿筛查和广泛的基因分析导致人们认识到一群婴儿的囊性纤维化跨膜电导调节因子 (CFTR) 疾病诊断存在疑问。本文回顾了诊断囊性纤维化筛查阳性、不确定诊断 (CFSPID) 所需的综合方法，并使用带有 p.Asp1152His (D1152H) 突变的病例来检查 CFSPID 患者中不同的临床表型。虽然婴儿在诊断时状况良好，但对囊性纤维化 (CF) 疾病进展的不确定性表明监测和早期专科参与的重要性。然而，过度医疗化会对患者和家庭造成重大的心理社会影响。本文探讨了 CFSPID 患者监测和长期管理所涉及的复杂性。
