关键词: CFTR modulators N = 1 clinical trials Organoids

Mesh : Child Humans Infant, Newborn Cystic Fibrosis / genetics therapy diagnosis Precision Medicine Mutation Neonatal Screening Cystic Fibrosis Transmembrane Conductance Regulator / genetics

来  源:   DOI:10.1016/j.prrv.2023.06.001

Abstract:
We present a challenging case that illustrates how the clinical manifestations in children with CFTR mutations of uncertain significance may change over time. This case highlights the evolution of confirming a diagnosis of CF and emphasises the importance of regular review and monitoring of this patient cohort.
摘要:
我们提出了一个具有挑战性的案例,说明了具有不确定意义的CFTR突变的儿童的临床表现如何随时间变化。该病例强调了确认CF诊断的进展,并强调了定期审查和监测该患者队列的重要性。
公众号