Mukoviszidose – wenn die Diagnose unsicher bleibt

The goal of newborn screening (NBS) for cystic fibrosis (CF) is an early diagnosis. If the diagnosis cannot be conclusively made by using sweat testing and genetic diagnostics, the term “cystic fibrosis screening positive inconclusive diagnosis” (CFSPID) is used for description. Such ambiguous constellations of findings are also possible after CF diagnostics which are independent from of NBS. There is only very few long-term data reying to answer the question, whether these people will fulfill the diagnostic criteria for CF later in time, or when the suspicion of CF is no longer present. Therefore, recommendations are given for care, diagnostics over time and documentation based on the European and North American guidelines. The recommendations focus on children with CFSPID until school age. For this time period a routine follow-up in a specialized CF outpatient center with regular re-evaluation of the symptoms is recommended. Before starting school an individual decision should be made in a critical synopsis of the findings on whether the diagnosis of CFSPID is still valid or should be changed into a diagnosis of CF or a cystic fibrosis transmembrane conductance regulator-related disorder (CFTR-RD) or if the results obtained so far are no longer indicative of CF and in the best case scenario the specialized care can be terminated. Through the documentation of the medical history data in a register, these recommendations should be adapted based on the experience gained.