Diagnosis and treatment of cystic fibrosis

This review discusses some diagnostic aspects of cystic fibrosis (CF) inclu ding direct mutational analysis. Treatment of major disease manifestations is discussed in more detail with an emphasis on lung disease, in particular chronic infection with Pseudomonas aeruginosa which is responsible for the majority of excess morbidity and mortality. Centralised care and aggressiv e antimicrobial treatment have led to increased life expectancy and this ma y be even further increased by the demonstration that chronic P, aeruginosa infection may be prevented, or at least postponed for many years in a majo rity of patients. Adjunct treatment such as the use of local and systemic a nti-inflammatory agents and inhalation of human recombinant DNase are also briefly touched upon. It is emphasised that important questions concerning the link(s) between the mutated gene and lung disease are still missing but that current research raises hope of a more causal treatment in the near f uture. Copyright (C) 2000 S. Karger AG. Basel.