Mucoviscidose: Späte Diagnose trotz typischer Klinik

An 18-year-old girl was hospitalized because of a treatment-refractory broncho-pneumonia requiring artificial ventilation. She had been suffering from recurrent respiratory infection since the age of three years. Chest X-ray films demonstrated bronchiectasis: Pseudomonas, Klebsiella and Candida albicans were isolated from the respiratory tract. The correct diagnosis of the underlying disease had not previously been made. A sweat test, when aged 15 years, was borderline abnormal. Despite the application of all available therapeutic measures she died in cardiorespiratory failure from an overwhelming pulmonary infection. The typical clinical features and the findings at autopsy established the diagnosis of mucoviscidosis.