Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.

Patients with interstitial lung disease due to surfactant protein C (SFTPC) mutations are rare and not well characterised. We report on all subjects collected over a 15-year period in the kids-lung register with interstitial lung disease and a proven SFTPC mutation. We analysed clinical courses, interventions and outcomes, as well as histopathological and radiological interrelations.

Omalizumab: a new treatment option for allergic bronchopulmonary aspergillosis in patients with cystic fibrosis.

Background: Allergic bronchopulmonary aspergillosis (ABPA) is a severe complication in patients with cystic fibrosis (CF), resulting in deterioration of lung function and impairment of overall prognosis. Standard therapy consists of high dosage, long-term corticosteroid treatment. This carries the risk of serious side effects such as immune suppression, diabetes and osteoporosis.

Prevalence of thrombophilia and catheter-related thrombosis in cystic fibrosis.

Venous thrombosis in children and young adults is frequently associated with predisposing conditions and with an indwelling catheter or totally implantable venous access device (TIVAD). These systems are commonly used for the delivery of antibiotic therapy in patients with cystic fibrosis (CF). We reviewed our CF center's history of catheter-related events over 13 years and prospectively investigated the presence of risk factors for thrombosis in 66 children and adults with CF (age, 3-38 years; 32 females).

Effect of DNase on exercise capacity in cystic fibrosis.

DNase can reduce viscosity and facilitate expectoration of airway secretions in cystic fibrosis (CF) lung disease. We evaluated its effect on exercise performance in relation to resting pulmonary function. Fifteen sputum-producing CF patients (aged 9-28 years; FEV1 22-83% predicted) performed spirometry, body plethysmography, nitrogen washout, and incremental cardiopulmonary exercise testing before and after 8 weeks of first-time treatment with daily inhaled rhDNase.