Objective: To determine the prevalence and clinical features of malnutrition and its relationship with the CFTR genotype in a cystic fibrosis (CF) adult population.
Design: Cross-sectional study.
Setting: Department of Pulmonology, Cochin Hospital, Paris, France.
Subjects: 163 CF adults seen between 1997 and 1999.
Results: Mean age was 28.8 y. Mean body mass index (BMI) was 19.1 kg/m2. Malnutrition (BMI<18.5 kg/m2) was seen in 81 patients (49.7%). Its severity was associated with diagnosis of CF before the age of 18 y (P<0.01), FEV1 values below 30% (P<0.01), the yearly decline of FEV1 (P<0.01), pancreatic insufficiency (P<0.01) and gastro-oesophageal reflux (P<0.01). Malnutrition was observed in 58.7% of patients with a severe CFTR genotype but in 28.6% of patients with a mild genotype (P<0.001).
Conclusion: Malnutrition remains frequent in adults with CF except in patients presenting with a mild CFTR genotype (leading to a mild phenotype and to later diagnosis).