As decreased bone mineral density (BMD) is a common problem in cystic fibrosis (CF) and milk products may have pivotal dietary role affecting BMD, we aimed to assess the potential influence of adult-type hypolactasia (ATH) and lactose malabsorption (LM) on BMD in adolescent and young adult patients. In 95 CF pancreatic-insufficient patients aged 10-25 years (without liver cirrhosis, steatosis and cholestasis, diabetes mellitus, systemic glucocorticoid therapy), lumbar BMD, the nutritional status, pulmonary function, vitamin D3 concentration, calcium intake and single-nucleotide polymorphism upstream of the lactase gene were assessed. In subjects with the À13910 C/C genotype predisposing to ATH, the presence of LM was determined with the use of a hydrogen-methane breath test (BT). BMD and calcium intake were significantly lower in patients with the C/C genotype (Po0.028 and Po0.043, respectively). The abnormal BMD was stated more frequently in patients with the C/C genotype (Po0.042) and with LM (Po0.007). BMD, daily calcium intake and serum vitamin D concentration were significantly lower in LM subjects than in the other patients (Po0.037, Po0.000004 and Po0.0038, respectively). In logistic regression analysis, the relationship between examined parameters and BMD, was found to be statistically significant (Po0.001). However, only standardized body weight and LM were documented to influence BMD (Po0.025 and Po0.044, respectively). In conclusion, LM seems to be an independent risk factor for decreased BMD in CF patients.