Cystic fibrosis-related bone disease

Abstract

This review highlights recently published data on the pathophysiology, guidelines and treatment of cystic fibrosis (CF)-related bone disease. The exact role of the cystic fibrosis transmembrane conductance regulator (CFTR), specifically the ΔF508 allele, has been investigated in F508del-CFTR homozygous mice and the F508del-CFTR mutation may contribute to CF-related bone disease by slowing new bone formation. The European Cystic Fibrosis Society has issued guidelines for bone mineral density assessment, management of low-trauma fractures and bisphosphonate therapy. A systematic review based on meta-analyses reports that oral and intravenous bisphosphonates both improve bone mineral density in CF patients, but no data are available concerning the reduction of low-trauma fractures. European Cystic Fibrosis Society guidelines may help physicians to improve the management of CF-related bone disease.