Cystic fibrosis-related bone disease: insights into a growing problem.
OBJECTIVE
This review will describe the clinical significance, pathogenesis and treatment of cystic fibrosis related bone disease (CFBD).


RESULTS
CFBD continues to increase as the life expectancy of individuals with cystic fibrosis increases. According to clinical guidelines, individuals with cystic fibrosis should be initially screened at the age of 18 years via dual-energy x-ray absorptiometry, if not done so previously. The underlying pathogenesis of CFBD appears to be multifactorial, but increasing data imply a direct impact by the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR deficiency and/or dysfunction impair osteoblast activity and differentiation, and indirectly promote osteoclast formation. Unfortunately, once diagnosed with CFBD, few cystic fibrosis tested medical therapies exist.


CONCLUSIONS
CFBD is an increasingly recognized complication that has a significant impact on the overall health of the individual. Recommendations to identify patients with cystic fibrosis who are at risk for fracture using dual-energy x-ray absorptiometry have been established. Therapeutic agents directly studied in patients with cystic fibrosis are limited to bisphosphonates, although other potential treatment agents exist. Finally, an improved understanding of the pathologic mechanisms will aid in the study and development of therapies.
aDepartment of Pediatrics bDepartment of Medicine, University of Alabama at Birmingham cVeterans Administration Medical Center, Birmingham, Alabama, USA.
Michael S
MS
Stalvey
Gregory A
GA
Clines
D015502:Absorptiometry, Photon; D001847:Bone Diseases / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D003550:Cystic Fibrosis / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000172:deficiency / Q000378:metabolism*; D004164:Diphosphonates / Q000627:therapeutic use; D005260:Female; D050723:Fractures, Bone / Q000503:physiopathology* / Q000517:prevention & control; D006801:Humans; D008297:Male; D008403:Mass Screening; D011788:Quality of Life; D014808:Vitamin D Deficiency / Q000150:complications / Q000503:physiopathology*
C505032:CFTR protein, human; D004164:Diphosphonates; D019005:Cystic Fibrosis Transmembrane Conductance Regulator