Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment

Background Bone impairment appears to be a novel complication of nephropathic cystinosis despite cysteamine therapy. Its exact underlying pathophysiology is nevertheless unclear. The objective of this study was to evaluate bone status among patients included in the French Crystobs study. Methods In addition to clinical data, bone statuswas evaluated using biomarkers (ALP, PTH, 25-D, 1-25D, FGF23), DXA (spine and total body), and high-resolution peripheral quantitative computed tomography (HR-pQCT) at the tibia and radius. Results were compared to age-and gender-matched healthy controls (1: 2 basis) from the local reference cohorts. Results At a median age of 22.5 (10.2-34.6) years, 10 patients with nephropathic cystinosis were included (2 receiving conservative therapies, 2 undergoing hemodialysis, 6 with a past of renal transplantation); 7 out of 10 patients complained of a bone symptom (past of fracture, bone deformations, and/ or bone pain). Biochemicals and spineDXAdid not show any significant abnormalities. Using HRpQCT, significant decreases in cortical parameters (e. g., cortical thickness 850 (520-1100) versus 1225 (480-1680) mu m; p < 0.05) and total volumetric bone mineral density (290 (233-360) versus 323 (232-406) mg/ cm3; p < 0.05) were observed in cystinotic patients in comparison to controls at the tibia. There were no differences for trabecular parameters. Similar results were observed at the radius. Conclusions In this pilot study, bone impairment (rather cortical than trabecular) is a significant clinical problem in nephropathic cystinosis; 70% of patients displayed significant bone symptoms, during teenage or young adulthood. This new complication should be known by physicians because of its potential dramatic impact on quality of life.