Autosomal dominant polycystic kidney disease (
ADPKD) is among the most common hereditary nephropathies. Low bone turnover
osteopenia has been reported in mice with conditional deletion of the PKD1 and PKD2 genes in osteoblasts, and preliminary clinical data also suggest suppressed bone turnover in patients with
ADPKD. The present study compared the bone phenotype between patients with
end stage renal disease (
ESRD) due to
ADPKD and controls with
ESRD due to other causes. Laboratory parameters of bone
mineral metabolism (
fibroblast growth factor 23 and sclerostin), bone turnover markers (bone
alkaline phosphatase,
tartrate-resistant acid phosphatase 5b) and bone mineral density (BMD, by dual energy x-ray absorptiometry, DXA) were assessed in 518 patients with
ESRD, including 99 with
ADPKD. Bone histomorphometry data were available in 71 patients, including 10 with
ADPKD. Circulating levels of bone
alkaline phosphatase were significantly lower in patients with
ADPKD (17.4 vs 22.6 ng/mL), as were histomorphometric parameters of bone formation. Associations between
ADPKD and parameters of bone formation persisted after adjustment for classical determinants including
parathyroid hormone, age, and sex. BMD was higher in skeletal sites rich in cortical bone in patients with
ADPKD compared to non-
ADPKD patients (Z-score midshaft radius -0.04 vs -0.14; femoral neck -0.72 vs -1.02). Circulating sclerostin levels were significantly higher in
ADPKD patients (2.20 vs 1.84 ng/L). In conclusion, patients with
ESRD due to
ADPKD present a distinct bone and
mineral phenotype, characterized by suppressed bone turnover, better preserved cortical BMD, and high sclerostin levels.