Mineral bone disease in autosomal dominant polycystic kidney disease

Berenice Gitomer1, Renata Pereira2, Isidro B Salusky2

  • 1Division of Renal Diseases and Hypertension, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado, USA.

Kidney International
|September 14, 2020
PubMed

Insights

Autosomal dominant polycystic kidney disease (ADPKD) patients show altered bone metabolism with lower bone formation rates. However, ADPKD does not increase fracture risk in end-stage kidney disease patients.

Area of Science:

  • Nephrology
  • Bone Biology
  • Metabolic Diseases

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder often leading to chronic kidney disease.
  • Bone health in early-stage ADPKD patients remains understudied.
  • Previous research in animal models indicates Pkd1 disruption affects bone density.

Purpose of the Study:

  • To investigate the bone phenotype in adult ADPKD patients with early-stage chronic kidney disease.
  • To analyze bone turnover markers and bone biology in ADPKD patients.
  • To assess fracture risk in ADPKD patients with end-stage kidney disease.

Main Methods:

  • Biochemical markers of mineral metabolism were measured in 944 patients.
  • Bone biopsies from 20 ADPKD patients and 17 healthy controls underwent histomorphometry and immunohistochemistry.
  • Fracture risk was analyzed in end-stage kidney disease patients initiating hemodialysis.

Main Results:

  • ADPKD patients had higher intact fibroblast growth factor 23 and lower total alkaline phosphatase.
  • Bone biopsies revealed significantly lower osteoid volume/bone volume and bone formation rate in ADPKD patients compared to controls.
  • End-stage kidney disease due to ADPKD was not associated with increased fracture risk compared to diabetes or other kidney disease etiologies.

Conclusions:

  • Individuals with ADPKD exhibit distinct bone metabolic profiles, including elevated FGF23 and reduced bone formation.
  • Despite altered bone biology, ADPKD does not appear to elevate fracture risk in end-stage kidney disease.
  • Further research may elucidate the long-term skeletal implications of ADPKD.

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