Chronic kidney disease- mineral and bone disorder in autosomal dominant policystic kidney disease

S Lai1, A M Perrotta1, L Tartaglione1

  • 1Department of Translational and Precision Medicine, Nephrology Unit, Sapienza University of Rome, Rome, Italy.

Bone
|September 18, 2025
PubMed

Insights

Autosomal dominant polycystic kidney disease (ADPKD) involves unique mineral and bone disorders, including elevated FGF23 and low bone turnover, even in early chronic kidney disease (CKD) stages. These conditions stem from kidney cysts and Polycystin disruptions, necessitating targeted management.

Area of Science:

  • Nephrology
  • Endocrinology
  • Bone Biology

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic kidney disorder, causing progressive renal function loss.
  • ADPKD patients exhibit unique mineral and bone disorder patterns distinct from general chronic kidney disease (CKD).

Purpose of the Study:

  • To review the distinct mineral and bone disorders in early-stage ADPKD.
  • To highlight the role of FGF23 and Polycystin signaling in ADPKD-related bone complications.

Main Methods:

  • Literature review focusing on mineral and bone disorders in ADPKD.
  • Analysis of the impact of cystic tissues on FGF23 production.
  • Examination of Polycystin-1 and Polycystin-2 roles in bone metabolism.

Main Results:

  • Elevated circulating FGF23 levels due to extraosseous production by kidney and liver cysts in ADPKD.
  • Increased prevalence of low bone turnover disease in ADPKD compared to other CKD forms.
  • Disrupted Polycystin signaling in osteocytes/osteoblasts impairs bone anabolism.

Conclusions:

  • ADPKD-associated mineral and bone disorders require comprehensive monitoring and management.
  • Early intervention and targeted therapies are crucial for mitigating disease progression and improving outcomes in ADPKD patients.

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