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

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Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder characterized by bilateral renal cysts that detach from parental tubules, progressively leading to renal function loss. Patients with ADPKD represent a unique subset of chronic kidney disease (CKD) individuals, sharing common CKD features while also exhibiting distinct traits specific to ADPKD. This review described the unique patterns of mineral and bone disorders present in ADPKD in the early CKD stages. The principal points are: the extraosseous FGF23 production by cystic tissues in the kidneys and liver, resulting in elevated circulating FGF23 levels with possible impact on calcium and phosphate balance and cardiovascular risk in ADPKD; the higher prevalence of low bone turnover disease in ADPKD than in other forms of CKD. This is likely due to disruptions in signals mediated by the Polycystin-1 and Polycystin-2 heterodimers, which are expressed on the primary cilia of osteocytes and osteoblasts, leading to impaired bone anabolism. Given these insights, a comprehensive approach is essential for monitoring and managing mineral and bone disorders in ADPKD patients. Early intervention and targeted therapies could mitigate the progression of mineral and bone disorders and possibly improve patient outcomes. • ADPKD is characterized by elevated FGF23 levels, largely independent of mineral metabolism, primarily driven by extra-osseous production in renal and hepatic cysts. • ADPKD shows a high prevalence of low bone turnover, partly linked to altered osteocytic primary cilia function. • The clinical implications of elevated FGF23 and low bone turnover on cardiovascular and fracture risk remain unclear. • Biochemical and imaging data in ADPKD should be interpreted in light of these specific features. • Future studies are needed to explore the potential of mineral metabolism–targeted therapies in this population.

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