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Cystinosis-associated metabolic bone disease: pathogenesis and outcome.

Key takeaways

This is a review of the bone disease that comes with cystinosis, a rare inherited illness where a protein building block called cystine piles up inside cells. The kidneys are hit first, with the kidney's reabsorbing tubes failing at around 6 to 12 months of age unless a cystine-clearing drug called cysteamine is started. The authors pull together what is known about why the bones weaken and how patients do over time. It summarizes other work, so there are no new results in it.

Who did this work

Schön A · Szaroszyk M · Haffner D

Source

Article · PubMed, CKD progression and prevention · 2026 Sep 4
https://pubmed.ncbi.nlm.nih.gov/42697975/