ReviewBoneKEy reports2016
Skeletal implications and management of cystinosis: three case reports and literature review.
Review in BoneKEy reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment.Pediatric nephrology (Berlin, Germany) · 2018Trial
- Cystinosis-associated metabolic bone disease: pathogenesis and outcome.Pediatric nephrology (Berlin, Germany) · 2026Review
- Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.Nature reviews. Nephrology · 2026Review
- From Cysteamine to Pepstatin A: Targeting Cathepsin D To Improve Bone Health in Cystinosis.International journal of biological sciences · 2026Article
- The assessment and treatment of the musculoskeletal manifestations of cystinosis.Frontiers in nephrology · 2025Review
- Cystinosis metabolic bone disease: inflammatory profile in human peripheral blood mononuclear cells and derived osteoclasts.European journal of pediatrics · 2024Article
- Cortical impairment and reduced muscle mass in children and young adults with nephropathic cystinosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Review
- Cysteamine affects skeletal development and impairs motor behavior in zebrafish.Frontiers in pharmacology · 2022Article
- Peripheral Blood Mononuclear Cells (PBMCs) to Dissect the Underlying Mechanisms of Bone Disease in Chronic Kidney Disease and Rare Renal Diseases.Current osteoporosis reports · 2021Review
- Review
- Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy.International journal of molecular sciences · 2020Review
- Skeletal Consequences of Nephropathic Cystinosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2018Article
- Genetics of Refractory Rickets: Identification of NovelJournal of pediatric genetics · 2018Review
- The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.Nature reviews. Nephrology · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypophosphatemic rickets and short stature are observed in nephropathic cystinosis, an orphan autosomal recessive lysosomal storage disease due to a deficiency of cystinosin (CTNS gene). Although bone impairment is not common, it nevertheless appears to be more and more discussed by experts, even though the exact underlying pathophysiology is unclear. Four hypotheses are currently discussed to explain such impairment: copper deficiency, bone consequences of severe hypophosphatemic rickets during infancy, cysteamine toxicity and abnormal thyroid metabolism. In murine models, the invalidation of the CTNS gene is associated neither with renal phosphate wasting nor with renal failure, but causes severe osteopenia and growth retardation, thus raising the hypothesis of a specific underlying bone defect in cystinosis. Moreover, the in vitro ability of mesenchymal stromal cells isolated from bone marrow to differentiate along the osteoblastic lineage is reduced in patients with cystinosis as compared with cells obtained from healthy controls, this cellular abnormality being reverted after cysteamine treatment. From our experience of three pediatric patients with cystinosis and severe bone deformations having undergone a thorough biochemical evaluation, as well as a bone biopsy, we conclude that even though copper deficiency, high-doses cysteamine regimens and abnormal thyroid metabolism may worsen the bone picture in cystinosis patients, the exact pathophysiology of such impairment remains to be defined. The role of chronic hypoparathyroidism due to chronic phosphate wasting could also be discussed. In the future, larger and prospective studies should focus on this topic because of the potential major impact on patients' quality of life.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.