ArticleProceedings of the National Academy of Sciences of the United States of America2008
A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers.
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Who cites it
113 citing papers in PubMed, 240 citations in OpenAlex.
- Infigratinib Reduces Fibroblast Growth Factor 23 (FGF23) and Increases Blood Phosphate in Tumor-Induced Osteomalacia.JBMR plus · 2022Trial
- Antiaging Properties of the Klotho Protein.Cells · 2026Review
- Brain-Bone Axis in Physiological and Pathological Conditions.International journal of molecular sciences · 2025Review
- Observational
- Review
- Klotho is highly expressed in the chief sites of regulated potassium secretion, and it is stimulated by potassium intake.Scientific reports · 2024Article
- Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology.Frontiers in endocrinology · 2024Review
- Distinct role of Klotho in long bone and craniofacial bone: skeletal development, repair and regeneration.PeerJ · 2024Review
- U-shaped association between serum Klotho and accelerated aging among the middle-aged and elderly US population: a cross-sectional study.BMC geriatrics · 2023Article
- Klotho in Cancer: Potential Diagnostic and Prognostic Applications.Diagnostics (Basel, Switzerland) · 2023Review
- Differential toxicity profile of secreted and processed α-Klotho expression over mineral metabolism and bone microstructure.Scientific reports · 2023Article
- Soluble Klotho protects against glomerular injury through regulation of ER stress response.Communications biology · 2023Article
- Review
- Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.Nature reviews. Endocrinology · 2022Review
- Shedding Light on the Complex Regulation of FGF23.Metabolites · 2022Review
- The regulation of FGF23 under physiological and pathophysiological conditions.Pflugers Archiv : European journal of physiology · 2022Review
- Dominant factors of the phosphorus regulatory network differ under various dietary phosphate loads in healthy individuals.Renal failure · 2021Article
- FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.International journal of molecular sciences · 2021Review
- Review
- Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.International journal of molecular sciences · 2021Article
53 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Phosphate homeostasis is central to diverse physiologic processes including energy homeostasis, formation of lipid bilayers, and bone formation. Reduced phosphate levels due to excessive renal loss cause hypophosphatemic rickets, a disease characterized by prominent bone defects; conversely, hyperphosphatemia, a major complication of renal failure, is accompanied by parathyroid hyperplasia, hyperparathyroidism, and osteodystrophy. Here, we define a syndrome featuring both hypophosphatemic rickets and hyperparathyroidism due to parathyroid hyperplasia as well as other skeletal abnormalities. We show that this disease is due to a de novo translocation with a breakpoint adjacent to alpha-Klotho, which encodes a beta-glucuronidase, and is implicated in aging and regulation of FGF signaling. Plasma alpha-Klotho levels and beta-glucuronidase activity are markedly increased in the affected patient; unexpectedly, the circulating FGF23 level is also markedly elevated. These findings suggest that the elevated alpha-Klotho level mimics aspects of the normal response to hyperphosphatemia and implicate alpha-Klotho in the selective regulation of phosphate levels and in the regulation of parathyroid mass and function; they also have implications for the pathogenesis and treatment of renal osteodystrophy in patients with kidney failure.
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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.