ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2025
Autosomal dominant hypophosphatemic rickets: a case report of two sisters with a novel FGF-23 mutation.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Autosomal dominant hypophosphatemic rickets caused by a novel pathogenic variant inJCEM case reports · 2026Article
- When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia.Current osteoporosis reports · 2026Review
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5 authors.
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Abstract
Autosomal dominant hypophosphatemic rickets (ADHR) is an exceptionally rare condition with fewer than 50 cases reported in the literature Int J Environ Res Public Health 18(16):8771, 2021. We present the cases of two sisters who experienced late-onset ADHR with severe clinical manifestations. Genetic analysis revealed a previously unreported mutation in the FGF-23 gene (chr12:4.370.559 G > T), likely responsible for their condition. These cases highlight the diagnostic challenges, emphasizing the critical need for genetic analysis in all patients suspected of having Tumor-Induced Osteomalacia (TIO) when the tumor remains unidentified, particularly in the presence of iron deficiency anemia.
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