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<p>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 &gt; 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.</p>

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Autosomal dominant hypophosphatemic rickets: a case report of two sisters with a novel FGF-23 mutation

  • 期刊论文

  • 发表日期：

    2025年7月31日

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  • Giselle Mumbach,
  • Pablo Florenzano,
  • Juan Quinteros,
  • Claudia Ávila,
  • María Belén Zanchetta

摘要

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.