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Objective <p>To compare the phenotypic, biochemical, and genotypic characteristics of hereditary FGF23-mediated hypophosphatemic rickets (FGF23-M-HR) and non-FGF23-mediated hypophosphatemic rickets (non-FGF23-M-HR).</p> Methods <p>Clinical, biochemical, and radiological data of genetically proven FGF23-M-HR and non-FGF23-M-HR cases from a single center in western India were compared.</p> Results <p>Thirteen probands (6 familial; 11 females) with FGF23-M-HR with median (IQR) age of symptom onset 2.0 (1.25, 26) years and age at diagnosis 10 (3, 30) years, were included. All, but one, presented with rickets and short stature. There were 12 (7 novel) unique <i>PHEX</i> mutations and one homozygous novel <i>DMP1</i> mutation. FGF23-M-HR had significantly higher parathormone levels (81.9 vs. 25.1&#xa0;pg/mL), lower 1,25 (OH)<sub>2</sub> D (54.9 vs. 103&#xa0;ng/mL), and lower urinary calcium/creatinine ratio (0.006 vs. 0.38). Parathormone &gt; 65.3&#xa0;pg/mL has 100% specificity for diagnosing FGF23-M-HR.</p> Conclusion <p>Parathormone, urinary calcium/creatinine ratio, and 1,25 (OH)<sub>2</sub> D levels can differentiate FGF23-M-HR from non-FGF23-M-HR.</p>

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FGF23-Mediated Hypophosphatemic Rickets: Phenotype, Genotype, and Comparison to Non-FGF23-Mediated Forms

  • 期刊论文

  • 发表日期：

    2025年3月7日

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  • Manjiri Pramod Karlekar,
  • Manjunath Havalappa Dodamani,
  • Anurag Lila,
  • Saba Samad Memon,
  • Anima Sharma,
  • Vijaya Sarathi,
  • Samiksha Hegishte,
  • Rohit Barnabas,
  • Nalini Shah,
  • Tushar Bandgar

摘要

Objective

To compare the phenotypic, biochemical, and genotypic characteristics of hereditary FGF23-mediated hypophosphatemic rickets (FGF23-M-HR) and non-FGF23-mediated hypophosphatemic rickets (non-FGF23-M-HR).

Methods

Clinical, biochemical, and radiological data of genetically proven FGF23-M-HR and non-FGF23-M-HR cases from a single center in western India were compared.

Results

Thirteen probands (6 familial; 11 females) with FGF23-M-HR with median (IQR) age of symptom onset 2.0 (1.25, 26) years and age at diagnosis 10 (3, 30) years, were included. All, but one, presented with rickets and short stature. There were 12 (7 novel) unique PHEX mutations and one homozygous novel DMP1 mutation. FGF23-M-HR had significantly higher parathormone levels (81.9 vs. 25.1 pg/mL), lower 1,25 (OH)2 D (54.9 vs. 103 ng/mL), and lower urinary calcium/creatinine ratio (0.006 vs. 0.38). Parathormone > 65.3 pg/mL has 100% specificity for diagnosing FGF23-M-HR.

Conclusion

Parathormone, urinary calcium/creatinine ratio, and 1,25 (OH)2 D levels can differentiate FGF23-M-HR from non-FGF23-M-HR.