ArticleIndian pediatrics2025
FGF23-Mediated Hypophosphatemic Rickets: Phenotype, Genotype, and Comparison to Non-FGF23-Mediated Forms.
Article in Indian pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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10 authors.
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Abstract
objectiveTo 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).
methodsClinical, 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.
resultsThirteen 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)
conclusionParathormone, urinary calcium/creatinine ratio, and 1,25 (OH)
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