Sensitivity of Fibroblast Growth Factor 23 Measurements in Tumor-Induced Osteomalacia

Imel, Erik A.; Peacock, Munro; Pitukcheewanont, Pisit; Heller, Howard J.; Ward, Leanne M.; Shulman, Dorothy I.; Kassem, Moustapha; Rackoff, Paula; Zimering, Mark B; Dalkin, Alan C.; Drobny, Elaine C.; Colussi, Giacomo; Shaker, Joseph L.; Hoogendoorn, Elizabeth H.; Hui, Siu L.; Econs, Michael J.

doi:10.1210/jc.2005-2105

Cited by 208 publications

(155 citation statements)

References 30 publications

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“…TIO occurs mainly in adults with a mean age of 45 ± 16 years [7] and men and women appear to be equally this limitation, the survey produced the same estimated incidence of XLH as the previous report [5].…”

Section: Discussionsupporting

confidence: 55%

Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment

et al. 2015

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FIBROBLAST GROWTH FACTOR 23 (FGF23) is a hormone produced by bone and reduces serum phosphate by inhibiting proximal tubular phosphate reabsorption and intestinal phosphate absorption through decreasing serum 1,25-dihydroxyvitamin D [1]. It has been shown that excessive actions of FGF23 cause several kinds of FGF23-related hypophosphatemic Abstract. A nationwide epidemiologic survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases was conducted in 2010 to clarify the prevalence and the clinical presentations of the disorders. A questionnaire inquiring the experience of patients with these diseases was sent to randomly selected hospitals throughout Japan. The estimated annual incidence of the diseases was 117 cases (95% CI 75 -160), 55 males (95% CI 30 -81) and 62 females (95% CI 40 -84). Tumor-induced osteomalacia (TIO) and X-linked hypophosphatemic rickets (XLH) were the most prevalent causes of acquired and genetic FGF23-related hypophosphatemic diseases, respectively. The estimated incidence of XLH was about 1 in 20,000. We have also collected clinical data of the patients by a secondary survey. These patients showed FGF23 levels of above 30 pg/mL by intact assay in the presence of hypophosphatemia. While complete resection of responsible tumors improved biochemical abnormalities in patients with TIO, treatment with phosphate and/or active vitamin D 3 did not normalize serum phosphate and tubular maximum transport of phosphate in patients with XLH. Our results suggest that there is no racial difference in the incidence of XLH. While FGF23 measurement is useful for the diagnosis of FGF23-related hypophosphatemic diseases, the better management is necessary especially for patients with genetic hypophosphatemic rickets caused by excessive actions of FGF23.

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Section: Discussionsupporting

confidence: 55%

Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment

et al. 2015

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“…45,46 Patients with TIO display even higher values of S-FGF23 than the XLHR patients in this study, mean 934 ± 1115 pg ml À1 vs 198 ± 401 pg ml À1 . 47 Thus, if patients suspected to have HR display S-FGF23 levels exceeding approximately 4-500 pg ml À1 , one should bear the differential diagnosis of TIO in mind. One patient in this study had a markedly elevated S-FGF23 of 2430 pg ml À1 .…”

Section: Discussionmentioning

confidence: 99%

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

et al. 2012

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This study aimed to identify the underlying genetic mutation in patients with hypophosphatemic rickets (HR). Genomic DNA was analysed for mutations in PHEX, FGF23 and CLCN5 by polymerase chain reaction (PCR) followed by denaturing highperformance liquid chromatography (dHPLC). Bi-directional sequencing was performed in samples with deviating chromatographic profiles. DMP1 and SLC34A3 were sequenced, only. In addition, a multiplex ligation-dependent probe amplification (MLPA) analysis was performed to detect larger deletions/duplications in PHEX or FGF23. Familial cases accounted for 12 probands while 12 cases were sporadic. In 20 probands, mutations were detected in PHEX of which 12 were novel, and one novel frameshift mutation was found in DMP1. Three PHEX mutations were identified by the MLPA analysis only; that is, two large deletions and one duplication. No mutations were identified in FGF23, SLC34A3 or CLCN5. By the methods used, a disease causing mutation was identified in 83% of the familial and 92% of the sporadic cases, thereby in 88% of the tested probands. Genetic analysis performed in HR patients by PCR, dHPLC, sequencing and in addition by MLPA analysis revealed a high identification rate of gene mutations causing HR, including 12 novel PHEX and one novel DMP1 mutation.

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“…Blood samples stored at the University of Vermont Laboratory for Clinical Biochemistry were shipped on dry ice to the University of Washington, where serum FGF‐23 concentrations were measured using the Kainos Immunoassay,24 which detects the full‐length biologically intact FGF‐23 molecule via midmolecule and distal epitopes. Standardized high‐ and low‐value FGF‐23 controls within each run were used to monitor quality control.…”

Section: Methodsmentioning

confidence: 99%

Fibroblast Growth Factor‐23 and Heart Failure With Reduced Versus Preserved Ejection Fraction: MESA

Almahmoud

Soliman

Bertoni

et al. 2018

JAHA

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BackgroundHigher fibroblast growth factor‐23 (FGF‐23) levels are associated with incident heart failure (HF) in MESA (the Multiethnic Study of Atherosclerosis). FGF‐23 is also associated with left ventricular hypertrophy. Whether the FGF‐23 association with HF is similar for heart failure with reduced ejection fraction (HFrEF) and heart failure with preserved ejection fraction (HFpEF) is not well established.Methods and ResultsWe studied 6542 participants (mean age 62±10 years, 53% women, mean estimated glomerular filtration rate of 81±18 mL/min per 73 m2) from MESA who were free of cardiovascular disease at baseline (2000–2002). HF events were ascertained by an adjudication committee for a median follow‐up of 12.1 years. We classified HF events as HFrEF (ejection fraction [EF] <50%) or HFpEF [EF] ≥50%) at the time of diagnosis. Cox proportional hazard regression was used to compute hazard ratios and 95% confidence intervals for the association between baseline serum FGF‐23 and incident HFrEF and HFpEF. A total of 134 events were classified as HFpEF, 151 HFrEF, and 49 unknown EF. Following imputation, 149 were classified as HFpEF, 176 HFrEF, and 291 participants had HF (34 participants had HFpEF then HFrEF). In the fully adjusted model, higher FGF‐23 levels were associated with incident HFpEF but not with HFrEF (hazard ratio 1.29, 95% confidence interval, 1.08–1.54) versus (hazard ratio 1.04, 95% confidence interval, 0.84–1.29) for each 20 pg/mL higher serum FGF‐23 concentration.Conclusions FGF‐23 association with HF is driven by the association with HFpEF but not with HFrEF in a population‐based cohort. Further studies are needed to determine the pathological mechanisms mediating this association.

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Sensitivity of Fibroblast Growth Factor 23 Measurements in Tumor-Induced Osteomalacia

Cited by 208 publications

References 30 publications

Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment

Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

Fibroblast Growth Factor‐23 and Heart Failure With Reduced Versus Preserved Ejection Fraction: MESA

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