Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients

Endo, Itsuro; Fukumoto, Seiji; Ozono, Keiichi; Namba, Noriyuki; Tanaka, Hiroyuki; Inoue, Daisuke; Minagawa, Masahiro; Sugimoto, Toshitsugu; Yamauchi, Mika; Michigami, Toshimi; Matsumoto, Toshio

doi:10.1016/j.bone.2008.02.014

Cited by 189 publications

(136 citation statements)

References 20 publications

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“…Previously, we have proposed that FGF23 levels above 30 pg/mL by intact FGF23 assay in the presence of hypophosphatemia indicate the diseases caused by excessive actions of FGF23 such as TIO and XLH [6]. In this secondary survey, all the patients showed serum FGF23 above 30 pg/mL while serum phosphate was low or low normal range.…”

Section: Discussionmentioning

confidence: 75%

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: Discussionmentioning

confidence: 75%

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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“…Patients were included in this study based on the clinical and biochemical manifestations of congenital hypophosphatemic rickets with FGF23 above 30 pg/ml (14). This study was approved by the institutional review board of the University of Tokyo, and written informed consent was obtained from either the participants or their parents.…”

Section: Patientsmentioning

confidence: 99%

“…Normal values for adults are 8.4-9.7 mg/dl for calcium, 2.5-4.5 mg/dl for phosphate, 20-60 pg/ml for 1,25(OH) 2 D, and 10-50 pg/ml for FGF23. Samples for FGF23 measurements were stored at K20 8C until analysis and measured using a FGF23 ELISA Kit (Kainos, Tokyo, Japan) that detects only full-length FGF23 (14).…”

Section: Biochemical Measurementsmentioning

confidence: 99%

“…We previously showed that FGF23 measurements are useful for the differential diagnosis of FGF23-related hypophosphatemic diseases (14). An ELISA used to detect full-length FGF23 demonstrated that the FGF23 cutoff value to distinguish FGF23-related hypophosphatemic rickets from hypophosphatemia of other causes, such as vitamin D deficiency and Fanconi syndrome, is 30 pg/ml.…”

Section: Introductionmentioning

confidence: 99%

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Mutational analysis of patients with FGF23-related hypophosphatemic rickets

Kinoshita

Saito

Shimizu

et al. 2012

European Journal of Endocrinology

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Objective: X-linked hypophosphatemic rickets (XLHR) caused by mutations in the PHEX gene is considered to be the most frequent cause of fibroblast growth factor 23 (FGF23)-related congenital hypophosphatemic rickets. In previous studies, mutations in the PHEX gene were detected in 60-70% of patients with clinical diagnoses of XLHR. This leads to the question whether current screening methods for mutations in the PHEX gene are inadequate or whether there is a substantial number of patients with other genetic causes of hypophosphatemic rickets. We conducted a genetic analysis of patients with FGF23-related hypophosphatemic rickets to clarify their etiology and evaluate the prevalence of XLHR among this group. Design and methods: We studied 27 patients with familial and sporadic congenital hypophosphatemic rickets in whom serum FGF23 was above 30 pg/ml using an assay for the full-length protein. Exons and exon-intron junctions of genomic DNA of causative genes for FGF23-related hypophosphatemic rickets were sequenced. PHEX mRNA from peripheral blood was analyzed in some patients. Results: Direct sequencing of genomic DNA identified 11 novel and four known mutations in the PHEX gene. Additionally, there was a large PHEX gene deletion in one case and abnormal PHEX mRNA splicing in another. In summary, 26 patients (96%) had XLHR and one patient had autosomal recessive hypophosphatemic rickets 2. Conclusions: XLHR is by far the most prevalent cause of FGF23-related hypophosphatemic rickets. We propose that analysis of PHEX mRNA from peripheral blood would be appropriate for the first screening step in determining the etiology of FGF23-related hypophosphatemic rickets.

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“…Binding of Ca to CASR activates several intracellular signaling pathways and inhibits PTH secretion [2] Based on these actions of PTH and 1,25(OH) 2 D, hypocalcemia can be divided into two categories, hypocalcemia with high normal or elevated serum phosphate level and hypocalcemia with low normal to reduced serum phosphate level. It should be noted that serum phosphate levels are high during childhood [3], and age of patients should be taken into account to assess serum phosphate levels. Hypocalcemia with high normal to elevated serum phosphate level includes hypoparathyroidism and renal failure.…”

Section: Pathogenesis and Differential Diagnosis Of Hypocalcemia (Figmentioning

confidence: 99%

Causes and Differential Diagnosis of Hypocalcemia -Recommendation Proposed by Expert Panel Supported by Ministry of Health, Labour and Welfare, Japan-

Fukumoto

Namba²,

Ozono³

et al. 2008

Endocr J

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Abstract. Serum calcium (Ca) level is maintained within a narrow range mainly by actions of parathyroid hormone (PTH) and 1,25-dihydroxyvitmain D [1,25(OH) 2 D]. While it is not rare to encounter hypocalcemia in clinical practice, there is currently no practical guideline for the differential diagnosis of hypocalcemia. We therefore propose flowcharts for the differential diagnosis of hypocalcemia and hypoparathyroidism, especially PTH-deficient hypoparathyroidism in which many genetic or other causes have been identified recently. Hypocalcemia can be divided into two categories, hypocalcemia with low serum phosphate level, and one with normal to elevated serum phosphate level. Deficient actions of 1,25(OH) 2 D, loss of Ca into urine, and deposition of Ca in bone or soft tissues are main causes of hypocalcemia with low to low normal serum phosphate level. Hypocalcemia with high normal to high serum phosphate level includes chronic renal failure and hypoparathyroidism. Hypoparathyroidism is subdivided into PTH-deficient hypoparathyroidism and pseudohypoparathyroidism. Recent investigations identified several causes of PTH-deficient hypoparathyroidism, including genetic abnormalities and parathyroid autoantibodies, which should be differentiated from idiopathic hypoparathyroidism. Physical and laboratory findings, the time of the onset of diseases and accompanying illness can be clues for identifying causes of PTH-deficient hypoparathyroidism.

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Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients

Cited by 189 publications

References 20 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 patients with FGF23-related hypophosphatemic rickets

Causes and Differential Diagnosis of Hypocalcemia -Recommendation Proposed by Expert Panel Supported by Ministry of Health, Labour and Welfare, Japan-

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