Recently, fibroblast growth factor 23 (FGF23) has sparked widespread interest because of its potential role in regulating phosphate and vitamin D metabolism. In this review, we summarized the FGF superfamily, the mechanism of FGF23 on phosphate and vitamin D metabolism, and the FGF23 related bone disease.
Secondary low serum FGF23(FGF23 decreased, serum phosphate normal
?ARHR
or decreased, 1,25-(OH)2D increased)
?FD
?Low phosphate diet
?After chalybeate injection through veins
?Vitamin D receptor mutation
Secondary high serum FGF23(serum phosphate normal or increased,
?1α-hydroxylase mutation
1,25-(OH)2D decreased)
?NaPi-2a deficiency/mutation
?Chronic nephrosis
?NaPi-2c mutation (HHRH)
?High phosphate diet
?Klotho deficiency disease
Tab.3
Fig.9
Fig.9
OMIM
Gene
Mutation
Pathophysiology
Pi
1,25-(OH)2D
FGF23
C-terminal FGF23
ADHR
193100FGF23: 605380)
FGF23
Active
Stability of FGF2 molecule ↑
↓
?
?/↑
?/↑
XLH
307800(PHEX: 300550)
PHEX
Inactive
OsteocyteFGF23 synthesis↑
↓
?/↓
?/↑
?/↑
ARHR
241520(DMP1: 600980)
DMP1
Inactive
OsteocyteFGF23 synthesis↑
↓
?
?/↑
?/↑
MAS/FD
174800
GNAS1
Active
LesionFGF23 synthesis ↑
↓
?
? /↑
?/↑
TIO
605380(FGF23)
–
–
TumorFGF23 synthesis ↑
↓
?/↓
? / ↑
?/↑
TC
211900
FGF23
Inactive
Stability of FGF2 molecule↓
↑
?/↑
↓
↑
TC
211900(GALNT3: 601756)
GALNT3
Inactive
Stability of FGF2 molecule↓
↑
?/↑
↓
↑
HHS
610233
GALNT3
Inactive
Stability of FGF2 molecule↓
↑
?/↑
↓
↑
TC
211900(KL604824)
KL
Inactive
Stability of FGF2 molecule↓
↑
?/↑
↑
↑
Tab.4
Patient
Mother
Father
Normal control
Gene type
R182W/S192L
R182W
S192L
2.4–4.7
Serum phosphate(mg/dl)
3.7
3.6
3.2
8.6–10.4
Serum calcium(mg/dl)
9.9
9.6
9.7
42–128
ALP(U/L)
581–765
108
71
Urinary calcium(mg)
235
249
353
Male<250Female<200
Urinary Ca/Cr(mg/mg)
0.46
0.23
0.20
<0.18
TRP1(%)
83
83
84
>80
TmP/GFR1(μmol/ml)
0.79
0.81–1.10
25-(OH)D(ng/ml)
20
41
35
20–100
1,25-(OH)2D(pg/ml)
377
61
59
20–71
Tab.5
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