X-linked hypophosphatemia, fibroblast growth factor 23 signaling, and craniosynostosis

被引：1

作者：

Grimbly, Chelsey ^{[1
,2
]}

Graf, Daniel ^{[2
,3
]}

Ward, Leanne M. ^{[4
]}

Alexander, R. Todd ^{[1
,2
]}

机构：

[1] Univ Alberta, Dept Pediat, Edmonton Clin Hlth Acad, Edmonton, AB T6G 2R7, Canada

[2] Univ Alberta, Women & Childrens Hlth Res Inst, Edmonton, AB T6G 2R7, Canada

[3] Univ Alberta, Dept Dent & Dent Hyg, Edmonton, AB T6G 2R7, Canada

[4] Univ Ottawa, Childrens Hosp Eastern Ontario, Fac Med, Div Endocrinol & Metab,Dept Pediat, Ottawa, ON K1H 8L1, Canada

来源：

EXPERIMENTAL BIOLOGY AND MEDICINE | 2023年 / 248卷 / 22期

关键词：

Rickets; phosphate; craniosynostosis; fibroblast growth factor 23; hypophosphatemia; X-linked hypophosphatemia; ALKALINE-PHOSPHATASE; SAGITTAL SYNOSTOSIS; FGF RECEPTOR; RICKETS; BONE; RESISTANT; PHEX; MINERALIZATION; OSTEOPONTIN; GENE;

D O I：

10.1177/15353702231222023

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

This review summarizes the current knowledge of fibroblast growth factor 23 signaling in bone and its role in the disease pathology of X-linked hypophosphatemia. Craniosynostosis is an under-recognized complication of X-linked hypophosphatemia. The clinical implications and potential cellular mechanisms invoked by increased fibroblast growth factor 23 signaling causing craniosynostosis are reviewed. Knowledge gaps are identified and provide direction for future clinical and basic science studies.

引用

页码：2175 / 2182

页数：8

共 78 条

[1] Phosphorylation-Dependent Inhibition of Mineralization by Osteopontin ASARM Peptides Is Regulated by PHEX Cleavage
Addison, William N.
Masica, David L.
Gray, Jeffrey J.
McKee, Marc D.
[J]. JOURNAL OF BONE AND MINERAL RESEARCH, 2010, 25 (04) : 695 - 705
[2] Addison WN., 2008, J BONE MINER RES, V23
[3] ASSESSMENT AND INTERPRETATION OF THE TUBULAR THRESHOLD FOR PHOSPHATE IN INFANTS AND CHILDREN
ALON, U
HELLERSTEIN, S
[J]. PEDIATRIC NEPHROLOGY, 1994, 8 (02) : 250 - 251
[4] CYP24 inhibition as a therapeutic target in FGF23-mediated renal phosphate wasting disorders
Bai, Xiuying
Miao, Dengshun
Xiao, Sophia
Qiu, Dinghong
St-Arnaud, Rene
Petkovich, Martin
Gupta, Ajay
Goltzman, David
Karaplis, Andrew C.
[J]. JOURNAL OF CLINICAL INVESTIGATION, 2016, 126 (02) : 667 - 680
[5] Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia
Barros, Nilana M. T.
Hoac, Betty
Neves, Raquel L.
Addison, William N.
Assis, Diego M.
Murshed, Monzur
Carmona, Adriana K.
McKee, Marc D.
[J]. JOURNAL OF BONE AND MINERAL RESEARCH, 2013, 28 (03) : 688 - 699
[6] Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice
Beck, L
Soumounou, Y
Martel, J
Krishnamurthy, G
Gauthier, C
Goodyer, CG
Tenenhouse, HS
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1997, 99 (06) : 1200 - 1209
[7] FGF23 and its role in X-linked hypophosphatemia-related morbidity
Beck-Nielsen, Signe Sparre
Mughal, Zulf
Haffner, Dieter
Nilsson, Ola
Levtchenko, Elena
Ariceta, Gema
Collantes, Carmen de Lucas
Schnabel, Dirk
Jandhyala, Ravi
Makitie, Outi
[J]. ORPHANET JOURNAL OF RARE DISEASES, 2019, 14 (1)
[8] Incidence and prevalence of nutritional and hereditary rickets in southern Denmark
Beck-Nielsen, Signe Sparre
Brock-Jacobsen, Bendt
Gram, Jeppe
Brixen, Kim
Jensen, Tina Kold
[J]. EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2009, 160 (03) : 491 - 497
[9] FGF23 is processed by proprotein convertases but not by PHEX
Beret-Pagès, A
Lorenz-Depiereux, B
Zischka, H
White, KE
Econs, MJ
Strom, TM
[J]. BONE, 2004, 35 (02) : 455 - 462
[10] Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy
Bergwitz, Clemens
Miyamoto, Ken-Ichi
[J]. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 2019, 471 (01): : 149 - 163

← 1 2 3 4 5 6 7 8 →