Literature DB >> 23858620

The changing face of hypophosphatemic disorders in the FGF-23 era.

Janet Y Lee1, Erik A Imel.   

Abstract

In the past decade, research in genetic disorders of hypophosphatemia has significantly expanded our understanding of phosphate metabolism. X-linked hypophosphatemia (XLH) is the most common inherited form of rickets due to renal phosphate wasting. Recent understanding of the mechanisms of disease and role of fibroblast growth factor 23 (FGF-23) in XLH and other hypophosphatemic disorders have opened new potential therapeutic avenues. We will discuss the current standard of treatment for XLH as well as promising future directions under study.

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Year:  2013        PMID： 23858620      PMCID： PMC4170520     

Source DB:  PubMed          Journal:  Pediatr Endocrinol Rev        ISSN： 1565-4753


  111 in total

1.  Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.

Authors:  Emily G Farrow; Xijie Yu; Lelia J Summers; Siobhan I Davis; James C Fleet; Matthew R Allen; Alexander G Robling; Keith R Stayrook; Victoria Jideonwo; Martin J Magers; Holly J Garringer; Ruben Vidal; Rebecca J Chan; Charles B Goodwin; Siu L Hui; Munro Peacock; Kenneth E White
Journal:  Proc Natl Acad Sci U S A       Date:  2011-10-17       Impact factor: 11.205

2.  Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans.

Authors:  Erik A Imel; Munro Peacock; Amie K Gray; Leah R Padgett; Siu L Hui; Michael J Econs
Journal:  J Clin Endocrinol Metab       Date:  2011-08-31       Impact factor: 5.958

3.  Regulation of serum 1,25(OH)2 vitamin D3 levels by fibroblast growth factor 23 is mediated by FGF receptors 3 and 4.

Authors:  Jyothsna Gattineni; Katherine Twombley; Regina Goetz; Moosa Mohammadi; Michel Baum
Journal:  Am J Physiol Renal Physiol       Date:  2011-05-11

4.  Vitamin D receptor controls expression of the anti-aging klotho gene in mouse and human renal cells.

Authors:  Ryan E Forster; Peter W Jurutka; Jui-Cheng Hsieh; Carol A Haussler; Christine L Lowmiller; Ichiro Kaneko; Mark R Haussler; G Kerr Whitfield
Journal:  Biochem Biophys Res Commun       Date:  2011-10-01       Impact factor: 3.575

Review 5.  A clinician's guide to X-linked hypophosphatemia.

Authors:  Thomas O Carpenter; Erik A Imel; Ingrid A Holm; Suzanne M Jan de Beur; Karl L Insogna
Journal:  J Bone Miner Res       Date:  2011-05-02       Impact factor: 6.741

6.  Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.

Authors:  Marcos Morey; Lidia Castro-Feijóo; Jesús Barreiro; Paloma Cabanas; Manuel Pombo; Marta Gil; Ignacio Bernabeu; José M Díaz-Grande; Lourdes Rey-Cordo; Gema Ariceta; Itxaso Rica; José Nieto; Ramón Vilalta; Loreto Martorell; Jaime Vila-Cots; Fernando Aleixandre; Ana Fontalba; Leandro Soriano-Guillén; José M García-Sagredo; Sixto García-Miñaur; Berta Rodríguez; Saioa Juaristi; Carmen García-Pardos; Antonio Martínez-Peinado; José M Millán; Ana Medeira; Oana Moldovan; Angeles Fernandez; Lourdes Loidi
Journal:  BMC Med Genet       Date:  2011-09-08       Impact factor: 2.103

7.  Anti-FGF-23 neutralizing antibodies ameliorate muscle weakness and decreased spontaneous movement of Hyp mice.

Authors:  Yukiko Aono; Hisashi Hasegawa; Yuji Yamazaki; Takashi Shimada; Toshiro Fujita; Takeyoshi Yamashita; Seiji Fukumoto
Journal:  J Bone Miner Res       Date:  2011-04       Impact factor: 6.741

8.  High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH.

Authors:  Junko Miyamoto Igaki; Makoto Yamada; Yuji Yamazaki; Shinobu Koto; Masako Izawa; Daisuke Ariyasu; Eri Suzuki; Hisashi Hasegawa; Yukihiro Hasegawa
Journal:  Endocr J       Date:  2011-05-19       Impact factor: 2.349

9.  Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion.

Authors:  M Živičnjak; D Schnabel; H Staude; G Even; M Marx; R Beetz; M Holder; H Billing; D-C Fischer; W Rabl; M Schumacher; O Hiort; D Haffner
Journal:  J Clin Endocrinol Metab       Date:  2011-10-12       Impact factor: 5.958

10.  Calcitonin administration in X-linked hypophosphatemia.

Authors:  Eva S Liu; Thomas O Carpenter; Caren M Gundberg; Christine A Simpson; Karl L Insogna
Journal:  N Engl J Med       Date:  2011-04-28       Impact factor: 91.245
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  10 in total

Review 1.  [Diagnostics in osteology].

Authors:  F Jakob; F Genest; L Seefried; E Tsourdi; C Lapa; L C Hofbauer
Journal:  Internist (Berl)       Date:  2016-07       Impact factor: 0.743

2.  A rare cause of atraumatic fractures: case series of four patients with tumor-induced osteomalacia.

Authors:  Debbie W Chen; Gregory A Clines; Michael T Collins; Liselle Douyon; Palak U Choksi
Journal:  Clin Diabetes Endocrinol       Date:  2020-07-06

3.  X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.

Authors:  Badi Alenazi; M A Maleque Molla; Abdullah Alshaya; Mahmoud Saleh
Journal:  Sudan J Paediatr       Date:  2017

4.  Chiari malformation, syringomyelia and bulbar palsy in X linked hypophosphataemia.

Authors:  Laura Watts; Paul Wordsworth
Journal:  BMJ Case Rep       Date:  2015-11-11

Review 5.  The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.

Authors:  Stefano Stagi; Loredana Cavalli; Salvatore Seminara; Maurizio de Martino; Maria Luisa Brandi
Journal:  Ital J Pediatr       Date:  2014-06-07       Impact factor: 2.638

6.  Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia.

Authors:  Mary D Ruppe; Xiaoping Zhang; Erik A Imel; Thomas J Weber; Mark A Klausner; Takahiro Ito; Maria Vergeire; Jeffrey S Humphrey; Francis H Glorieux; Anthony A Portale; Karl Insogna; Munro Peacock; Thomas O Carpenter
Journal:  Bone Rep       Date:  2016-05-13

Review 7.  Dental-craniofacial manifestation and treatment of rare diseases.

Authors:  En Luo; Hanghang Liu; Qiucheng Zhao; Bing Shi; Qianming Chen
Journal:  Int J Oral Sci       Date:  2019-02-20       Impact factor: 6.344

8.  Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets.

Authors:  Ha Young Jo; Jung Hyun Shin; Hye Young Kim; Young Mi Kim; Heirim Lee; Mi Hye Bae; Kyung Hee Park; Ja-Hyun Jang; Min Jung Kwak
Journal:  Ann Pediatr Endocrinol Metab       Date:  2020-03-31

9.  Fibroblast Growth Factor 2 High Molecular Weight Isoforms in Dentoalveolar Mineralization.

Authors:  Grethel Millington; Johnny Joseph; Liping Xiao; Anushree Vijaykumar; Mina Mina; Marja M Hurley
Journal:  Calcif Tissue Int       Date:  2021-07-10       Impact factor: 4.333

Review 10.  Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review.

Authors:  S Giannini; M L Bianchi; D Rendina; P Massoletti; D Lazzerini; M L Brandi
Journal:  Osteoporos Int       Date:  2021-05-19       Impact factor: 4.507
  10 in total

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