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      X-linked hypophosphatemic rickets: from diagnosis to management

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      Author(s): , MD, PhD 1 , , MD, PhD 2 , 3 , 4 , 5
      Publication date (Electronic):
      Journal: Clinical and Experimental Pediatrics
      Publisher: Korean Pediatric Society
      Keywords: Rickets, Hypophosphatemia, X-linked hypophosphatemia

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          Abstract

          X-linked hypophosphatemia (XLH), the most common cause of hypophosphatemic rickets, affects one in every 20,000 people. Although conventional therapy for XLH was introduced approximately 4 decades ago, the temporary replacement of oral phosphate salts and activated vitamin D cannot completely control chronic hypophosphatemia, leaving patients with incomplete healing and residual skeletal deformity as well as at risk of endocrine abnormalities and adverse drug reactions. However, understanding the pathophysiology has led to the development of a targeted therapy, burosumab, a fibroblast growth factor-23 inhibitor that was recently approved in Korea for the treatment of XLH. This review provides insight into the diagnosis, evaluation, treatment, and recommended follow-up for a typical case of XLH and reviews its pathophysiology.

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          Most cited references61

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          FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis.

          Takashi Shimada, Hisashi Hasegawa, Yuji Yamazaki … (2004)
          We analyzed the effects of an FGF-23 injection in vivo. FGF-23 caused a reduction in serum 1,25-dihydroxyvitamin D by altering the expressions of key enzymes for the vitamin D metabolism followed by hypophosphatemia. This study indicates that FGF-23 is a potent regulator of the vitamin D and phosphate metabolism. The pathophysiological contribution of FGF-23 in hypophosphatemic diseases was supported by animal studies in which the long-term administration of recombinant fibroblast growth factor-23 reproduced hypophosphatemic rickets with a low serum 1,25-dihydroxyvitamin D [1,25(OH)2D] level. However, there is no clear understanding of how FGF-23 causes these changes. To elucidate the molecular mechanisms of the FGF-23 function, we investigated the short-term effects of a single administration of recombinant FGF-23 in normal and parathyroidectmized animals. An injection of recombinant FGF-23 caused a reduction in serum phosphate and 1,25(OH)2D levels. A decrease in serum phosphate was first observed 9 h after the injection and was accompanied with a reduction in renal mRNA and protein levels for the type IIa sodium-phosphate cotransporter (NaPi-2a). There was no increase in the parathyroid hormone (PTH) level throughout the experiment, and hypophosphatemia was reproduced by FGF-23 in parathyroidectomized rats. Before this hypophosphatemic effect, the serum 1,25(OH)2D level had already descended at 3 h and reached the nadir 9 h after the administration. FGF-23 reduced renal mRNA for 25-hydroxyvitamin D-1alpha-hydroxylase and increased that for 25-hydroxyvitamin D-24-hydroxylase starting at 1 h. In addition, an injection of calcitriol into normal mice increased the serum FGF-23 level within 4 h. FGF-23 regulates NaPi-2a independently of PTH and the serum 1,25(OH)2D level by controlling renal expressions of key enzymes of the vitamin D metabolism. In conclusion, FGF-23 is a potent regulator of phosphate and vitamin D homeostasis.
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            A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium.

            J Murken, H Lehrach, S. Pannetier … (1995)
            X-linked hypophosphatemic rickets (HYP) is a dominant disorder characterised by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. By positional cloning, we have isolated a candidate gene from the HYP region in Xp22.1. This gene exhibits homology to a family of endopeptidase genes, members of which are involved in the degradation or activation of a variety of peptide hormones. This gene (which we have called PEX) is composed of multiple exons which span at least five cosmids. Intragenic non-overlapping deletions from four different families and three mutations (two splice sites and one frameshift) have been detected in HYP patients, which suggest that the PEX gene is involved in the HYP disorder.
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              Burosumab Therapy in Children with X-Linked Hypophosphatemia

              Emil Kakkis, Javier San Martín, Anthony Portale … (2018)
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                Author and article information

                Journal
                Journal ID (nlm-ta): Clin Exp Pediatr
                Journal ID (iso-abbrev): Clin Exp Pediatr
                Journal ID (publisher-id): CEP
                Title: Clinical and Experimental Pediatrics
                Publisher: Korean Pediatric Society
                ISSN (Electronic): 2713-4148
                Publication date Collection: January 2024
                Publication date (Electronic): 14 June 2023
                Volume: 67
                Issue: 1
                Pages: 17-25
                Affiliations
                [1 ]Department of Pediatrics, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Korea
                [2 ]Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
                [3 ]Departments of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea
                [4 ]Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea
                [5 ]Wide River Institute of Immunology, Seoul National University, Hongcheon, Korea
                Author notes
                Corresponding author: Hee Gyung Kang, MD, PhD. Department of Pediatrics, Seoul National University Children’s Hospital, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea Email: kanghg@ 123456snu.ac.kr , kanghg1@ 123456gmail.com
                Author information
                http://orcid.org/0000-0002-4413-468X
                http://orcid.org/0000-0001-8323-5320
                Article
                Publisher ID: cep-2022-01459
                DOI: 10.3345/cep.2022.01459
                PMC ID: 10764665
                PubMed ID: 37321578
                SO-VID: ca03ee7f-ae32-4e39-9ef7-e4e9a16bcd4b
                Copyright © Copyright © 2024 by The Korean Pediatric Society
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 18 December 2022
                Date revision received : 2 February 2023
                Date accepted : 28 March 2023
                Categories
                Subject: Review Article
                Subject: Nephrology (Genitourinary)

                Keywords: rickets,hypophosphatemia,x-linked hypophosphatemia
                Data availability:
                Keywords: rickets, hypophosphatemia, x-linked hypophosphatemia

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