Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees
-
Yukiyo Nabeshima
Abstract
Objectives
The role of serum fibroblast growth factor 23 (FGF23) level in early neonatal period on the diagnosis of X-linked hypophosphatemic rickets (XLH) remains unclear.
Case presentation
Two female patients from the first pedigree had an affected mother, and the other female from the second pedigree had an affected father. In all three cases, FGF23 levels were high in cord blood and peripheral blood at day 4-5. Additionally, the FGF23 levels considerably increased from birth to day 4-5. We identified a PHEX pathogenic variant and initiated treatment during infancy in each case.
Conclusions
In neonates with a parent diagnosed as PHEX-associated XLH, FGF23 in cord blood and peripheral blood at day 4-5 may be useful markers for predicting the presence of XLH.
Acknowledgments
We thank the patients and the patients’ family for participating in this study.
-
Research funding: This study was partly supported by Novo Nordisk Pharma Ltd. and JCR Pharmaceuticals Co., Ltd. Neither funding source participated in the design or conduct of the study.
-
Author contributions: Drs. Nabeshima, Sato, Amano, Ishii, and Hasegawa conceptualized and designed the study, collected data, carried out the analyses, drafted the initial manuscript, and reviewed and revised the manuscript. Drs. Zukeran, Komatsu, Nakano, Ichihashi, Tominaga, and Miwa conceptualized and designed the study, collected data, carried out the analyses, and critically reviewed the manuscript. All authors approved the final manuscript for submission and agree to be accountable for all aspects of the study.
-
Competing interests: Tomonobu Hasegawa has the following financial relationships to disclose: Research funding from Novo Nordisk Pharma Ltd. and JCR Pharmaceuticals Co., Ltd. The other authors declare no conflict of interest.
-
Informed consent: Written informed consent was obtained from each patient’s parents for publication of the details of their children and their own medical case and any accompanying images.
-
Ethical approval: This study has been complied with all the relevant national regulations, institutional policies and in accordance the tenets of the Helsinki Declaration and has been approved by the Institutional Review Board at Keio University School of Medicine (Institutional Review Board number 20150104 and 20170130) and Saitama City Hospital (Institutional Review Board number B0420).
References
1. Rothenbuhler, A, Schnabel, D, Högler, W, Linglart, A. Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH). Metabolism 2020;103S:153892. https://doi.org/10.1016/j.metabol.2019.03.009.Search in Google Scholar PubMed
2. Gaucher, C, Walrant-Debray, O, Nguyen, TM, Esterle, L, Garabédian, M, Jehan, F. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Hum Genet 2009;125:401–11. https://doi.org/10.1007/s00439-009-0631-z.Search in Google Scholar PubMed
3. Takaiwa, M, Aya, K, Miyai, T, Hasegawa, K, Yokoyama, M, Kondo, Y, et al.. Fibroblast growth factor 23 concentrations in healthy term infants during the early postpartum period. Bone 2010;47:256–62. https://doi.org/10.1016/j.bone.2010.05.024.Search in Google Scholar PubMed
4. Francis, F, Strom, TM, Hennig, S, Böddrich, A, Lorenz, B, Brandau, O, et al.. Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res 1997;7:573–85. https://doi.org/10.1101/gr.7.6.573.Search in Google Scholar PubMed
5. Ma, Y, Samaraweera, M, Cooke-Hubley, S, Kirby, BJ, Karaplis, AC, Lanske, B, et al.. Neither absence nor excess of FGF23 disturbs murine fetal-placental phosphorus homeostasis or prenatal skeletal development and mineralization. Endocrinology 2014;155:1596–605. https://doi.org/10.1210/en.2013-2061.Search in Google Scholar PubMed PubMed Central
6. Igaki, JM, Yamada, M, Yamazaki, Y, Koto, S, Izawa, M, Ariyasu, D, et al.. High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH. Endocr J 2011;58:647–55. https://doi.org/10.1507/endocrj.k10e-257.Search in Google Scholar PubMed
7. Ali, FN, Josefson, J, Mendez, AJ, Mestan, K, Wolf, M. Cord blood ferritin and fibroblast growth factor-23 levels in neonates. J Clin Endocrinol Metab 2016;101:1673–9. https://doi.org/10.1210/jc.2015-3709.Search in Google Scholar PubMed PubMed Central
8. Ohata, Y, Yamazaki, M, Kawai, M, Tsugawa, N, Tachikawa, K, Koinuma, T, et al.. Elevated fibroblast growth factor 23 exerts its effects on placenta and regulates vitamin D metabolism in pregnancy of Hyp mice. J Bone Min Res 2014;29:1627–38. https://doi.org/10.1002/jbmr.2186.Search in Google Scholar PubMed
9. Lorenz-Depiereux, B, Schnabel, D, Tiosano, D, Häusler, G, Strom, TM. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 2010;86:267–72. https://doi.org/10.1016/j.ajhg.2010.01.006.Search in Google Scholar PubMed PubMed Central
© 2023 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Original Articles
- Metabolic risk factors in prepubertal and pubertal patients with overweight and obesity
- Blood pressure in girls with central precocious puberty receiving GnRH analogue therapy
- Norethindrone dosing for adequate menstrual suppression in adolescents
- Apparent diffusion coefficient (ADC) measurements and morphometric evaluation of the cranium in age-matched children with central precocious puberty
- Characteristics of vitamin D deficiency hypocalcemia inpatient admissions at a single tertiary center
- Early pregnancy exposure of maternal triglyceride levels and its effects on birth weight
- Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
- Congenital hypothyroidism in Bogotá, Colombia: a current description (2015–2021)
- Case Reports
- Case report: mitochondrial diabetes mellitus in a Chinese family due to m.3243A>G
- Novel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli–Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation
- Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees
- A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency
- The benefit of rhGH therapy in a Chinese child with 12q14 microdeletion syndrome: a case report
- Adjustment of octreotide dose given via insulin pump based on continuous glucose monitoring (CGM) in a child with congenital hyperinsulinism
Articles in the same Issue
- Frontmatter
- Original Articles
- Metabolic risk factors in prepubertal and pubertal patients with overweight and obesity
- Blood pressure in girls with central precocious puberty receiving GnRH analogue therapy
- Norethindrone dosing for adequate menstrual suppression in adolescents
- Apparent diffusion coefficient (ADC) measurements and morphometric evaluation of the cranium in age-matched children with central precocious puberty
- Characteristics of vitamin D deficiency hypocalcemia inpatient admissions at a single tertiary center
- Early pregnancy exposure of maternal triglyceride levels and its effects on birth weight
- Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
- Congenital hypothyroidism in Bogotá, Colombia: a current description (2015–2021)
- Case Reports
- Case report: mitochondrial diabetes mellitus in a Chinese family due to m.3243A>G
- Novel pathogenic variant of DICER1 in an adolescent with multinodular goiter, ovarian Sertoli–Leydig cell tumor and pineal parenchymal tumor of intermediate differentiation
- Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees
- A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency
- The benefit of rhGH therapy in a Chinese child with 12q14 microdeletion syndrome: a case report
- Adjustment of octreotide dose given via insulin pump based on continuous glucose monitoring (CGM) in a child with congenital hyperinsulinism
