Nationwide Turkish Cohort Study of Hypophosphatemic Rickets

Journal of Clinical Research in Pediatric Endocrinology
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Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly causedby PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options.Methods: Here we present nationwide initial and follow-up data on HR.Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n=75) showed PHEX mutation in 80% of patients.The mean follow-up period was 6.7±2.4 years. During the first 3-years of treatment (n=91), mild increase in phosphate, decrease inalkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38,-2.77, -2.72, -2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p>0.05). On follow-up 36% of the patients showed completeor significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1stand 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis(NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year PTH was higher. However,higher treatment doses of phosphate and calcitriol were found in the NC group.Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC withoutany change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulationof fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapiesare needed.


19.11.2020
26.12.2024
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1. Lambert AS, Zhukouskaya V, Rothenbuhler A, Linglart A. X-linked hypophosphatemia: Management and treatment prospects. Joint Bone Spine 2019;86:731-738. Epub 2019 Jan 31

2. Beck-Nielsen SS, Mughal Z, Haffner D, Nilsson O, Levtchenko E, Ariceta G, de Lucas Collantes C, Schnabel D, Jandhyala R, Mäkitie O. FGF23 and its role in X-linked hypophosphatemia-related morbidity. Orphanet J Rare Dis 2019;14:58.

3. Bitzan M, Goodyer PR. Hypophosphatemic Rickets. Pediatr Clin North Am 2019;66:179-207.

4. Linglart A, Biosse-Duplan M, Briot K, Chaussain C, Esterle L, GuillaumeCzitrom S, Kamenicky P, Nevoux J, Prié D, Rothenbuhler A, Wicart P, Harvengt P. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect 2014;3:13-30.

5. Christov M, Jüppner H. Phosphate homeostasis disorders. Best Pract Res Clin Endocrinol Metab 2018;32:685-706. Epub 2018 Jun 18

6. Kinoshita Y, Fukumoto S. X-Linked Hypophosphatemia and FGF23- Related Hypophosphatemic Diseases: Prospect for New Treatment. Endocr Rev 2018;39:274-291.

7. Guven A, Al-Rijjal RA, BinEssa HA, Dogan D, Kor Y, Zou M, Kaya N, Alenezi AF, Hancili S, Tarım Ö, Baitei EY, Kattan WE, Meyer BF, Shi Y. Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets. Clin Endocrinol (Oxf) 2017;87:103-112. Epub 2017 May 11

8. Acar S, BinEssa HA, Demir K, Al-Rijjal RA, Zou M, Çatli G, Anık A, Al-Enezi AF, Özışık S, Al-Faham MSA, Abacı A, Dündar B, Kattan WE, Alsagob M, Kavukçu S, Tamimi HE, Meyer BF, Böber E, Shi Y. Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. PLoS One 2018;13:e0193388.

9. Turan S, Topcu B, Gökçe İ, Güran T, Atay Z, Omar A, Akçay T, Bereket A. Serum alkaline phosphatase levels in healthy children and evaluation of alkaline phosphatase z- scores in different types of rickets. J Clin Res Pediatr Endocrinol 2011;3:7-11. Epub 2011 Feb 23

10. Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol 2016;174:125-136. Epub 2015 Nov 5

11. 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;103:153892. Epub 2019 Mar 27

12. Fuente R, Gil-Peña H, Claramunt-Taberner D, Hernández O, Fernández-Iglesias A, Alonso-Durán L, Rodríguez-Rubio E, Santos F. X-linked hypophosphatemia and growth. Rev Endocr Metab Disord 2017;18:107-115.

13. Acar S, Demir K, Shi Y. Genetic Causes of Rickets. J Clin Res Pediatr Endocrinol 2017;9(Suppl 2):88-105.

14. Goldsweig BK, Carpenter TO. Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. Curr Osteoporos Rep 2015;13:88-97.

15. Turan S, Aydin C, Bereket A, Akcay T, Güran T, Yaralioglu BA, Bastepe M, Jüppner H. Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia. Bone 2010;46:402-409. Epub 2009 Sep 29

16. Lambert AS, Zhukouskaya V, Rothenbuhler A, Linglart A. X-linked hypophosphatemia: Management and treatment prospects. Joint Bone Spine 2019;86:731-738. Epub 2019 Jan 31

17. Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol 2019;15:435-455.

18. Verge CF, Lam A, Simpson JM, Cowell CT, Howard NJ, Silink M. Effects of therapy in X-linked hypophosphatemic rickets. N Engl J Med 1991;325:1843-1848.

19. Seikaly MG, Browne RH, Baum M. The effect of phosphate supplementation on linear growth in children with X-linked hypophosphatemia. Pediatrics 1994;94:478-481.

20. Živičnjak M, Schnabel D, Staude H, Even G, Marx M, Beetz R, Holder M, Billing H, Fischer DC, Rabl W, Schumacher M, Hiort O, Haffner D; Hypophosphatemic Rickets Study Group of the Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie. Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion. J Clin Endocrinol Metab 2011;96:2097-2105. Epub 2011 Oct 12
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