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03-02-2024 | Hypophosphatemic Rickets | Lessons for the Clinical Nephrologist

The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience

Authors: Mattia Parolin, Nicola Bertazza Partigiani, Elisa Benetti, Germana Longo, Enrico Vidal

Excerpt

A healthy White 4-year-old girl was referred to our center with severe bow legs. No history of lower limb trauma or deformity was reported by the relatives. …

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Küng CJ, Haykir B, Schnitzbauer U, Egli-Spichtig D, Hernando N, Wagner CA (2021) Fibroblast growth factor 23 leads to endolysosomal routing of the renal phosphate cotransporters NaPi-IIa and NaPi-IIc in vivo. Am J Physiol Renal Physiol 321(6):F785–F798. https://doi.org/10.1152/ajprenal.00250.2021CrossRefPubMed

Höppner J, Kornak U, Sinningen K, Rutsch F, Oheim R, Grasemann C (2021) Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency. Bone 153:116111. https://doi.org/10.1016/j.bone.2021.116111CrossRefPubMed

Carpenter TO, Whyte MP, Imel EA, Boot AM, Högler W, Linglart A, Padidela R, Van’t Hoff W, Mao M, Chen CY, Skrinar A, Kakkis E, San Martin J, Portale AA (2018) Burosumab therapy in children with X-linked hypophosphatemia. N Engl J Med 378(21):1987–1998. https://doi.org/10.1056/NEJMoa1714641CrossRefPubMed

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Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley IR, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal MZ, Levine MA, Gafni RI, Gahl WA (2021) Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Genet Med 23(2):396–407. https://doi.org/10.1038/s41436-020-00983-0CrossRefPubMed

Mehta P, Mitchell A, Tysoe C, Caswell R, Owens M, Vincent T (2012) Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification. Rheumatology (Oxford) 51(10):1919–1921. https://doi.org/10.1093/rheumatology/kes089CrossRefPubMed

Stern R, Levi DS, Gales B, Rutsch F et al (2021) Correspondence on “Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)” by Ferreira et al. Genet Med 23(10):2006–2007. https://doi.org/10.1038/s41436-021-01228-4CrossRefPubMed

Title: The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience
Authors: Mattia Parolin
Nicola Bertazza Partigiani
Elisa Benetti
Germana Longo
Enrico Vidal
Publication date: 03-02-2024
Publisher: Springer International Publishing
Keywords: Hypophosphatemic Rickets
Rickets
Published in: Journal of Nephrology
Print ISSN: 1121-8428
Electronic ISSN: 1724-6059
DOI: https://doi.org/10.1007/s40620-023-01884-6

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At a glance: The STEP trials