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Article

X-linked hypophosphataemic rickets: Report of a novel PHEX mutation and cinacalcet as adjuvant therapy in the mineral metabolism control.

Modern rheumatology case reports - 7 Jan 2022

Cavaco Daniela, Amaro Pedro, Simões-Pereira Joana, Pereira Maria Conceição

Abstract excerpt

X-linked hypophosphataemic rickets (XLH) is a rare disease caused by a mutation in the phosphate-regulating neutral endopeptidase (PHEX) gene, located on the X chromosome. This gene encodes the phosphate-regulating endopeptidase, and its inactivation leads to increased levels of circulating phosphatonins responsible for renal phosphate loss. The treatment for XLH is still carried out with long-term administration...

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PMID: 34561702
DOI: 10.1093/mrcr/rxab031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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