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Article

Expanding the Autosomal Recessive Hypophosphatemic Rickets Type I Carrier Phenotype and Adult Treatment with Burosumab.

Calcified tissue international - 13 Mar 2026

Sawalha Noor Alhuda, Sampaio Marcos Loreto, Liu Dora, Rauch Frank, Siminoski Kerry, Bonewald Lynda, Ward Leanne M

Abstract excerpt

Autosomal recessive hypophosphatemic rickets type 1 (ARHR1) is a rare, inherited cause of fibroblast growth factor 23 (FGF23)-mediated renal phosphate-wasting that results from homozygous inactivating pathogenic variants in the dentin matrix acidic phosphoprotein-1 (DMP1) gene. A variable clinical spectrum has been described in this condition, including features of rickets (in children), hyperostotic osteomalacia...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41820620
DOI: 10.1007/s00223-026-01490-1

Genes

DMP1
FGF23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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