van Buchem disease

(redirected from chronic hyperphosphatemia)

van Buchem disease

An autosomal recessive condition (OMIM:239100) characterised by hyperostosis of the skull, mandible, clavicles, ribs and diaphyseal cortices of long bones, as well as a massively enlarged jaw and thickened skull, leading to facial nerve palsy, hearing loss and optic atrophy.

Molecular pathology
van Buchem disease is caused by a genomic deletion of a long-range bone enhancer on chromosome 17q12-q21, which misregulates sclerostin.
References in periodicals archive ?
Chronic hyperphosphatemia may lead to renal dystrophic calcification, secondary hyperparathyroidism, osteitis fibrosa, and metastatic calcification (3).
Chronic hyperphosphatemia is associated with serious health risks including renal osteodystrophy (resulting in bone pain, brittle bones, skeletal deformities and fractures), and heart failure caused by cardiovascular calcification.
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