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What is Pediatric bone and mineral working group abstracts WG7–WG11 about?

Hypophosphatasia (HPP), an inborn-error-of-metabolism characterized biochemically by subnormal serum levels of alkaline phosphatase (ALP), is caused by deactivating mutations in the gene which encodes the tissue-nonspecific ALP isoenzyme (TNSALP). Radiographs in "childhood" HPP typically show rickets, including "tongues" of lucency that project from physes into metaphyses in major long bones and sometimes, areas of metaphyseal osteosclerosis. Yet children with the most mild form, odontoHPP, have no skeletal radiographic abnormalities and seek medical attention for early tooth loss. Purpose: To define the prevalence of joint and bone pain with various pediatric forms of HPP and to highlight two patients with presentations mimicking chronic recurrent multifocal osteomyelitis (CRMO). Methods: We reviewed 111 HPP patient charts. Nearly all have completed molecular diagnoses. 11 had infantile HPP, 64 had childhood HPP, and 36 had odontoHPP. Patients with complex phenotypes (ie. more than one disease),a marrow transplant recipient, and patients less than 2.5 years at last evaluation were excluded. Results: Among patients who met inclusion criteria: Significant joint and skeletal pain tro

Who reads Pediatric bone and mineral working group abstracts WG7–WG11?

Publisher

American Society for Bone and Mineral Research; Wiley (John Wiley & Sons); Wiley-Blackwell; Wiley (ISSN 0884-0431)

Published

2004

Language

EN

Field

Medicine (Health Sciences)