Long-term follow-up of bone mineral density in childhood hypophosphatasia

Hermann Josef Girschick*, Imme Haubitz, Olaf Hiort, Peter Schneider

*Corresponding author for this work
20 Citations (Scopus)


Objective: Hypophosphatasia (HP; MIM 241510) is an inborn error of bone metabolism, characterized by a genetic defect in the gene of the tissue-non-specific alkaline phosphatase TNSALP. Long-term data on bone mineral density measurements are not available. Methods: We have analyzed changes of bone mineral density (pQCT and DXA) prospectively during 4 years of follow-up in a cohort of 6 patients with childhood HP. Results: At diagnosis hypermineralization of the trabecular bone in the metaphyseal area of long bones in affected children was noted. During 4 years of follow-up a gradual, significant decrease of mineralization was noted in the radial metaphyses. In contrast, BMC by DXA and total body DXA values were stable in comparison to healthy controls. During follow-up a systemic hyperprostaglandinism was documented in the majority of the patients. Non-steroidal anti-inflammatory drug treatment was evaluated by measuring prostaglandin excretion in the urine. Conclusions: Metaphyseal hypermineralization in childhood HP, which might be a compensation for a mechanically incompetent bony structure, decreased over time. There might be a pathophysiological link to continually elevated systemic prostaglandins.

Original languageEnglish
JournalJoint Bone Spine
Issue number3
Pages (from-to)263-269
Number of pages7
Publication statusPublished - 05.2007

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)


Dive into the research topics of 'Long-term follow-up of bone mineral density in childhood hypophosphatasia'. Together they form a unique fingerprint.

Cite this