Hermann Josef Girschick1, Imme Haubitz, Olaf Hiort, Peter Schneider. 1. Children's Hospital, Section of pediatric rheumatology and osteology, Universitäts-Kinderklinik, University of Würzburg, Josef-Schneider-Strasse 2, Würzburg 97080, Germany. hermann.girschick@mail.uni-wuerzburg.de
Abstract
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 4years 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.
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 4years 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.
Authors: T Schmidt; H Mussawy; T Rolvien; T Hawellek; J Hubert; W Rüther; M Amling; F Barvencik Journal: Osteoporos Int Date: 2017-05-25 Impact factor: 4.507
Authors: Jin Liu; Cassie Campbell; Hwa Kyung Nam; Alexandre Caron; Manisha C Yadav; José Luis Millán; Nan E Hatch Journal: Bone Date: 2015-05-08 Impact factor: 4.398