Journal article
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia
C Gagnon, NA Sims, S Mumm, SA McAuley, C Jung, IJ Poulton, KW Ng, PR Ebeling
Journal of Clinical Endocrinology and Metabolism | Published : 2010
DOI: 10.1210/jc.2009-1965
Abstract
Introduction: Hypophosphatasia (HPP) is a rare genetic disorder characterized by low serum alkaline phosphatase (ALP) and defective bone mineralization predisposing to poorly healing pseudofractures and fractures. Experience with teriparatide in HPP is limited. Methods: A 53-yr-old woman was diagnosed with HPP on the basis of repeatedly low serum ALP (6-8 IU/liter; normal, 30-120 IU/liter), high urine phosphoethanolamine (PEA) and serum pyridoxal 5′-phosphate (PLP) concentrations, and pseudofractures on the lateral aspect of both proximal femurs. Teriparatide (20 μg/d sc) was initiated 4 months after surgery for a painful nonhealing left femoral fracture sustained after minimal trauma. Resul..
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Funding Acknowledgements
This work was supported by the Australian National Health and Medical Research Council (NHMRC) Program Grant 345401 (to N.A.S. and K.W.N.). N.A.S. is supported by a NHMRC (Australia) Senior Research Fellowship. C. G. is supported by a scholarship from Universite Laval, Quebec, Canada.