Laboratory assessment of nutritional metabolic bone disease in infants

Objectives: There are numerous laboratory investigations available for the assessment of an infant with suspected metabolic bone disease (MBD); thus, comprehensive laboratory investigations on every aspect of MBD would impose unnecessary stress to the infant and the costs involved would be prohibitive. An overview of the assessment of an infant with suspected MBD, in particular, nutrition-related bone disease, is presented. Our objectives include an understanding of: 1. the importance of appropriate information from history and physical examination to guide the laboratory investigations; 2. relevance and limitations of specific laboratory investigations: a. radiologic studies include diagnostic radiographs and quantitative bone mass determination by dual energy x-ray absorptiometry, b. biochemical measurements to determine mineral homeostasis and bone turnover, c. vitamin (vitamin D metabolites) and hormonal (parathyroid hormone and calcitonin) measurements; with respect to diagnosis and monitoring of the natural progress or response to therapy. Conclusion: Relevant information from clinical history and physical examination, and an understanding of the role and limitations of various laboratory investigations, would allow the optimal utilization of laboratory tests in the assessment of an infant with MBD.