1. Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency
- Author
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Thomas O. Carpenter, Björn Busse, Dillon Kavanagh, Simon von Kroge, Paul R. Stabach, Demetrios T. Braddock, Mark C. Horowitz, Thorsten Schinke, Nathan D. Maulding, Michael Amling, Kristin Zimmerman, Ralf Oheim, Uwe Kornak, Steven M. Tommasini, Julian Stürznickel, and David B. Thompson
- Subjects
Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,ARHR2 ,Osteoporosis ,030209 endocrinology & metabolism ,OSTEOPOROSIS ,Generalized arterial calcification ,Mice ,03 medical and health sciences ,0302 clinical medicine ,FGF23 ,Internal medicine ,medicine ,Animals ,Humans ,Orthopedics and Sports Medicine ,Pyrophosphatases ,Bone mineral ,Osteomalacia ,Phosphoric Diester Hydrolases ,business.industry ,DISORDERS OF CALCIUM/PHOSPHATE METABOLISM ,Original Articles ,medicine.disease ,Phenotype ,Fibroblast Growth Factors ,Osteopenia ,Fibroblast Growth Factor-23 ,OSTEOMALACIA AND RICKETS ,030104 developmental biology ,Endocrinology ,medicine.anatomical_structure ,Original Article ,Cortical bone ,Familial Hypophosphatemic Rickets ,GACI ,business ,Hypophosphatemia - Abstract
Biallelic ENPP1 deficiency in humans induces generalized arterial calcification of infancy (GACI) and/or autosomal recessive hypophosphatemic rickets type 2 (ARHR2). The latter is characterized by markedly increased circulating FGF23 levels and renal phosphate wasting, but aberrant skeletal manifestations associated with heterozygous ENPP1 deficiency are unknown. Here, we report three adult men with early onset osteoporosis who presented with fractures in the thoracic spine and/or left radius, mildly elevated circulating FGF23, and hypophosphatemia. Total hip bone mineral density scans demonstrated osteoporosis (Z‐score
- Published
- 2019
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