Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment
- 1 August 2020
- journal article
- review article
- Published by Springer Science and Business Media LLC in Osteoporosis International
- Vol. 31 (8), 1445-1460
- https://doi.org/10.1007/s00198-020-05345-9
Abstract
This article provides an overview of the current knowledge on hypophosphatasia-a rare genetic disease of very variable presentation and severity-with a special focus on adolescents and adults. It summarizes the available information on the many known mutations of tissue-nonspecific alkaline phosphatase (TNSALP), the epidemiology and clinical presentation of the disease in adolescents and adults, and the essential diagnostic clues. The last section reviews the therapeutic approaches, including recent reports on enzyme replacement therapy (EnzRT).This publication has 80 references indexed in Scilit:
- Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancyJournal of Bone and Mineral Research, 2012
- Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral densityJournal of Bone and Mineral Research, 2011
- Clinical utility gene card for: hypophosphatasiaEuropean Journal of Human Genetics, 2010
- Chronic Recurrent Multifocal Osteomyelitis Mimicked in Childhood HypophosphatasiaJournal of Bone and Mineral Research, 2009
- Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate allelesBMC Medical Genetics, 2009
- TNF-α and IL-1β inhibit RUNX2 and collagen expression but increase alkaline phosphatase activity and mineralization in human mesenchymal stem cellsLife Sciences, 2009
- A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type proteinHuman Genetics, 2008
- HypophosphatasiaOrphanet Journal of Rare Diseases, 2007
- Hypophosphatasia and the Extracellular Metabolism of Inorganic Pyrophosphate: Clinical and Laboratory Aspects: Part ICritical Reviews in Clinical Laboratory Sciences, 1991
- Histologic and ultrastructural studies on the mineralization process in hypophosphatasiaAmerican Journal of Medical Genetics, 1985