Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.

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Abstract

[Indexed for MEDLINE] 3. Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):455-476. doi: 10.1016/j.beem.2018.05.009. Epub 2018 Jul 4. Hypocalcaemic and hypophosphatemic rickets. Lambert AS(1), Linglart A(2). Author information: (1)APHP, Department of Pediatric Endocrinology and Diabetology for Children, Bicêtre Paris-Sud, Le Kremlin-Bicêtre, France; APHP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Filière OSCAR and Plateforme D'Expertise Maladies Rares Paris-Sud, Bicêtre Paris-Sud, Le Kremlin Bicêtre, France. Electronic address: anne-sophie.lambert@aphp.fr. (2)APHP, Department of Pediatric Endocrinology and Diabetology for Children, Bicêtre Paris-Sud, Le Kremlin-Bicêtre, France; APHP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Filière OSCAR and Plateforme D'Expertise Maladies Rares Paris-Sud, Bicêtre Paris-Sud, Le Kremlin Bicêtre, France. Rickets refers to deficient mineralization at the growth plate and is usually associated with abnormal serum calcium and/or phosphate. There are several subtypes of rickets, including hypophosphatemic rickets (vitamin-D-resistant rickets secondary to renal phosphate wasting), vitamin D-dependent rickets (defects of vitamin D metabolism) and nutritional rickets (caused by dietary deficiency of vitamin D, and/or calcium, and/or phosphate). Most rickets manifest as bone deformities, bone pain, and impaired growth velocity. Diagnosis of rickets is established through the medical history, physical examination, biochemical tests and radiographs. It is of crucial importance to determine the cause of rickets, including the molecular characterization in case of vitamin D resistant rickets, and initiate rapidly the appropriate therapy. In this review, we describe the different causes and therapies of genetic and nutritional rickets, supported by the recent progress in genetics and development of novel molecules such as anti-FGF23 antibody. Copyright © 2018 Elsevier Ltd. All rights reserved. DOI: 10.1016/j.beem.2018.05.009