Clinical Variability of Hypophosphatasia in Colombian Patients: Case Reports

Abstract

Hypophosphatasia (HPP) is a rare inherited disorder characterized by low serum alkaline phosphatase. It affects bone and tooth mineralization, although extra-skeletal manifestations are frequent. HPP is caused by loss-of-function mutations in the ALPL gene, encoding the protein tissue-nonspecific alkaline phosphatase. The phenotype is broadly variable, from a subtype with exclusive odontological compromise (odontohypophosphatasia) to five subtypes with systemic involvement, classified according to the age of onset at first symptoms. We present seven cases of HPP, in order to perform the clinical, biochemistry and radiological description of these Colombian patients, as well as to show the clinical variability of the disease in patients who present the same mutation or genetic defect.

J Endocrinol Metab. 2021;11(2):56-64
doi: https://doi.org/10.14740/jem711