Clinical Variability of Hypophosphatasia in Colombian Patients: Case Reports

Ana Maria Zarante Bahamon, Juan Carlos Prieto Rivera, Jorge Rojas, Vladimir Gonzalez Lopez, Victor Vargas, Melissa Rosero Arevalo


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


Short stature; Skeletal deformities; Alkaline phosphatase; Mutation; Hypomineralization

Full Text: HTML PDF

Browse  Journals  


Journal of Clinical Medicine Research

Journal of Endocrinology and Metabolism

Journal of Clinical Gynecology and Obstetrics


World Journal of Oncology

Gastroenterology Research

Journal of Hematology


Journal of Medical Cases

Journal of Current Surgery

Clinical Infection and Immunity


Cardiology Research

World Journal of Nephrology and Urology

Cellular and Molecular Medicine Research


Journal of Neurology Research

International Journal of Clinical Pediatrics



Journal of Endocrinology and Metabolism, bimonthly, ISSN 1923-2861 (print), 1923-287X (online), published by Elmer Press Inc.                     
The content of this site is intended for health care professionals.
This is an open-access journal distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License, which permits unrestricted
non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Creative Commons Attribution license (Attribution-NonCommercial 4.0 International CC-BY-NC 4.0)

This journal follows the International Committee of Medical Journal Editors (ICMJE) recommendations for manuscripts submitted to biomedical journals,
the Committee on Publication Ethics (COPE) guidelines, and the Principles of Transparency and Best Practice in Scholarly Publishing.

website:   editorial contact:
Address: 9225 Leslie Street, Suite 201, Richmond Hill, Ontario, L4B 3H6, Canada

© Elmer Press Inc. All Rights Reserved.

Disclaimer: The views and opinions expressed in the published articles are those of the authors and do not necessarily reflect the views or opinions of the editors and Elmer Press Inc. This website is provided for medical research and informational purposes only and does not constitute any medical advice or professional services. The information provided in this journal should not be used for diagnosis and treatment, those seeking medical advice should always consult with a licensed physician.