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Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report

Hypophosphatasia (HPP) is a rare genetic condition that can manifest from the prenatal period to adulthood. Clinical presentation is characterized by six major forms. HPP can be complex and debilitating. A two-year-old male with a past medical history of HPP presented to our emergency room with a no...

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Autores principales: Qubain, Leeann, Smith, Pamela, Vij, Neeraj, Belthur, Mohan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235917/
https://www.ncbi.nlm.nih.gov/pubmed/35769684
http://dx.doi.org/10.7759/cureus.25426
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author Qubain, Leeann
Smith, Pamela
Vij, Neeraj
Belthur, Mohan
author_facet Qubain, Leeann
Smith, Pamela
Vij, Neeraj
Belthur, Mohan
author_sort Qubain, Leeann
collection PubMed
description Hypophosphatasia (HPP) is a rare genetic condition that can manifest from the prenatal period to adulthood. Clinical presentation is characterized by six major forms. HPP can be complex and debilitating. A two-year-old male with a past medical history of HPP presented to our emergency room with a non-displaced supracondylar fracture after minor trauma. Non-accidental trauma was considered in addition to inadequate medical control of his HPP. He was referred to our multidisciplinary clinic and asfotase alfa was increased to an appropriate dose. A multidisciplinary approach is the standard of care for the management of children with HPP, allowing for routine evaluation by tertiary specialists. This includes medication dosing surveillance with serum studies and imaging. Enzyme replacement therapy, appropriately dosed by considering weight and laboratory values, may reduce orthopedic complications. A multidisciplinary team's surveillance of patients with HPP ensures proper medication management, decreases the likelihood of bony injury and encourages continued patient follow-up.
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spelling pubmed-92359172022-06-28 Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report Qubain, Leeann Smith, Pamela Vij, Neeraj Belthur, Mohan Cureus Endocrinology/Diabetes/Metabolism Hypophosphatasia (HPP) is a rare genetic condition that can manifest from the prenatal period to adulthood. Clinical presentation is characterized by six major forms. HPP can be complex and debilitating. A two-year-old male with a past medical history of HPP presented to our emergency room with a non-displaced supracondylar fracture after minor trauma. Non-accidental trauma was considered in addition to inadequate medical control of his HPP. He was referred to our multidisciplinary clinic and asfotase alfa was increased to an appropriate dose. A multidisciplinary approach is the standard of care for the management of children with HPP, allowing for routine evaluation by tertiary specialists. This includes medication dosing surveillance with serum studies and imaging. Enzyme replacement therapy, appropriately dosed by considering weight and laboratory values, may reduce orthopedic complications. A multidisciplinary team's surveillance of patients with HPP ensures proper medication management, decreases the likelihood of bony injury and encourages continued patient follow-up. Cureus 2022-05-28 /pmc/articles/PMC9235917/ /pubmed/35769684 http://dx.doi.org/10.7759/cureus.25426 Text en Copyright © 2022, Qubain et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Endocrinology/Diabetes/Metabolism
Qubain, Leeann
Smith, Pamela
Vij, Neeraj
Belthur, Mohan
Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report
title Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report
title_full Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report
title_fullStr Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report
title_full_unstemmed Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report
title_short Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report
title_sort multidisciplinary management of infantile hypophosphatasia resulting in radiographic and clinical improvement: a case report
topic Endocrinology/Diabetes/Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235917/
https://www.ncbi.nlm.nih.gov/pubmed/35769684
http://dx.doi.org/10.7759/cureus.25426
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