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Neonatal lethal hypophosphatasia: A case report and review of literature
RATIONALE: Hypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase. The severe neonatal form is considered lethal but insights into manifestations of the disease can help to increase our k...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283130/ https://www.ncbi.nlm.nih.gov/pubmed/30508915 http://dx.doi.org/10.1097/MD.0000000000013269 |
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author | Castells, Laura Cassanello, Pía Muñiz, Felix de Castro, María-José Couce, María L. |
author_facet | Castells, Laura Cassanello, Pía Muñiz, Felix de Castro, María-José Couce, María L. |
author_sort | Castells, Laura |
collection | PubMed |
description | RATIONALE: Hypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase. The severe neonatal form is considered lethal but insights into manifestations of the disease can help to increase our knowledge of the natural history for an early initiation of treatment and improvement of survival. PATIENT CONCERNS: We report the case of a newborn in which his fetal imaging showed findings of skeletal dysplasia disorder, considering initially achondroplasia as a potential diagnosis. DIAGNOSIS: A definitive diagnosis compatible with perinatal lethal HPP was established in the 1st days due to the presentation at birth with thoracic and pulmonary hypoplasia, bone hypomineralization, and undetectable alkaline phosphatase. The genetic analysis identified a new heterozygous c.413G>C mutation and another 1 c.473-2G>C previously described in the ALPL gene. OUTCOMES: The patient died on the 4th day by clinical course complicated without having started enzyme replacement therapy (ERT). Retrospectively, previous analyzes of the parents already showed both a decreased alkaline phosphatase. LESSONS: This report highlights the importance of prenatal differential diagnosis of bone dysplasia with the key biochemical marker of alkaline phosphatase in the parents. Substitutive ERT administered very soon after birth, seems to change the prognosis in these patients with neonatal HPP. |
format | Online Article Text |
id | pubmed-6283130 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-62831302018-12-26 Neonatal lethal hypophosphatasia: A case report and review of literature Castells, Laura Cassanello, Pía Muñiz, Felix de Castro, María-José Couce, María L. Medicine (Baltimore) Research Article RATIONALE: Hypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase. The severe neonatal form is considered lethal but insights into manifestations of the disease can help to increase our knowledge of the natural history for an early initiation of treatment and improvement of survival. PATIENT CONCERNS: We report the case of a newborn in which his fetal imaging showed findings of skeletal dysplasia disorder, considering initially achondroplasia as a potential diagnosis. DIAGNOSIS: A definitive diagnosis compatible with perinatal lethal HPP was established in the 1st days due to the presentation at birth with thoracic and pulmonary hypoplasia, bone hypomineralization, and undetectable alkaline phosphatase. The genetic analysis identified a new heterozygous c.413G>C mutation and another 1 c.473-2G>C previously described in the ALPL gene. OUTCOMES: The patient died on the 4th day by clinical course complicated without having started enzyme replacement therapy (ERT). Retrospectively, previous analyzes of the parents already showed both a decreased alkaline phosphatase. LESSONS: This report highlights the importance of prenatal differential diagnosis of bone dysplasia with the key biochemical marker of alkaline phosphatase in the parents. Substitutive ERT administered very soon after birth, seems to change the prognosis in these patients with neonatal HPP. Wolters Kluwer Health 2018-11-30 /pmc/articles/PMC6283130/ /pubmed/30508915 http://dx.doi.org/10.1097/MD.0000000000013269 Text en Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 |
spellingShingle | Research Article Castells, Laura Cassanello, Pía Muñiz, Felix de Castro, María-José Couce, María L. Neonatal lethal hypophosphatasia: A case report and review of literature |
title | Neonatal lethal hypophosphatasia: A case report and review of literature |
title_full | Neonatal lethal hypophosphatasia: A case report and review of literature |
title_fullStr | Neonatal lethal hypophosphatasia: A case report and review of literature |
title_full_unstemmed | Neonatal lethal hypophosphatasia: A case report and review of literature |
title_short | Neonatal lethal hypophosphatasia: A case report and review of literature |
title_sort | neonatal lethal hypophosphatasia: a case report and review of literature |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283130/ https://www.ncbi.nlm.nih.gov/pubmed/30508915 http://dx.doi.org/10.1097/MD.0000000000013269 |
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