Ostéodystrophie héréditaire d'Albright: à propos d'une observation

Albright's hereditary osteodystrophy is a rare disease, characterized by phosphocalcic balance abnormalities related to peripheral resistance to parathyroid hormone. It is an hereditary affection with autosomal dominant inheritance pattern caused by mutation in GNAS gene1. It combines specific...

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Autores principales: Tami, Laila, Rherib, Chaima, Chefchaouni, Kanza, Knouni, Houria, Barkat, Amina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060915/
https://www.ncbi.nlm.nih.gov/pubmed/32180864
http://dx.doi.org/10.11604/pamj.2019.34.190.13398
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author Tami, Laila
Rherib, Chaima
Chefchaouni, Kanza
Knouni, Houria
Barkat, Amina
author_facet Tami, Laila
Rherib, Chaima
Chefchaouni, Kanza
Knouni, Houria
Barkat, Amina
author_sort Tami, Laila
collection PubMed
description Albright's hereditary osteodystrophy is a rare disease, characterized by phosphocalcic balance abnormalities related to peripheral resistance to parathyroid hormone. It is an hereditary affection with autosomal dominant inheritance pattern caused by mutation in GNAS gene1. It combines specific morphotype, subcutaneous calcifications, bone and renal resistance to parathyroid hormone. We report a new case of Albright's hereditary osteodystrophy in a 9-month old infant followed up for significant hypocalcaemia which occurred at 10 days of life. The purpose of this study was to remind clinicians of the clinical, biological, genetic and therapeutic features of this disease.
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spelling pubmed-70609152020-03-16 Ostéodystrophie héréditaire d'Albright: à propos d'une observation Tami, Laila Rherib, Chaima Chefchaouni, Kanza Knouni, Houria Barkat, Amina Pan Afr Med J Case Report Albright's hereditary osteodystrophy is a rare disease, characterized by phosphocalcic balance abnormalities related to peripheral resistance to parathyroid hormone. It is an hereditary affection with autosomal dominant inheritance pattern caused by mutation in GNAS gene1. It combines specific morphotype, subcutaneous calcifications, bone and renal resistance to parathyroid hormone. We report a new case of Albright's hereditary osteodystrophy in a 9-month old infant followed up for significant hypocalcaemia which occurred at 10 days of life. The purpose of this study was to remind clinicians of the clinical, biological, genetic and therapeutic features of this disease. The African Field Epidemiology Network 2019-12-10 /pmc/articles/PMC7060915/ /pubmed/32180864 http://dx.doi.org/10.11604/pamj.2019.34.190.13398 Text en © Laila Tami et al. http://creativecommons.org/licenses/by/2.0/ The Pan African Medical Journal - ISSN 1937-8688. 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 work is properly cited.
spellingShingle Case Report
Tami, Laila
Rherib, Chaima
Chefchaouni, Kanza
Knouni, Houria
Barkat, Amina
Ostéodystrophie héréditaire d'Albright: à propos d'une observation
title Ostéodystrophie héréditaire d'Albright: à propos d'une observation
title_full Ostéodystrophie héréditaire d'Albright: à propos d'une observation
title_fullStr Ostéodystrophie héréditaire d'Albright: à propos d'une observation
title_full_unstemmed Ostéodystrophie héréditaire d'Albright: à propos d'une observation
title_short Ostéodystrophie héréditaire d'Albright: à propos d'une observation
title_sort ostéodystrophie héréditaire d'albright: à propos d'une observation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060915/
https://www.ncbi.nlm.nih.gov/pubmed/32180864
http://dx.doi.org/10.11604/pamj.2019.34.190.13398
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