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Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea

The term osteopetrosis describes a group of rare hereditary diseases of the skeleton, characterized by an increase in bone density, caused by a defect in the development or function of osteoclasts. It comprises a clinically and genetically heterogeneous conditions ranging from infantile onset life-t...

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Autores principales: di Palmo, Emanuela, Gallucci, Marcella, Tronconi, Elena, Bergamaschi, Rosalba, Cazzato, Salvatore, La Scola, Claudio, Ricci, Giampaolo, Pession, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079206/
https://www.ncbi.nlm.nih.gov/pubmed/30109220
http://dx.doi.org/10.3389/fped.2018.00213
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author di Palmo, Emanuela
Gallucci, Marcella
Tronconi, Elena
Bergamaschi, Rosalba
Cazzato, Salvatore
La Scola, Claudio
Ricci, Giampaolo
Pession, Andrea
author_facet di Palmo, Emanuela
Gallucci, Marcella
Tronconi, Elena
Bergamaschi, Rosalba
Cazzato, Salvatore
La Scola, Claudio
Ricci, Giampaolo
Pession, Andrea
author_sort di Palmo, Emanuela
collection PubMed
description The term osteopetrosis describes a group of rare hereditary diseases of the skeleton, characterized by an increase in bone density, caused by a defect in the development or function of osteoclasts. It comprises a clinically and genetically heterogeneous conditions ranging from infantile onset life-threatening forms to mildest adult onset forms. “Malignant” osteopetrosis is characterized by bone fragility, short stature, compressive neuropathies, hypocalcaemia, pancytopaenia. The deficiency of carbonic anhydrase II causes a moderate form, presenting classically as a triad of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. This condition leads to specific craniofacial dysmorphisms associated with upper airway obstruction that may result in obstructive sleep apnea. Herein we report a case of osteopetrosis with RTA associated with severe OSAS successfully treated with continuous positive airway pressure (CPAP).
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spelling pubmed-60792062018-08-14 Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea di Palmo, Emanuela Gallucci, Marcella Tronconi, Elena Bergamaschi, Rosalba Cazzato, Salvatore La Scola, Claudio Ricci, Giampaolo Pession, Andrea Front Pediatr Pediatrics The term osteopetrosis describes a group of rare hereditary diseases of the skeleton, characterized by an increase in bone density, caused by a defect in the development or function of osteoclasts. It comprises a clinically and genetically heterogeneous conditions ranging from infantile onset life-threatening forms to mildest adult onset forms. “Malignant” osteopetrosis is characterized by bone fragility, short stature, compressive neuropathies, hypocalcaemia, pancytopaenia. The deficiency of carbonic anhydrase II causes a moderate form, presenting classically as a triad of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. This condition leads to specific craniofacial dysmorphisms associated with upper airway obstruction that may result in obstructive sleep apnea. Herein we report a case of osteopetrosis with RTA associated with severe OSAS successfully treated with continuous positive airway pressure (CPAP). Frontiers Media S.A. 2018-07-31 /pmc/articles/PMC6079206/ /pubmed/30109220 http://dx.doi.org/10.3389/fped.2018.00213 Text en Copyright © 2018 di Palmo, Gallucci, Tronconi, Bergamaschi, Cazzato, La Scola, Ricci and Pession. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
di Palmo, Emanuela
Gallucci, Marcella
Tronconi, Elena
Bergamaschi, Rosalba
Cazzato, Salvatore
La Scola, Claudio
Ricci, Giampaolo
Pession, Andrea
Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea
title Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea
title_full Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea
title_fullStr Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea
title_full_unstemmed Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea
title_short Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea
title_sort carbonic anhydrase ii deficiency: a rare case of severe obstructive sleep apnea
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079206/
https://www.ncbi.nlm.nih.gov/pubmed/30109220
http://dx.doi.org/10.3389/fped.2018.00213
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