Abstract:
: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).
journal_name
Front Pediatrjournal_title
Frontiers in pediatricsauthors
di Palmo E,Gallucci M,Tronconi E,Bergamaschi R,Cazzato S,La Scola C,Ricci G,Pession Adoi
10.3389/fped.2018.00213subject
Has Abstractpub_date
2018-07-31 00:00:00pages
213issn
2296-2360journal_volume
6pub_type
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
doi:10.3389/fped.2020.565368
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,评审
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