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

Frontiers in Pediatrics

Emanuela di Palmo¹ 

关键词: osteopetrosis;    obstructive sleep apnea;    continuous positive airway pressure;    acidosis;    adenotonsillectomy;    carbonic anhydrase II deficiency;   

DOI  :  10.3389/fped.2018.00213

学科分类：儿科学

来源: Frontiers

【 摘 要 】

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).

【 授权许可】

CC BY