ArticleFrontiers in pediatrics2018
Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea.
Article in Frontiers in pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 11 citations in OpenAlex.
- Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.Global pediatric health · 2024Article
- Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review.Current issues in molecular biology · 2023Review
- Blessing in disguise: when head trauma solves the riddle of carbonic anhydrase II deficiency.Radiology case reports · 2022Article
- Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells.Stem cell research & therapy · 2019Article
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Authors and funding
8 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
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).
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