Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO 63110, USA.
Endocrinology Department, Ochsner Medical Center, New Orleans, LA 70121, USA.
Bone. 2022 Jul;160:116421. doi: 10.1016/j.bone.2022.116421. Epub 2022 Apr 13.
Inhalant use disorder is a psychiatric condition characterized by repeated deliberate inhalation from among a broad range of household and industrial chemical products with the intention of producing psychoactive effects. In addition to acute intoxication, prolonged inhalation of fluorinated compounds can cause skeletal fluorosis (SF). We report a young woman referred for hypophosphatasemia and carrying a heterozygous ALPL gene variant (c.457T>C, p.Trp153Arg) associated with hypophosphatasia, the heritable metabolic bone disease featuring impaired skeletal mineralization, who instead suffered from SF. Manifestations of her SF included recurrent articular pain, axial osteosclerosis, elevated bone mineral density, maxillary exostoses, and multifocal periarticular calcifications. SF was suspected when a long history was discovered of 'huffing' a computer cleaner containing 1,1-difluoroethane. Investigation revealed markedly elevated serum and urine levels of F. Histopathology and imaging techniques including backscattered electron mode scanning electron microscopy, X-ray microtomography, energy dispersive and wavelength dispersive X-ray emission microanalysis, and polarized light microscopy revealed that her periarticular calcifications were dystrophic deposition of giant pseudo-crystals of francolite, a carbonate-rich fluorapatite. Identifying unusual circumstances of F exposure is key for diagnosing non-endemic SF. Increased awareness of the disorder can be lifesaving.
吸入物使用障碍是一种精神疾病，其特征是反复故意从广泛的家庭和工业化学产品中吸入，意图产生精神活性作用。除了急性中毒外，长期吸入含氟化合物会导致氟骨症（SF）。我们报告了一名年轻女性，因低磷酸血症就诊，携带与低磷酸血症相关的杂合 ALPL 基因突变（c.457T>C，p.Trp153Arg），这是一种遗传性代谢性骨病，其特征是骨骼矿化受损，而她却患有 SF。她的 SF 表现包括反复发作的关节疼痛、轴性骨硬化、骨密度升高、上颌骨外生骨疣和多灶性关节周围钙化。当发现她有“吸”含 1,1-二氟乙烷的电脑清洁剂的长期病史时，怀疑患有 SF。调查显示，她的血清和尿液中 F 的水平明显升高。组织病理学和成像技术，包括背散射电子模式扫描电子显微镜、X 射线微断层扫描、能量色散和波长色散 X 射线发射微分析以及偏光显微镜，显示她的关节周围钙化是氟磷灰石的巨假性晶体的营养不良性沉积，氟磷灰石是一种富含碳酸盐的氟磷灰石。确定 F 暴露的不寻常情况是诊断非地方性 SF 的关键。提高对该疾病的认识可以挽救生命。
