Wendling D, Cassou M, Guidet M
Rev Rhum Mal Osteoartic. 1985 Jan;52(1):43-50.
Two very dissimilar cases of hypophosphatemia in the adult patient are described by the authors. The first case was symptomatic since childhood, with typical clinical and radiologic findings (fissures, diaphyseal bone spurs, bony deformities), whereas the second case was minimally symptomatic (loss of teeth and back pain). Articular chondrocalcinosis was observed in both cases, as was a decrease in alkaline phosphatase and the increased urinary excretion of phosphoethanolamine. Histological examination demonstrated an increase in osteoid. Review of the literature revealed 40 cases of this inborn error of metabolism seen in adulthood, enabling a detailed description of the characteristics of this polymorphic condition.
作者描述了两例成年患者的低磷血症,情况大不相同。第一例自童年起就有症状,有典型的临床和放射学表现(骨裂、骨干骨赘、骨骼畸形),而第二例症状轻微(牙齿脱落和背痛)。两例均观察到关节软骨钙质沉着症,同时碱性磷酸酶降低,磷酸乙醇胺尿排泄增加。组织学检查显示类骨质增加。文献回顾发现40例成年期出现的这种先天性代谢缺陷病例,从而能够详细描述这种多态性疾病的特征。