Department of Endocrinology & Diabetes, Birmingham Women's & Children's NHS Foundation Trust; Institute of Metabolism & Systems Research, University of Birmingham, Edgbaston, Birmingham, UK.
Institute of Metabolism & Systems Research, University of Birmingham, Edgbaston, Birmingham, UK; Department of Paediatrics & Adolescent Medicine, Johannes Kepler University, Kepler University Hospital, Med Campus IV, Linz, Austria.
Indian J Med Res. 2020 Oct;152(4):356-367. doi: 10.4103/ijmr.IJMR_1961_19.
Defective mineralization of the growth plate and preformed osteoid result in rickets and osteomalacia, respectively. The leading cause of rickets worldwide is solar vitamin D deficiency and/or dietary calcium deficiency collectively termed as nutritional rickets. Vitamin D deficiency predominates in high-latitude countries in at-risk groups (dark skin, reduced sun exposure, infants and pregnant and lactating women) but is emerging in some tropical countries due to sun avoidance behaviour. Calcium deficiency predominates in tropical countries, especially in the malnourished population. Nutritional rickets can have devastating health consequences beyond bony deformities (swollen wrist and ankle joints, rachitic rosary, soft skull, stunting and bowing) and include life-threatening hypocalcaemic complications of seizures and, in infancy, heart failure due to dilated cardiomyopathy. In children, diagnosis of rickets (always associated with osteomalacia) is confirmed on radiographs (cupping and flaring of metaphyses) and should be suspected in high risk individuals with the above clinical manifestations in the presence of abnormal blood biochemistry (high alkaline phosphatase and parathyroid hormone, low 25-hydroxyvitamin D and calcium and/or low phosphate). In adults or adolescents with closed growth plates, osteomalacia presents with non-specific symptoms (fatigue, malaise and muscle weakness) and abnormal blood biochemistry, but only in extreme cases, it is associated with radiographic findings of Looser's zone fractures. Bone biopsies could confirm osteomalacia at earlier disease stages, for definitive diagnosis. Treatment includes high-dose cholecalciferol or ergocalciferol daily for a minimum of 12 wk or stoss therapy in exceptional circumstances, each followed by lifelong maintenance supplementation. In addition, adequate calcium intake through diet or supplementation should be ensured. Preventative approaches should be tailored to the population needs and incorporate multiple strategies including targeted vitamin D supplementation of at-risk groups and food fortification with vitamin D and/or calcium. Economically, food fortification is certainly the most cost-effective way forward.
生长板的矿物质化缺陷和预先形成的类骨质分别导致佝偻病和骨软化症。全球佝偻病的主要原因是太阳维生素 D 缺乏和/或饮食钙缺乏,统称为营养性佝偻病。维生素 D 缺乏在高纬度国家的高危人群(深色皮肤、阳光暴露减少、婴儿和孕妇及哺乳期妇女)中更为普遍,但由于避免日晒行为,一些热带国家也开始出现这种情况。钙缺乏在热带国家更为普遍,尤其是在营养不良人群中。营养性佝偻病除了骨骼畸形(腕关节和踝关节肿胀、佝偻病串珠、颅骨软化、发育迟缓、弯曲)之外,还会导致危及生命的低钙血症并发症,如癫痫发作,以及婴儿期因扩张型心肌病导致心力衰竭。在儿童中,佝偻病(总是与骨软化症相关)的诊断通过 X 光片(干骺端杯口状和增宽)确认,对于存在上述临床表现且血液生化指标异常(碱性磷酸酶和甲状旁腺激素高、25-羟维生素 D 和钙低和/或磷酸盐低)的高危人群,应怀疑患有佝偻病。对于生长板已闭合的成年人或青少年,骨软化症表现为非特异性症状(疲劳、不适和肌肉无力)和血液生化指标异常,但只有在极端情况下,才会与 Looser 区骨折的放射学发现相关。骨活检可在疾病早期阶段确认骨软化症,以进行明确诊断。治疗包括每天口服大剂量胆钙化醇或麦角钙化醇,至少 12 周,或在特殊情况下进行冲击治疗,之后均需终身维持补充。此外,应通过饮食或补充剂确保摄入足够的钙。预防措施应根据人群需求制定,并结合多种策略,包括对高危人群进行有针对性的维生素 D 补充、食物强化维生素 D 和/或钙。从经济角度来看,食物强化无疑是最具成本效益的方法。