Chanchlani Rahul, Nemer Paul, Sinha Rajiv, Nemer Lena, Krishnappa Vinod, Sochett Etienne, Safadi Fayez, Raina Rupesh
Division of Pediatric Nephrology, Department of Pediatrics, McMaster Children's Hospital, Hamilton, Ontario, Canada.
Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, Canada.
Kidney Int Rep. 2020 Apr 11;5(7):980-990. doi: 10.1016/j.ekir.2020.03.025. eCollection 2020 Jul.
Rickets is a common bone disease worldwide that is associated with disturbances in calcium and phosphate homeostasis and can lead to short stature and joint deformities. Rickets can be diagnosed based on history and physical examination, radiological features, and biochemical tests. It can be classified into 2 major groups based on phosphate or calcium levels: phosphopenic and calcipenic. Knowledge of categorization of the type of rickets is essential for prompt diagnosis and proper management. Nutritional rickets is a preventable disease through adequate intake of vitamin D through both dietary and sunlight exposure. There are other subtypes of rickets, such as vitamin D-dependent type 1 rickets and vitamin D-dependent type 2 rickets (due to defects in vitamin D metabolism), renal rickets (due to poor kidney function), and hypophosphatemic rickets (vitamin D-resistant rickets secondary to renal phosphate wasting wherein fibroblast growth factor-23 (FGF-23) often plays a major role), which requires closer monitoring and supplementation with activated vitamin D with or without phosphate supplements. An important development has been the introduction of burosumab, a human monoclonal antibody to FGF-23, which is approved for the treatment of X-linked hypophosphatemia among children 1 year and older.
佝偻病是一种全球常见的骨骼疾病,与钙和磷稳态紊乱有关,可导致身材矮小和关节畸形。佝偻病可根据病史、体格检查、放射学特征和生化检查进行诊断。根据磷或钙水平,它可分为两大类:低磷性和低钙性。了解佝偻病的类型分类对于及时诊断和正确治疗至关重要。营养性佝偻病是一种可通过饮食摄入足够维生素D以及阳光照射来预防的疾病。佝偻病还有其他亚型,如维生素D依赖性1型佝偻病和维生素D依赖性2型佝偻病(由于维生素D代谢缺陷)、肾性佝偻病(由于肾功能不佳)以及低磷性佝偻病(继发于肾性磷耗竭的维生素D抵抗性佝偻病,其中成纤维细胞生长因子23(FGF - 23)常起主要作用),这需要密切监测,并补充活性维生素D,可能还需要补充磷。一项重要进展是引入了布罗索尤单抗,一种针对FGF - 23的人单克隆抗体,已被批准用于治疗1岁及以上儿童的X连锁低磷血症。