General Academic Pediatrics, Department of Pediatrics, The Children's Hospital, University of Colorado Denver Health Sciences Center, Aurora, Colorado 80045, USA.
Curr Opin Pediatr. 2010 Dec;22(6):829-32. doi: 10.1097/MOP.0b013e32833fad23.
Although vitamin D deficiency is a common cause of rickets, other types of rickets, including hereditary forms, must be considered in the differential diagnosis. The patient described here presented for evaluation of bowing of his lower extremities, and was ultimately diagnosed with X-linked hypophosphatemic rickets, a disorder caused by renal wasting of phosphate that occurs as a result of a mutation in the PHEX gene.
尽管维生素 D 缺乏是佝偻病的常见病因,但在鉴别诊断中还必须考虑其他类型的佝偻病,包括遗传性佝偻病。此处描述的患者因下肢弯曲来诊,最终被诊断为 X 连锁低磷血症性佝偻病,这是一种由 PHEX 基因突变导致的肾脏磷酸盐丢失引起的疾病。