目的 了解低血磷性佝偻病（hypophosphatemic rickets, HR）患儿的诊断、治疗及并发症情况，探讨疾病疗效评价指标，了解患儿身高增长规律。 方法 回顾性分析2008年1月—2022年12月于南京医科大学附属儿童医院诊治的85例HR患儿的首诊临床资料及5年随访资料。 结果 85例HR患儿中，男性46例（54%），女性39例（46%）；首诊年龄范围为6个月至13岁9个月，中位年龄为2.75岁；平均身高标准差数值为-2.0±1.1。首诊时患儿血磷降低，血碱性磷酸酶（alkaline phosphatase, ALP）升高，99%（84/85）患儿存在下肢畸形，PHEX基因突变阳性率为93%（55/59）。患儿治疗1年后ALP水平及双下肢间距较前明显减低（P<0.05）。患儿身高在治疗后第1年增长最快，为8.23 cm/年；存在青春期身高突增峰速度（peak height velocity, PHV）阶段，持续约2年，男性患儿PHV阶段身高共增长9~20 cm，女性患儿PHV阶段身高共增长10~15 cm。患儿主要并发症为肾钙质沉着及甲状旁腺功能亢进。肾钙质沉着治疗后第1年发生率为55%（22/40），其发生率随病程延长而增加（P<0.001）；尿磷/尿肌酐比值升高与肾钙质沉着的风险升高呈正性关联（OR=1.740，P<0.001）。甲状旁腺功能亢进治疗后第1年发生率为64%（27/42）。 结论 对存在下肢畸形、身材矮小、生长缓慢的儿童，及早进行血磷、血钙、ALP检测及下肢影像学检查有助HR的早期诊断，必要时可结合基因检测确诊。ALP结合骨骼畸形改善及身高年增长情况可作为HR治疗疗效的评价指标。患儿青春期PHV阶段身高总增长小于正常儿童，需密切随访，及时调整治疗方案。

Objective To study the diagnosis, treatment, and complications of hypophosphatemic rickets (HR) in children, explore effectiveness evaluation indicators for the disease, and understand the pattern in height growth among these patients. Methods A retrospective analysis of the initial clinical data and five-year follow-up data of 85 children with HR treated at Children's Hospital of Nanjing Medical University from January 2008 to December 2022. Results Among the 85 children with HR, there were 46 males (54%) and 39 females (46%). The age at initial diagnosis ranged from 6 months to 13 years and 9 months, with a median age of 2.75 years. The average height standard deviation score was -2.0±1.1. At initial diagnosis, children exhibited reduced blood phosphate levels and elevated alkaline phosphatase (ALP), with 99% (84/85) presenting with lower limb deformities. The positive rate for PHEX gene mutations was 93% (55/59). One year post-treatment, there was a significant reduction in ALP levels and the gap between the lower limbs (P<0.05). The fastest height growth occurred in the first year after treatment, at 8.23 cm/year, with a peak height velocity (PHV) phase lasting about two years during puberty. The height increased by 9-20 cm in male children during the PHV stage and 10-15 cm in female children. Major complications included nephrocalcinosis and hyperparathyroidism. The incidence rate of nephrocalcinosis in the first year after treatment was 55% (22/40), which increased with the duration of the disease (P<0.001); an increased urinary phosphate/creatinine ratio was positively associated with a higher risk of nephrocalcinosis (OR=1.740, P<0.001). The incidence of hyperparathyroidism in the first year after treatment was 64% (27/42). Conclusions For children presenting with lower limb deformities, short stature, and slow growth, early testing for blood levels of phosphate, calcium, and ALP, along with imaging examinations of the lower limbs, can aid in the early diagnosis of HR. Genetic testing may be utilized for definitive confirmation when necessary. ALP combined with improvements in skeletal deformities and annual height growth can serve as indicators of therapeutic effectiveness for HR. Compared to normal children, children with HR demonstrate a lower height increase during the PHV phase, necessitating close follow-up and timely adjustment of treatment plans Citation:Chinese Journal of Contemporary Pediatrics, 2024, 26(7): 677-682