Li Hai-Qi, Chen Qiu-Xia, Che Ruo-Chen, Zheng Bi-Xia, Zhang Ai-Hua, Chen Ying
Children's Hospital of Nanjing Medical University, Nanjing 210000, China com.
Zhongguo Dang Dai Er Ke Za Zhi. 2024 Jul 15;26(7):677-682. doi: 10.7499/j.issn.1008-8830.2312013.
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.
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.
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 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 (<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 (<0.001); an increased urinary phosphate/creatinine ratio was positively associated with a higher risk of nephrocalcinosis (=1.740, <0.001). The incidence of hyperparathyroidism in the first year after treatment was 64% (27/42).
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 .
研究儿童低磷性佝偻病（HR）的诊断、治疗及并发症，探索该病的疗效评估指标，并了解这些患者的身高增长模式。
回顾性分析2008年1月至2022年12月在南京医科大学附属儿童医院接受治疗的85例HR患儿的初始临床资料及五年随访数据。
85例HR患儿中，男性46例（54%），女性39例（46%）。初次诊断年龄为6个月至13岁9个月，中位年龄为2.75岁。平均身高标准差评分为-2.0±1.1。初诊时，患儿血磷水平降低，碱性磷酸酶（ALP）升高，99%（84/85）出现下肢畸形。基因突变阳性率为93%（55/59）。治疗1年后，ALP水平及下肢差距显著降低（<0.05）。治疗后第一年身高增长最快，为8.23厘米/年，青春期峰值身高速度（PHV）阶段持续约两年。男性患儿在PHV阶段身高增加9 - 20厘米，女性患儿增加10 - 15厘米。主要并发症包括肾钙质沉着症和甲状旁腺功能亢进。治疗后第一年肾钙质沉着症发病率为55%（22/40），随病程延长而增加（<0.001）；尿磷/肌酐比值升高与肾钙质沉着症风险增加呈正相关（=1.740，<0.001）。治疗后第一年甲状旁腺功能亢进发病率为64%（27/42）。
对于出现下肢畸形、身材矮小和生长缓慢的儿童，早期检测血磷、血钙和ALP水平以及下肢影像学检查有助于HR的早期诊断。必要时可进行基因检测以明确诊断。ALP水平结合骨骼畸形改善及年度身高增长可作为HR治疗效果的指标。与正常儿童相比，HR患儿在PHV阶段身高增长较低，需要密切随访并及时调整治疗方案。
