腺嘌呤磷酸核糖转移酶缺陷患儿骨与电解质代谢的改变

摘要

目的：观察腺嘌呤磷酸核糖转移酶(APRT)缺陷患者骨与电解质代谢的改变。方法：收治APRT缺陷患儿(患病组)5例，检测其骨密度(BMD)、血清甲状旁腺激素(PTH)、血清碱性磷酸酶(ALP)、血清钙(Ca)及血清磷(P)的水平，并且与正常儿童(对照组)进行比较。结果：APRT 缺陷患儿 BMD 及血清 Ca 明显低于正常儿童(P＜0.05)，血清 PTH、ALP及P明显高于正常儿童(P＜0.05)。结论：APRT缺陷患儿骨与电解质代谢明显紊乱，呈高代谢性骨病样改变。因此在治疗时，不仅要保护肾功能，同时应纠正电解质紊乱，调节骨转换率，纠正骨质疏松。%Objective:To observe the changes of bone and electrolyte metabolism in children with adenine phosphate transferase deficiency(APRT).Methods:5 patients with APRT(the illness groups)were selected.We detected the bone mineral density (BMD), serum parathyroid hormone(PTH),serum alkaline phosphatase(ALP),serum calcium(Ca)and serum phosphorus(P) levels,and compared with normal children(the control group).Results:The BMD and serum Ca of children with APRT deficiency were significantly lower than normal children(P<0.05);serum levels of PTH,ALP and P were significantly higher than those in normal children(P<0.05).Conclusion:Children APRT deficiency have obvious bone and electrolyte metabolism disorder.It shows a high metabolic bone disease like change.Therefore,in the treatment,we should not only protect the renal function,but also correct electrolyte disorder,regulate bone turnover rate,to correct the osteoporosis.