Fujiwara Makoto, Namba Noriyuki, Ozono Keiichi, Arisaka Osamu, Yokoya Susumu
Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
Clin Pediatr Endocrinol. 2013 Jan;22(1):9-14. doi: 10.1292/cpe.22.. Epub 2013 Feb 7.
Hereditary hypophosphatemic rickets represented by X-linked hypophosphatemic rickets (XLH) is a rare disorder characterized by hypophosphatemia, elevated alkaline phosphatase (ALP) and undermineralization of bone. Active vitamin D and phosphate are administered to correct hypophosphatemia and elevation of ALP. Overtreatment with phosphate leads to secondary hyperparathyroidism, and a large dose of active vitamin D has a risk of hypercalciuria. To understand the situation concerning treatment of patients with hereditary hypophosphatemic rickets in Japan, we conducted a questionnaire survey of pediatric endocrinologists. Answers were obtained from 53 out of 68 hospitals where the pediatric endocrinologists worked. One hundred and thirty-five patients were treated in 28 hospitals during November 2009 and May 2010; 126 patients suffered from hereditary hypophosphatemic rickets, and 9 had hypophosphatemia caused by other miscellaneous reasons. The distribution of patient age was as follows: 27 (21%) were between 6 mo and 6 yr of age, 39 (31%) were between 6 and 12 yr of age, and 60 (48%) were more than 12 yr of age. Active vitamin D was given to 123 patients, and phosphate was given to 106 patients. As for the dose of phosphorus, 37.2-58.1 mg/kg/d was given divided into 2 to 6 aliquots. There were various control targets of treatment, including serum phosphate, serum ALP, rachitic change, urinary Ca/Cr, parathyroid hormone and growth. It is very important to avoid side effects of these treatments. No evidence is available about the optimal dose of phosphate or number of administrations in the treatment of patients with hypophosphatemic rickets. Although there is a recommendation for clinical management of patients with hypophosphatemic rickets, we should set a clinical guideline for it in Japan.
以X连锁低磷性佝偻病（XLH）为代表的遗传性低磷性佝偻病是一种罕见疾病，其特征为低磷血症、碱性磷酸酶（ALP）升高以及骨矿化不足。给予活性维生素D和磷酸盐以纠正低磷血症和ALP升高。磷酸盐过度治疗会导致继发性甲状旁腺功能亢进，而大剂量活性维生素D有高钙尿症的风险。为了解日本遗传性低磷性佝偻病患者的治疗情况，我们对儿科内分泌学家进行了问卷调查。在儿科内分泌学家工作的68家医院中，有53家给出了答复。2009年11月至2010年5月期间，28家医院对135例患者进行了治疗；其中126例患有遗传性低磷性佝偻病，9例因其他杂症导致低磷血症。患者年龄分布如下：27例（21%）年龄在6个月至6岁之间，39例（31%）年龄在6至12岁之间，60例（48%）年龄超过12岁。123例患者给予了活性维生素D，106例患者给予了磷酸盐。至于磷的剂量，给予37.2 - 58.1mg/kg/d，分为2至6次服用。治疗的控制目标多种多样，包括血清磷酸盐、血清ALP、佝偻病改变、尿钙/肌酐、甲状旁腺激素和生长情况。避免这些治疗的副作用非常重要。关于低磷性佝偻病患者治疗中磷酸盐的最佳剂量或给药次数尚无证据。尽管对于低磷性佝偻病患者的临床管理有相关建议，但我们仍应在日本制定针对它的临床指南。
