Radó J, Haris A, Szebenyi B
Fövárosi Uzsoki utcai Kórház Nefrológia-Hypertonia 3. sz. Belgyógyászati Osztály Budapest.
Orv Hetil. 1997 Jun 29;138(26):1683-8.
Three patients (a grandmother, her daughter and her grandson) belonging to a 23-number-kindred of five generations suffered from adult-onset, X-linked, familiar hypophosphataemic osteomalacia. According to the familiar anecdotes the great-grandmother also had the same disease. The clinical diagnosis was documented by X-ray pictures, scintigraphic and bone histological results, the laboratory diagnosis was proven by blood and urine analyses examined after phosphate loading. The youngest, 24-year-old patient was treated with daily 3 g phosphate and high doses of calcitriol for 2 years. As a new feature of our therapy, per os treatment with 1.25 micrograms calcitriol was supplemented by daily 2-4 micrograms iv. bolus calcitriol for one week every month. The osteomalacia, causing serious symptoms and complaints, healed. Our treatment seemed to be safe, as renal functions, serum total and ionized calcium and PTH levels (including midnight values) remained in normal range. On the basis of our results this disease can be treated by administration of high doses of phosphate, provided that development of hyperparathyroidism is prevented by the coadministration of high doses of calcitriol.
一个五代23人的家族中有三名患者（一位祖母、她的女儿和她的孙子）患有成人起病的X连锁家族性低磷性骨软化症。据家族轶事记载，曾祖母也患有同样的疾病。通过X线片、骨闪烁显像和骨组织学结果记录临床诊断，通过磷负荷后血液和尿液分析证实实验室诊断。最年轻的24岁患者接受了为期2年的每日3克磷和高剂量骨化三醇治疗。作为我们治疗的一个新特点，口服1.25微克骨化三醇的同时，每月补充一周每日静脉推注2 - 4微克骨化三醇。导致严重症状和不适的骨软化症痊愈。我们的治疗似乎是安全的，因为肾功能、血清总钙和离子钙以及甲状旁腺激素水平（包括午夜值）仍保持在正常范围内。根据我们的结果，这种疾病可以通过给予高剂量的磷来治疗，前提是通过同时给予高剂量的骨化三醇来预防甲状旁腺功能亢进的发生。
