HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA
HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA
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DOI：
10.1056/nejm198503073121003
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发表时间：
1985-01-01
影响因子：
158.5
通讯作者：
LIBERMAN, UA
中科院分区：
文献类型：
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作者：
TIEDER, M;MODAI, D;LIBERMAN, UA
本文报道一个新的遗传性低磷性佝偻病和高钙尿综合征。在所有患者中，疾病的表现开始于幼儿期。其特征是佝偻病、身材矮小、肾磷酸盐清除率增加（P的最大肾小管重吸收率与肾小球滤过率[TmP/GFR]之间的比值为2-4 SD，低于年龄相关平均值），高钙尿症（每24小时尿Ca为8.6 mg/kg体重，正常值上限为4.0），血清Ca水平正常，Ca和P的胃肠道吸收增加，血清中1，25-二羟维生素D浓度升高（390 ± 0.001）。99 pg/ml相对于正常值上限110），和抑制的甲状旁腺功能（免疫反应性甲状旁腺激素水平为0.33 ± 0.99 pg/ml）。0.1 ng/ml和cAMP水平为1.39 ± 0.01。0.12 nmol/dl肾小球滤过液与正常值下限分别为0.3和1.5）。长期补充磷酸盐作为唯一的治疗导致逆转所有的临床和生化异常，除了降低TmP/GFR。有人提出，这种综合征的关键缺陷是肾磷酸盐渗漏，导致低磷酸盐血症，适当升高1，25-二羟维生素D水平，导致钙吸收增加，甲状旁腺抑制和高钙尿症。该综合征可能是遗传性吸收性高钙尿症谱系的一端。支持磷酸盐作为调节剂在控制人体1，25-二羟维生素D产生中的重要性。
A new hereditary syndrome of hypophosphatemic rickets and hypercalciuria was studied in 6 affected members of 1 kindred. In all patients, the manifestations of disease began in early childhood. The characteristic features are rickets, short stature, increased renal phosphate clearance (the ratio between the maximal tubular reabsorption rate for P and the glomerular filtration rate [TmP/GFR] is 2-4 SD, below the age-related mean), hypercalciuria (8.6 mg of urinary Ca/kg body wt per 24 h vs. the upper normal value of 4.0), normal serum Ca levels, increased gastrointestinal absorption of Ca and P, an elevated serum concentration of 1,25-dihydroxyvitamin D (390 .+-. 99 pg/ml vs. the upper normal value of 110), and suppressed parathyroid function (an immunoreactive parathyroid hormone level of 0.33 .+-. 0.1 ng/ml and a cAMP level of 1.39 .+-. 0.12 nmol/dl glomerular filtrate vs. the lower normal values of 0.3 and 1.5, respectively). Long-term phosphate supplementation as the sole therapy resulted in reversal of all clinical and biochemical abnormalities except the decreased TmP/GFR. It is proposed that the pivotal defect in this syndrome is a renal phosphate leak resulting in hypophosphatemia with an appropriate elevation of 1,25-dihydroxyvitamin D levels, which causes increased Ca absorption, parathyroid suppression and hypercalciuria. This syndrome may represent 1 end of a spectrum of hereditary absorptive hypercalciuria. The importance of phosphate as a mediator in controlling 1,25-dihydroxyvitamin D production in humans is supported.