Scriver C R, Reade T, Halal F, Costa T, Cole D E
Arch Dis Child. 1981 Mar;56(3):203-7. doi: 10.1136/adc.56.3.203.
We diagnosed non X-linked hypophosphataemic bone disease in a 38-month-old girl. Findings included: genu varum, shortened stature, fasting hypophosphataemia (2.3-2.5 mg/100 ml; 0.74-0.81 mmol/l), diminished theoretical renal threshold for phosphate (TmP/GFR), and osteomalacia without rickets. One patient (the father) had fasting hypophosphataemia (2.3-2.7 mg/100 ml; 0.74-0.87 mmol/l) and low TmP/GFR without osteomalacia or shortened stature. Treatment of the girl with 1,25-(OH)2D3 (1 microgram a day) raised the level of serum phosphorus, improved tubular reabsorption of phosphate, and healed the bone deformity; this combination of responses is not present in X-linked hypophosphataemia. There was no correction of hypophosphataemia or TmP/GFR with 1,25-(OH)2D3 treatment (1-3 micrograms a day) in the father.
我们诊断出一名38个月大的女孩患有非X连锁低磷性骨病。检查结果包括：膝内翻、身材矮小、空腹低磷血症（2.3 - 2.5毫克/100毫升；0.74 - 0.81毫摩尔/升）、理论上的肾脏磷酸盐阈值（TmP/GFR）降低，以及无佝偻病的骨软化症。一名患者（父亲）有空腹低磷血症（2.3 - 2.7毫克/100毫升；0.74 - 0.87毫摩尔/升）和低TmP/GFR，但无骨软化症或身材矮小。用1,25 -（OH）2D3（每天1微克）治疗该女孩可提高血清磷水平，改善肾小管对磷酸盐的重吸收，并治愈骨骼畸形；这种综合反应在X连锁低磷血症中不存在。父亲接受1,25 -（OH）2D3治疗（每天1 - 3微克）后，低磷血症或TmP/GFR未得到纠正。
