Moncrieff M W
Arch Dis Child. 1982 Jan;57(1):70-2.
Regular biochemical measurements were made in 4 babies, each of whom had one parent with familial hypophosphataemic, hyperphosphaturic rickets. Hypophosphataemia developed by 2 months and levels of alkaline phosphatase had increased by 3 months in all four. Decreased tubular reabsorption of phosphate and x-ray changes of rickets did not develop until 6 months in 3 of the babies. In the fourth these abnormalities developed at 9 days and 3 months. The babies were treated with oral phosphate and small doses of 1-alpha-hydroxy-cholecalciferol. The rickets healed readily in 3 babies and their linear growth kis within the normal range. Healing took much longer in the remaining child and his linear growth is below the 3rd centile. Hypercalcaemia has not been a problem of treatment.
对4名婴儿进行了常规生化检测，他们每人都有一位患有家族性低磷血症、高磷尿性佝偻病的家长。所有4名婴儿在2个月时出现低磷血症，3个月时碱性磷酸酶水平升高。3名婴儿直到6个月时才出现肾小管对磷的重吸收减少和佝偻病的X线改变。第四名婴儿在9天和3个月时出现了这些异常。这些婴儿接受了口服磷酸盐和小剂量1-α-羟基胆钙化醇的治疗。3名婴儿的佝偻病很容易治愈，他们的线性生长在正常范围内。剩下的那名儿童的治愈时间要长得多，他的线性生长低于第3百分位。高钙血症不是治疗中的问题。
