Sann L, David L, Galy G, Romand-Monier M
Acta Paediatr Scand. 1978 May;67(3):303-7. doi: 10.1111/j.1651-2227.1978.tb16325.x.
A case of copper deficiency associated with hypocalcemia, radiological features of rickets and hyperparathyroidism is described in a small-for-date infant (gestational age 39 weeks, B.W 1 240 g). Neonatal serum copper (Cu) levels were found between 223 and 138 mumol/l. She was given daily 2 400 U of vitamin D2 and a load dose of 80 000 IU at the age of 55 days. At the age of 79 days, X-rays of the legs and wrist showed spread, cupped and frayed metaphyses. Serum Ca was 1.35 mmol/l, P = 0.99 mmol/l with high alkaline phosphatases (A.P.) 590 IU/ml. But plasma level of 25 hydroxycholecalciferol (25-OH-CC) was normal = 10.8 ng/ml. Serum Cu was low = 3.14 mumol/l and serum immunoreactive parathormone (iPTH) level was elevated: 520 mulEq/ml (N less than or equal to 100). Administration of vitamin D2 (15 mg) induced an immediate normalization of serum Ca, normal serum iPTH (68 mulEq/ml) in one month, normal X-rays in two months and normal A.P. in four months. Serum Cu and ceruloplasmin levels increased slowly without any supplementation to subnormal levels at the age of eight months (14.9 and 1.65 mumol/l. Serum Cu concentrations were found to be normal (16.0--33.7 mumol/l) in five children with hypocalcemic rickets. These results suggest a role of Cu deficiency in the occurrence of this transient vitamin D-resistant rickets.
本文描述了一例足月小样儿（胎龄39周，出生体重1240g）出现铜缺乏并伴有低钙血症、佝偻病放射学特征及甲状旁腺功能亢进的病例。新生儿血清铜（Cu）水平在223至138μmol/L之间。患儿在55日龄时每日给予2400U维生素D2及80000IU负荷剂量。79日龄时，双下肢及腕部X线显示干骺端增宽、杯口状及毛刷样改变。血清钙为1.35mmol/L，磷为0.99mmol/L，碱性磷酸酶（A.P.）升高至590IU/ml。但血浆25羟胆钙化醇（25-OH-CC）水平正常，为10.8ng/ml。血清铜低，为3.14μmol/L，血清免疫反应性甲状旁腺激素（iPTH）水平升高：520μlEq/ml（正常≤100）。给予维生素D2（15mg）后，血清钙立即恢复正常，1个月时血清iPTH正常（68μlEq/ml），2个月时X线恢复正常，4个月时A.P.恢复正常。血清铜和铜蓝蛋白水平在未补充任何物质的情况下缓慢升高，至8个月时仍低于正常水平（分别为14.9和1.65μmol/L）。在5例低钙性佝偻病患儿中发现血清铜浓度正常（16.0 - 33.7μmol/L）。这些结果提示铜缺乏在这种短暂性维生素D抵抗性佝偻病的发生中起作用。
