Sann L, David L, Frederich A, Bovier-Lapierre M, Bourgeois J, Romand-Monier M, Bethenod M
Acta Paediatr Scand. 1977 May;66(3):323-7. doi: 10.1111/j.1651-2227.1977.tb07901.x.
A case of congenital rickets of nutritional origin is described in a light-for-date premature infant (gestational age 34 weeks, birthweight 1 100 g). X-rays of the long bones showed spread, frayed and cupped metaphyses at birth and at the age of 16 days. Serum calcium was 8.2 mg/100 ml, phosphorus 3.4 mg/100 ml and alkaline phosphatase (A.P):323 IU/ml (N less than or equal to 200) at the age of 3 days. Very high level of serum immunoreactive parathroid hormone (iPTH) was found at the age of 16 days=295 micronlEq/ml (N less than or equal to 50). Evidence of maternal vitamin D deficiency was demostrated by low plasma 25-hydroxycholecalciferol (25-OH-CC):1.0 ng/ml (N:13.2+/-4.2) soon after delivery; it was found to be normal (10.2 ng/ml) six months later. Ca infusion (15 mg/kg/3 h) resulted in a marked fall of serum iPTH (280 to 84 micronlEq/ml). Administration of vitamin D2 (2400 IU/day for 10 days) induced some healing of the metaphyses; A. P. remained elevated (400 IU/ml); plasma 25-OH-CC was normal 10.2 ng/ml and serum iPTH was 115 micronlEq/ml. When 25-OH-CC was given orally for ten days (15 microng/day), plasma 25-OH-CC rose to 64.5 ng/ml with a minor change of serum iPTH (94 micronlEq/ml); X-rays of the bones showed osteoporosis. These results suggest a reduced convertion of 25-OH-CC into 1-25-(OH)2-CC.
本文描述了一例营养性先天性佝偻病病例，患儿为低体重早产儿（孕龄34周，出生体重1100克）。长骨X线片显示出生时及出生16天时干骺端增宽、模糊且呈杯口状。出生3天时，血清钙为8.2毫克/100毫升，磷为3.4毫克/100毫升，碱性磷酸酶（A.P）为323国际单位/毫升（正常范围小于或等于200）。出生16天时发现血清免疫反应性甲状旁腺激素（iPTH）水平极高，达295微当量/毫升（正常范围小于或等于50）。产后不久母体血浆25 - 羟胆钙化醇（25 - OH - CC）水平较低，为1.0纳克/毫升（正常范围：13.2±4.2），证明存在母体维生素D缺乏；6个月后该指标恢复正常（10.2纳克/毫升）。钙剂输注（15毫克/千克/3小时）导致血清iPTH显著下降（从280降至84微当量/毫升）。给予维生素D2（2400国际单位/天，共10天）使干骺端有一定程度愈合；碱性磷酸酶仍升高（400国际单位/毫升）；血浆25 - OH - CC正常，为10.2纳克/毫升，血清iPTH为115微当量/毫升。口服25 - OH - CC 10天（15微克/天）后，血浆25 - OH - CC升至64.5纳克/毫升，血清iPTH有轻微变化（94微当量/毫升）；骨骼X线片显示骨质疏松。这些结果提示25 - OH - CC向1,25 - (OH)2 - CC的转化减少。
