Decreased bone mineralization in children with phenylketonuria under treatment
Decreased bone mineralization in children with phenylketonuria under treatment
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DOI：
10.1007/pl00014234
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发表时间：
1996-07-01
影响因子：
3.6
通讯作者：
Hillman, R
中科院分区：
文献类型：
--
作者：
Hillman, L;Schlotzhauer, C;Hillman, R
患有苯丙酮尿症（PKU）的儿童从缺乏苯丙氨酸的合成元素配方中获得大量蛋白质和矿物质摄入量。为了评估这种饮食和/或疾病对骨矿化的影响，将患有PKU的儿童与正常儿童进行了矿物质稳态和骨矿化的许多参数比较。共有11例平均年龄为10.9 +/- 4.2岁的PKU患儿与一大组平均年龄为11.4 +/- 4.2岁的正常对照患儿进行了比较，其中年龄和性别匹配的患儿为11例。PKU患儿血清钙（9.1 +/- 0.9 vs 10.4 +/- 1.9 mg/dl, P < 0.01）和镁（1.67 +/- 1.4 vs 2.07 +/- 0.16 mg/dl, P < 0.001）较低，但磷、锌、铜正常。PKU的磷管重吸收率增加（93 +/- 3% vs 88 +/- 6%, P < 0.05），表明PKU的磷摄入量和/或吸收率降低。PKU患儿血清25-羟基维生素D、甲状旁腺激素、1,25二羟基维生素D水平与对照组相似。双能x线吸收血清白蛋白和瘦体质量无差异，提示蛋白质摄入充足。经配对t检验，11对患者腰椎骨密度下降（0.61 +/- 0.15 vs 0.72 +/- 0.24 P < 0.05），下肢骨密度下降（1.56 +/- 0.30 vs 1.87 +/- 0.56 P < 0.05）。与总对照组和配对对照组相比，骨形成标志物减少；骨碱性磷酸酶（72 +/- 30 vs 126 +/- 43 P < 0.001）、骨钙素（10.7 +/- 3.4 vs 13.1 +/- 2.0 P < 0.05）和前胶原I型羧基末端前肽。骨吸收标志物酒石酸盐抗性酸性磷酸酶和尿Ca/Cr无差异。经年龄校正后，所记录的变化与血清苯丙氨酸水平、蛋白质摄入量或矿物质摄入量无关。目前尚不清楚骨矿化缺陷是否与疾病过程本身或治疗有关。
Children with phenylketonuria (PKU) obtain a great deal of their protein and mineral intakes from synthetic elemental formulae devoid of phenylalanine. To assess the effect of such diets and/or the disease on bone mineralization, children with PKU were compared to normal children for many parameters of mineral homeostasis and bone mineralization. A total of 11 children with PKU of mean age 10.9 +/- 4.2 years were compared to a large group of normal control children mean age 11.4 +/- 4.2, and an age and sex matched subset (n = 11). Children with PKU had lower serum calcium (9.1 +/- 0.9 vs 10.4 +/- 1.9 mg/dl P < 0.01) and magnesium (1.67 +/- 1.4 vs 2.07 +/- 0.16 mg/dl, P < 0.001) but normal values for phosphorus, zinc, and copper. The percentage tubular reabsorption of phosphorus was increased in PKU (93 +/- 3% vs 88 +/- 6%, P < 0.05) suggesting a lower phosphorus intake and/or absorption. Serum 25-hydroxyvitamin D, parathyroid hormone and 1,25 dihydroxyvitamin D were similar in PKU and control children. Serum albumin and lean body mass by dual energy X-ray absorption were not different suggesting that protein intake was adequate. In the 11 pairs, a decreased bone mineral density was seen for the lumbar spine (0.61 +/- 0.15 vs 0.72 +/- 0.24 P < 0.05), and lower extremities (1.56 +/- 0.30 vs 1.87 +/- 0.56 P < 0.05) by paired t-test. Compared to the total controls and the paired controls, decreases were seen in markers of bone formation; bone alkaline phosphatase, (72 +/- 30 vs 126 +/- 43 P < 0.001), osteocalcin (10.7 +/- 3.4 vs 13.1 +/- 2.0 P < 0.05) and procollagen type I carboxyterminal propeptide. No differences were seen in the bone resorption markers tartrate resistant acid phosphatase and urine Ca/Cr. The changes noted could not be related after age correction to serum phenylalanine levels, protein intake, or mineral intakes. It is unclear whether deficits in bone mineralization relate to the disease process itself or its treatment.