Wang Kundi, Shen Ming, Li Honglei, Li Xiaowen, He Chun
, China-Japan Friendship Hospital.
.
J Pediatr Endocrinol Metab. 2017 May 24;30(6):651-656. doi: 10.1515/jpem-2016-0308.
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder. Dietary control of classic PKU needs restriction of natural proteins. The diet results in unbalanced nutrition, which might affect the physical development of the patients. Our aim was to evaluate bone mineral density (BMD) in children with PKU.
To investigate the BMD of children with PKU, 41 children with PKU and 64 healthy controls were recruited (all 3-4 years of age). Body weight and height, BMD, Phe blood levels, thyroid function, calcium, phosphorus, iron metabolism markers, and vitamin D3 were measured.
Body height and BMD of patients were lower than in controls. The BMD of controls was positively associated with age, body weight and height. In patients, BMD was positively associated with body weight. There was no correlation between Phe blood levels and BMD in patients. Blood levels of alkaline phosphatase were higher in patients compared to controls. Blood calcium levels were higher in 4-year-old patients, while the body weight was lower compared to controls. Thyroid function, iron metabolism markers, vitamin D3 levels and IGF-1 levels were normal.
Reduced BMD was observed in children with phenylketonuria, but the exact reasons for this remain to be elucidated.
苯丙酮尿症（PKU）是一种常染色体隐性代谢紊乱疾病。经典型苯丙酮尿症的饮食控制需要限制天然蛋白质的摄入。这种饮食会导致营养不均衡，可能影响患者的身体发育。我们的目的是评估苯丙酮尿症患儿的骨密度（BMD）。
为了研究苯丙酮尿症患儿的骨密度，招募了41名苯丙酮尿症患儿和64名健康对照儿童（均为3 - 4岁）。测量了体重、身高、骨密度、血苯丙氨酸水平、甲状腺功能、钙、磷、铁代谢标志物以及维生素D3。
患者的身高和骨密度低于对照组。对照组的骨密度与年龄、体重和身高呈正相关。在患者中，骨密度与体重呈正相关。患者的血苯丙氨酸水平与骨密度之间无相关性。与对照组相比，患者的碱性磷酸酶血水平更高。4岁患者的血钙水平更高，而体重低于对照组。甲状腺功能、铁代谢标志物、维生素D3水平和IGF - 1水平均正常。
观察到苯丙酮尿症患儿的骨密度降低，但其确切原因仍有待阐明。
