【摘要】 目的　研究苯丙酮尿症的骨骼X线表现。方法　搜集 37例苯丙酮尿症 ,男 2 5例 ,女12例 ,年龄 6个月至 9岁。所有病例均行手、腕和膝关节X线检查及实验室检查 ,2 5例行骨龄测量。结果　X线表现为受检部位未见异常者 6例 ,脱钙者 19例 ,干骺端呈轻度杯口状扩大、临时钙化带增厚 ,呈毛刷状 7例 ,骨年龄滞后 2 2例。特殊改变包括骨干条纹状改变 (12例 )和干骺端呈鸟嘴状突起(2 1例 )。结论　苯丙酮尿症特殊的骨骼改变是诊断该病的重要X线征象 ,骨骼改变的机理至今尚未明了。更多还原

【Abstract】 Objective To report the bone X ray changes in phenylketonuria. Methods Thirty seven cases of phenylketonuria were reported. Among the 37 cases, 25 were males and 12 were fema1es. The age of this series ranged from 6 months to 9 years. X ray examination of the hands, wrists, and knees, and laboratory examination were performed in all cases. Results The bone changes of the 37 cases were divided into 6 groups: no abnormal findings, osteoporosis, metaphyseal changes, special changes, the bone age method, and miscellaneous changes. Special changes included striations into the diaphysis (12 cases) and beaking of the metaphyseal margin (21 cases). Conclusion The mechamism causing the bone changes in phenylketonuria is not quite clear. The authors conclude that specific bone changes may be important X ray signs suggestive of phenylketonuria.更多还原