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目的了解大庆市区内苯丙酮尿症的发病率,临床类型以及治疗情况。方法出生72h后喂高蛋白奶6次以上的新生儿,取足跟血共67477例,用荧光定量法测定血苯氨酸(Phe)水平,PKU患儿给予低Phe饮食。结果在67477例新生儿中检出Phe增高可疑者10例。经血清氨基酸分析,确诊PKU患者3例,均为典型PKU,发病率1/22492。PKU患儿经治疗后智力明显提高,临床各项指标恢复正常。结论大庆市区PKU发病率低于全国同等城市水平,对PKU采用的治疗方法适用,有效。
Objective To understand the incidence, clinical type and treatment of phenylketonuria in Daqing city. Methods Sixty-seven (77) and seventy-seven (74) heel-to-hematological hematopoietic children were fed with high-protein milk 72 hours after birth. Plasma Phe level was measured by fluorescence quantitative assay and low-Phe diet was given to children with PKU. Results In 67477 newborns, 10 cases of suspicious Phe were detected. Serum amino acid analysis, confirmed PKU patients in 3 cases, are typical PKU, the incidence of 1 / 24,492. After treatment, PKU children’s intelligence was significantly improved, the clinical indicators returned to normal. Conclusion The incidence of PKU in Daqing urban area is lower than that of the same city in China, which is valid and effective for the treatment of PKU.