农村已婚育龄妇女PKU高危人群的选择性筛查.docVIP

农村已婚育龄妇女PKU高危人群的选择性筛查 【关键词】苯丙酮尿症 P style=TEXT-INDENT: 24px align=left【摘要】 目的 提出农村地区育龄妇女PKU选择性筛查的观点并开展预试验。方法 在某县农村地区对23118例22～55岁已婚已育妇女选择性筛查苯丙酮尿症（PKU），共567例妇女界定为“PKU高危妇女”，左手无名指采1滴血于特制滤纸上，行Guthrie细菌抑制试验，血斑中苯丙氨酸浓度连续两次测定0.24mmol/L（4mg/dl）者，采用氨基酸自动分析仪测定血清苯丙氨酸和酪氨酸浓度。结果 共确诊1例经典型PKU患者，存活的2名子女Wechsler成人智力量表测定的智商分别为50和48;确诊1例高苯丙氨酸血症患者，智力低下，自然流产1次，1名子女Gesell发育量表测定的发育商为48。2例PKU妇女均通过自己智力低下且生育过智力低下子女的途径被筛查。结论 选择性筛查可发现PKU育龄妇女，有限的资料显示，母亲PKU对生殖健康和子女的智能发育有不良影响。今后应扩大研究样本，评价PKU高危育龄妇女选择性筛查的有效性，探讨适合我国国情的控制育龄妇女PKU生殖健康危害的策略。P style=TEXT-INDENT: 24px关键词 苯丙酮尿症 母源性 生殖健康 结局 妊娠P style=TEXT-INDENT: 24px align=centerThe selective screening on married women of childbearingP style=TEXT-INDENT: 24px align=centerage with high-risk of PKU in rural areaP style=TEXT-INDENT: 24px align=centerTao Fangbiao，Zhang Hongbo，Zeng Guangyu，et al.P style=TEXT-INDENT: 24px align=centerDepartment of MaternalChild Health，Anhui Medical University，Hefei230032.P style=TEXT-INDENT: 24px【Abstract】 Objective To report on a view of the selective screening on married women of childbearing age in rural area，and to put the pilot investigation into identification and management of maternal phenylketonuria（PKU）.Methods Among23118rural married women aged22～45，567were considered as women with high-risk of PKU.Blood of the ring finger was dried on the special filter paper，and plasma phenlylalnine（Phe）levels were determined by bacterial inhibition assay（Guthrie test）.The women whose plasma Phe levels were over0.24mmol/L（4mg/dl）once again，was measured the blood serum Phe and tyramine（Tyr）concentration by a mino acid auto-analyzer.Results One woman，49years old，whose intelligence quotient（IQ）was61，was classic PKU，IQ of her two sons were50and48tested by Chines Wechsler Adult Intelligence Scale（C-WAIS）.One woman，aged26whose IQwas59，was diagnosed as mild hyperphenylalaninemia，and had a spontaneous abortion.Developmental quotient of the woman’s daughter was48evaluated by Gesell Developmental Scale.Conclusion The seletive screening can find