脆性X综合征的筛查、诊断和治疗

The screening,diagnosis and treatment of Fragile X Syndrome

目的为简化筛查标准，提高对脆性Ｘ综合征（ＦＲＡＸＡ）筛查、诊断和治疗能力。方法采用九条标准，智力低下、智力低下家族史、长脸、大（或突出）耳朵、注意力不集中及多动、孤独行为、通贯掌、巨睾和关节过度伸展。对 ２０８例可疑 ＦＲＡＸＡ（男 １９０例，女 １８例）的筛查进行回顾性分析。用 ＰＣＲ方法扩增（ＣＧＧ）ｎ 三核苷酸重复序列作筛查，用 ＰＣＲ－Ｓｏｕｔｈｅｒｎ杂交作诊断；用叶酸及早期干预进行治疗。结果用 ＰＣＲ－Ｓｏｕｔｈｅｒｎ杂交法诊断ＦＲＡＸＡ７例。分析通贯掌、巨睾及关节过度伸展在ＦＲＡＸＡ的筛查中出现的频率低，与诊断相关不甚密切，故采用简化的六项标准，如果评分≥６分，应作进一步检测；评分＜６分，６０％以上的病例可以除外ＦＲＡＸＡ，且不遗漏任何阳性病例。对６／７例用叶酸进行治疗，治疗有效，未发现副作用。结论 简化的六项标准明显提高了ＦＲＡＸＡ的临床筛查的阳性率；而ＩＣＲ方法快捷、简便，适用于ＦＲＡＸＡ的筛查。叶酸治疗此综合征有效。

Objective To determine whether a screening criteria could be develooped increase the proportion of positive test result and to study the screening diagnosis and treatment of fragile X syndrome.Methods Nine clinical characteristics from special pa- tient records of 190 male and 18 female abnormal children of fragile X testing were analyzed, including mental retardation,family history of mental retardation, elongated face,large or prominent ears, attention deficit hyperactivity disorder, autistic-like behavior,simian crease,macroorchidism and hyperextensible joints. The disease is screened with PCR-amplified to detect(CGG) n repeat sequences; Diagnosed with PCR-Southern hybridization treated by folio acid and early intervention.Result Seven cases were diagnosed with fragile X syndrome by PCR-sOUTHERN anslysis on PCR product.Among the nine characteristics. 3 of them (simian crease, macroorchidism and hyperextensible joints) were eliminated, because of low frequency and statistical insignificance.The remaining 6 criteria for requesting fragile X testing were used. If the scores were≥,further measurement was needed; If the score was<6,about over 60% cases of this test in our cases could have been eliminated clinically without missing any positive cases.six-sevens cases were treated with folic acid effectively without side effect.Conclusion Our simplified six-item clinical checklist,obviously increased the Proportion of cases with positive FREXA.The PCR method is fast,simple and useful in screening FRAXA.It is effective to treat FRAXA with folic acid.