白塞病中的遗传早现
Genetic anticipation in Behçet's syndrome.
作者信息
Fresko I, Soy M, Hamuryudan V, Yurdakul S, Yavuz S, Tümer Z, Yazici H
机构信息
Department of Medicine, Cerrahpaşa Medical School, Istanbul, Turkey.
出版信息
Ann Rheum Dis. 1998 Jan;57(1):45-8. doi: 10.1136/ard.57.1.45.
OBJECTIVE
To examine the presence of genetic anticipation in families with Behçet's syndrome (BS).
METHODS
A total of 18 families with 40 affected members in two successive generations were evaluated by interviewing them for their ages at the onset of the first symptom of BS and for their ages at the time they fulfilled the diagnostic criteria.
RESULTS
It was noted that the age of onset of the first symptom was lower in the second generation in 14 families (p = 0.01) with a mean (SD) age of 20.57 (7.47) years in the children compared with 33.29 (9.92) years in the parents (t = 7.79, p < 0.0001), whereas the diagnostic criteria were fulfilled at an earlier age in the children in 15 families (p = 0.01) with a mean age of 21.2 (6.74) years in the children compared with 36.4 (9.55) years in the parents (t = 7.41, p < 0.0001).
CONCLUSION
Genetic anticipation was present in 15 of 18 (84%) of the families with BS in the form of earlier disease onset in the children compared with their parents.
目的
研究白塞病（BS）家族中遗传早现现象的存在情况。
方法
通过询问18个家族中40名两代连续受累成员出现BS首个症状时的年龄以及达到诊断标准时的年龄，对这些家族进行评估。
结果
在14个家族中，第二代出现首个症状的年龄更低（p = 0.01），子女的平均（标准差）年龄为20.57（7.47）岁，而父母为33.29（9.92）岁（t = 7.79，p < 0.0001）；在15个家族中，子女达到诊断标准的年龄更早（p = 0.01），子女的平均年龄为21.2（6.74）岁，而父母为36.4（9.55）岁（t = 7.41，p < 0.0001）。
结论
在18个BS家族中的15个（84%）存在遗传早现现象，表现为子女相比父母疾病发病更早。
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