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以色列的1型神经纤维瘤病:年轻成年人调查

Neurofibromatosis type 1 in Israel: survey of young adults.

作者信息

Garty B Z, Laor A, Danon Y L

机构信息

Department of Paediatrics, Children's Medical Centre of Israel, Petah Tiqva, Israel.

出版信息

J Med Genet. 1994 Nov;31(11):853-7. doi: 10.1136/jmg.31.11.853.

Abstract

Neurofibromatosis type 1 (NF1) (von Recklinghausen's disease) is one of the most common human autosomal dominant disorders. In a survey of 374440 17 year old Jewish recruits for military service, 390 cases of NF1 were discovered, with a prevalence of 1.04/1000 (0.94/1000 for males and 1.19/1000 for females), or two to five times the reported prevalence of this disease. NF1 was more common in youngsters whose parents were of North African and Asian origin (1.81/1000 and 0.95/1000, respectively) and less common in those of European and North American origin (0.64/1000). All these differences were statistically significant and may be partially explained by the more advanced parental age of the NF group (as suggested by the larger number of children in the North African and Asian families) or by founder effect or both. The height and weight of the NF1 subjects was significantly lower than those of the controls. The intelligence score of persons with NF1 was similar to that of the control group when corrected for gender and ethnic origin. No significant increase in epilepsy or mental illnesses was found. This study provides evidence of the high overall prevalence of NF1 among Jews in Israel, with significantly increased prevalence in certain ethnic groups.

摘要

1型神经纤维瘤病(NF1)(冯雷克林霍增氏病)是最常见的人类常染色体显性遗传病之一。在一项对374440名17岁犹太新兵的兵役调查中,发现了390例NF1病例,患病率为1.04/1000(男性为0.94/1000,女性为1.19/1000),是该疾病报告患病率的两到五倍。NF1在父母为北非和亚洲血统的年轻人中更为常见(分别为1.81/1000和0.95/1000),而在欧洲和北美血统的年轻人中则较少见(0.64/1000)。所有这些差异都具有统计学意义,部分原因可能是NF组父母年龄较大(如北非和亚洲家庭中孩子数量较多所示),或者是奠基者效应,或两者兼而有之。NF1患者的身高和体重显著低于对照组。校正性别和种族后,NF1患者的智力得分与对照组相似。未发现癫痫或精神疾病显著增加。这项研究提供了证据,表明以色列犹太人中NF1的总体患病率很高,在某些种族群体中患病率显著增加。

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