A GENETIC-STUDY OF VONRECKLINGHAUSEN NEUROFIBROMATOSIS IN SOUTH EAST WALES .2. GUIDELINES FOR GENETIC-COUNSELING
A GENETIC-STUDY OF VONRECKLINGHAUSEN NEUROFIBROMATOSIS IN SOUTH EAST WALES .2. GUIDELINES FOR GENETIC-COUNSELING
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DOI：
10.1136/jmg.26.11.712
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发表时间：
1989-11-01
影响因子：
4
通讯作者：
HARPER, PS
中科院分区：
文献类型：
--
作者：
HUSON, SM;COMPSTON, DAS;HARPER, PS
本文对来自73个家系的168例vonRecklinghausen型神经纤维瘤病（NF-1）的发病年龄和主要特征的诊断价值进行了研究。在评估受影响患者的子女时，可以根据5岁时是否存在咖啡Au lait（CAL）斑点，将那些遗传了该基因的人与他们的正常同胞区分开来。Lisch结节出现在皮肤神经纤维瘤之前，是评估不寻常病例、诊断不明确的病例和有多个CAL斑点但无NF-1家族史的儿童的有用临床辅助手段。69个家庭是通过在威尔士东南部进行的一项以人口为基础的研究确定的，来自这些家庭的135名受影响受试者的并发症频率被用来制定遗传咨询的数字。出于这些目的，NF-1的并发症可以有效地分为四类：智力障碍（33%）（中度/严重发育迟缓3.2%，轻度发育迟缓/学习困难29.8%）;儿童期出现并发症并导致终身患病（8.5%）;可在任何年龄发生的“可治疗”并发症（15.7%）;恶性或中枢神经系统肿瘤（4.4 - 5.2%）。
The age of appearance and diagnostic value of the major defining features of von Recklinghausen neurofibromatosis (NF-1) have been studied in 168 cases from 73 families. In assessing children of an affected patient, those who have inherited the gene can be distinguished from their normal sibs on the basis of whether or not cafe au lait (CAL) spots are present by the age of five years. Lisch nodules appear before cutaneous neurofibromas and are a useful clinical aid in the assessment of unusual cases, those in whom the diagnosis is equivocal, and children with multiple CAL spots but no family history of NF-1. Sixty-nine of the families were identified through a population based study in south east Wales and the frequency of complications in 135 affected subjects from these families has been used to develop figures for genetic counselling. For these purposes, the complications of NF-1 can be usefully divided into four categories: intellectual handicap (33%) (moderate/severe retardation 3.2%, minimal retardation/learning difficulties 29.8%); complications developing in childhood and causing lifelong morbidity (8.5%); ''treatable'' complications which can develop at any age (15.7%); and malignant or CNS tumors (4.4 to 5.2%).