结节性硬化症中癫痫发作和智力迟钝的发病率
On the incidence of fits and mental retardation in tuberous sclerosis.
作者信息
Webb D W, Fryer A E, Osborne J P
机构信息
Bath Unit for Research into Paediatrics, Royal United Hospital, Avon.
出版信息
J Med Genet. 1991 Jun;28(6):395-7. doi: 10.1136/jmg.28.6.395.
OBJECTIVES
To establish the frequency of fits and mental retardation in an unbiased group of tuberous sclerosis patients.
METHODS
Known tuberous sclerosis families with more than one affected person were ascertained for a genetic linkage study. A number of members were born after genetic counselling had been given after identification of the proband. These subjects were then carefully examined clinically and in many cases with cranial computerised tomography, renal ultrasound, and skeletal survey but not echocardiography. They provide an unbiased group of tuberous sclerosis patients and allow affected patients with normal intellect to be diagnosed.
PATIENTS
Thirty-seven tuberous sclerosis families were ascertained and 26 patients born after the family proband were identified.
RESULTS
Sixteen of these 26 patients suffered fits (62%) and 10 patients were mentally retarded (38%).
CONCLUSIONS
A lower incidence of fits and mental retardation has been found in an unbiased sample of tuberous sclerosis patients. The lifetime risk for fits might be higher had we been able to follow the patients for longer. However, we believe these are more appropriate figures to use in genetic counselling for this disease.
目的
在一组无偏倚的结节性硬化症患者中确定癫痫发作和智力迟钝的发生率。
方法
确定多个成员受累的已知结节性硬化症家族用于基因连锁研究。在先证者确诊后进行遗传咨询，之后有多名成员出生。然后对这些受试者进行仔细的临床检查，许多病例还进行了头颅计算机断层扫描、肾脏超声检查和骨骼检查，但未进行超声心动图检查。他们构成了一组无偏倚的结节性硬化症患者，使智力正常的受累患者得以确诊。
患者
确定了37个结节性硬化症家族，识别出26名在家系先证者之后出生的患者。
结果
这26名患者中有16名出现癫痫发作（62%），10名智力迟钝（38%）。
结论
在一组无偏倚的结节性硬化症患者样本中，癫痫发作和智力迟钝的发生率较低。如果我们能对患者进行更长时间的随访，癫痫发作的终生风险可能会更高。然而，我们认为这些数据更适合用于该疾病的遗传咨询。
Zotero 插件