Christianson A L, Viljoen D L, Winship W S, de la Rey M, van Rensburg E J
Department of Human Genetics and Developmental Biology, University of Pretoria.
S Afr Med J. 1998 Jun;88(6):711-4.
To assess clinically South African patients with the putative diagnosis of Prader-Willi syndrome (PWS) and confirm this diagnosis by DNA/molecular analysis.
Prospective, nationally based, combined clinical and laboratory study.
Thirty-seven patients with a putative diagnosis of PWS were examined by clinical geneticists. Only 13 (35.1%) of these patients had the diagnosis of PWS confirmed by molecular analysis, and all 13 PWS patients had positive scores using the PWS consensus diagnostic criteria of Holm et al. The clinical features of the remaining 24 (64.9%) non-PWS patients were analysed and 23 did not have the neonatal, infantile and childhood features necessary to warrant consideration of a diagnosis of PWS; neither did they obtain a positive score according to Holm et al.'s criteria.
PWS was confirmed in only 35% of South African patients with a putative PWS diagnosis, confirming that this condition is overdiagnosed and that the clinical diagnosis is difficult. Clinically, the diagnostic criteria of Holm et al. are of great assistance in making the diagnosis, but it remains essential to confirm the diagnosis by molecular analysis.
评估疑似普拉德-威利综合征（PWS）的南非患者，并通过DNA/分子分析确诊。
前瞻性、全国性的临床与实验室联合研究。
临床遗传学家对37例疑似PWS患者进行了检查。其中只有13例（35.1%）患者经分子分析确诊为PWS，且所有13例PWS患者根据霍尔姆等人的PWS共识诊断标准得分均为阳性。对其余24例（64.9%）非PWS患者的临床特征进行了分析，其中23例没有诊断PWS所需的新生儿期、婴儿期和儿童期特征；根据霍尔姆等人的标准，他们也未获得阳性得分。
在疑似PWS诊断的南非患者中，只有35%被确诊为PWS，证实这种疾病被过度诊断，且临床诊断困难。临床上，霍尔姆等人的诊断标准对诊断有很大帮助，但通过分子分析确诊仍然至关重要。
