Buist N R
Metabolic Birth Defects Center, Oregon Health Sciences University, Portland 97201-3098, USA.
Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:100-8.
Asking physicians to diagnose and treat all varieties of inborn errors or metabolism, without access to an extensive and experienced laboratory, is rather like asking a surgeon to perform his job without a scalpel. Nonetheless, astute clinicians armed with knowledge of the clinical manifestations of these disorders and using some simple algorithms can achieve considerable success although it should be said that tentative and unconfirmed diagnoses can be dangerous both for the patient and for use in genetic counseling. For these reasons it seems critical that areas of the world, such as Southeast Asia, where many of the countries have sophisticated medical systems, should develop regional services which can provide the contemporary procedures critical for accurate diagnosis of inborn errors of metabolism. In either case, the financial costs are substantial (Table 12).
要求医生在没有广泛且经验丰富的实验室支持的情况下诊断和治疗所有类型的先天性代谢缺陷，这无异于要求外科医生在没有手术刀的情况下开展工作。尽管如此，精明的临床医生凭借对这些疾病临床表现的了解并运用一些简单的算法，仍能取得相当大的成功。不过应该指出的是，初步的、未经证实的诊断对患者以及用于遗传咨询来说都可能是危险的。基于这些原因，对于世界上许多拥有先进医疗系统的地区，如东南亚，发展区域服务以提供对准确诊断先天性代谢缺陷至关重要的现代检测程序似乎至关重要。无论哪种情况，经济成本都相当高昂（表12）。
