Poggi F, Rabier D, Vassault A, Charpentier C, Kamoun P, Saudubray J M
Département de pédiatrie, hôpital Necker-Enfants-Malades, Paris, France.
Arch Pediatr. 1994 Jul;1(7):667-73.
The authors describe a laboratory investigations protocol to be used by pediatricians facing conditions suggestive of inherited metabolic disorders. This protocol includes: 1) an emergency screening to be systematically performed during the acute clinical phase; 2) samplings to be kept frozen for possible secondary specific investigations according to the results of the emergency screening. In addition a perimortem protocol is also presented, to be applied in every lethal situations in which an inherited metabolic disorder is suspected. The equipment required in order for the clinician to properly perform the different investigations is also described.
作者描述了一种实验室调查方案，供面对疑似遗传性代谢紊乱病症的儿科医生使用。该方案包括：1）在急性临床阶段系统地进行的紧急筛查；2）根据紧急筛查结果保存冷冻样本，以备可能的二次特异性检查。此外，还提出了一种临终前方案，适用于怀疑患有遗传性代谢紊乱的所有致命情况。文中还描述了临床医生正确进行不同检查所需的设备。
