Ernst Linda M, Sondheimer Neal, Deardorff Matthew A, Bennett Michael J, Pawel Bruce R
Department of Pathology, Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
J Pediatr. 2006 Jun;148(6):779-83. doi: 10.1016/j.jpeds.2006.01.040.
To determine the utility of the metabolic autopsy in the hospitalized pediatric patient.
This was a retrospective review of all metabolic autopsies performed at a large pediatric hospital over a 5-year period. Premortem clinical diagnoses were correlated with autopsy findings and results of postmortem testing.
Of the 23 metabolic autopsies performed, a metabolic disorder was diagnosed before death in 4 and after death by extensive studies initiated before death in 2. In the remaining 17 cases, postmortem samples were inadequate for subsequent enzymatic analysis in 2, a nonmetabolic explanation for symptoms was identified in 4, and no unifying diagnosis could be defined in 8. A metabolic disorder was diagnosed by postmortem tissue study in 3 of the 17 cases; in all 3 of these cases the patient died in the neonatal period after limited premortem investigation for primary lactic acidosis. For the 8 subjects who had undergone an extensive laboratory workup before death, in each case metabolic autopsy failed to establish a diagnosis.
In a small but significant percentage of cases (18%), the metabolic autopsy successfully identified an undiagnosed metabolic disease. However, metabolic autopsy following an extensive nondiagnostic clinical workup is unlikely to yield a specific metabolic diagnosis.
确定代谢性尸检在住院儿科患者中的作用。
这是一项对一家大型儿科医院在5年期间进行的所有代谢性尸检的回顾性研究。生前临床诊断与尸检结果及死后检测结果相关联。
在进行的23例代谢性尸检中，4例在死亡前被诊断出患有代谢紊乱，2例在死亡前通过广泛研究在死后被诊断出患有代谢紊乱。在其余17例中，2例死后样本不足以进行后续酶分析，4例确定了症状的非代谢性解释，8例无法确定统一诊断。17例中有3例通过死后组织研究诊断出代谢紊乱；在所有这3例中，患者在新生儿期死亡，生前对原发性乳酸性酸中毒的调查有限。对于8例在死亡前接受了广泛实验室检查的受试者，在每种情况下代谢性尸检均未能确诊。
在一小部分但相当比例的病例（18%）中，代谢性尸检成功识别出未确诊的代谢性疾病。然而，在进行广泛的非诊断性临床检查后进行代谢性尸检不太可能得出特定的代谢性诊断。
