Cunniff C, Carmack J L, Kirby R S, Fiser D H
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, USA.
Pediatrics. 1995 May;95(5):678-81.
To determine the percentage of patients dying in the pediatric intensive care unit (PICU) who have heritable disorders and to compare vital statistics classification of underlying cause of death with underlying heritable disorder identified from medical record review.
Retrospective medical record review.
The PICU of a university-affiliated hospital.
Medical records were reviewed for all deaths occurring in the PICA over a 5-year period. Further review, including hospital course, clinical findings, and the presence or absence of a genetic evaluation, was accomplished for those patients found to have a chromosome abnormality, recognized syndrome, single major malformation, or unrecognized syndrome. Underlying cause of death classification obtained from the Center for Health Statistics, Arkansas Department of Health was reviewed to determine the frequency with which the underlying heritable disorder was recorded.
Fifty-one of 268 (19%) deaths during the study period were in patients with heritable disorders. Of these 51 patients, eight (16%) had chromosome abnormalities, 17 (33%) had a recognized syndrome, 15 (29%) had a single primary defect in development, and 11 (22%) had an unrecognized syndrome. Genetic evaluation was carried out on 45% of patients, with the frequency of evaluation differing between categories of patients with heritable conditions. When underlying cause of death from vital statistics classification was reviewed, 21 of 51 (41%) records did not include the underlying heritable disorder.
Heritable disorders are a frequent cause of mortality in the PICU. Vital statistics classification of underlying cause of death in this population often fails to identify heritable disorders, leading to an underascertainment of these conditions in mortality statistics. Improved cause of death classification procedures will be necessary to target public health interventions to etiology-specific populations.
确定在儿科重症监护病房（PICU）死亡的患有遗传性疾病的患者比例，并比较根据生命统计数据分类的根本死因与通过病历审查确定的潜在遗传性疾病。
回顾性病历审查。
一所大学附属医院的PICU。
对PICU在5年期间发生的所有死亡病例的病历进行审查。对于那些被发现有染色体异常、已确认综合征、单一主要畸形或未确认综合征的患者，进行进一步审查，包括住院过程、临床发现以及是否进行了基因评估。审查从阿肯色州卫生部卫生统计中心获得的根本死因分类，以确定潜在遗传性疾病的记录频率。
在研究期间的268例死亡病例中，有51例（19%）是患有遗传性疾病的患者。在这51例患者中，8例（16%）有染色体异常，17例（33%）有已确认综合征，15例（29%）有单一原发性发育缺陷，11例（22%）有未确认综合征。45%的患者进行了基因评估，不同遗传性疾病类别的患者评估频率有所不同。当审查生命统计分类中的根本死因时，51例记录中有21例（41%）未包括潜在遗传性疾病。
遗传性疾病是PICU中常见的死亡原因。该人群中根据生命统计数据分类的根本死因往往未能识别遗传性疾病，导致在死亡率统计中对这些情况的漏报。需要改进死因分类程序，以便针对特定病因人群开展公共卫生干预措施。
