Stevenson David A, Carey John C
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA.
Am J Med Genet A. 2004 May 1;126A(4):393-7. doi: 10.1002/ajmg.a.20409.
Malformations and genetic disorders are the leading cause of infant mortality in the US. Many malformations have a genetic basis due to genic, chromosomal, or multifactorial causation. We have studied the proportion of pediatric cases in a university-affiliated children's hospital that died of malformations and genetic disorders. We reviewed, retrospectively, deaths over a 4 year period (1994-1998) at Primary Children's Medical Center (PCMC), a university-affiliated tertiary children's referral hospital in Utah. The age at death and the cause of death were recorded for each case. We analyzed 523 cases; 180 (34.4%) deaths were due to malformations and genetic disorders. Of those 180, 30 (16.7%) had chromosome anomalies, 21 (11.7%) had a recognizable malformation syndrome, 118 (65.6%) had a malformation of unknown cause, and 11 (6.1%) had some other genetic disorder. One hundred and twenty-two (23.3%) deaths were due to trauma (accidental and non-accidental). Seventy-nine (15.1%) deaths were due to short gestation or perinatal complications. Forty-five (8.6%) deaths were due to an infectious disease and 45 (8.6%) from neoplasms. Thirteen (2.5%) were diagnosed for sudden infant death "syndrome." Twelve (2.3%) patients with malformations and/or genetic disorders died of an acquired condition not clearly related to the underlying disorder. Seven (1.3%) patients died of an unknown cause and 20 (3.8%) patients died of other specified conditions. In addition, 51.0% patients (age <1 year) died of a malformation and/or genetic disorder. Genetic disorders and malformations are a substantial cause of mortality in a referral pediatric hospital. Knowledge of the impact of genetic diseases on mortality is important for the integration of preventive measures and health care strategies to care effectively for patients and their families. This information emphasizes the importance of further study of whether or not early recognition influences mortality rate and management.
在美国，畸形和遗传疾病是婴儿死亡的主要原因。由于基因、染色体或多因素致病，许多畸形都有遗传基础。我们研究了一家大学附属医院中死于畸形和遗传疾病的儿科病例比例。我们回顾性地分析了犹他州一家大学附属三级儿童转诊医院—— Primary Children's Medical Center（PCMC）在1994年至1998年这4年期间的死亡病例。记录了每个病例的死亡年龄和死因。我们分析了523例病例；180例（34.4%）死亡是由畸形和遗传疾病导致的。在这180例中，30例（16.7%）有染色体异常，21例（11.7%）有可识别的畸形综合征，118例（65.6%）有不明原因的畸形，11例（6.1%）有其他遗传疾病。122例（23.3%）死亡是由创伤（意外和非意外）导致的。79例（15.1%）死亡是由于早产或围产期并发症。45例（8.6%）死亡是由传染病导致的，45例（8.6%）是由肿瘤导致的。13例（2.5%）被诊断为婴儿猝死“综合征”。12例（2.3%）患有畸形和/或遗传疾病的患者死于与潜在疾病无明显关联的后天疾病。7例（1.3%）患者死因不明，20例（3.8%）患者死于其他特定疾病。此外，51.0%的患者（年龄<1岁）死于畸形和/或遗传疾病。在一家转诊儿科医院中，遗传疾病和畸形是死亡的重要原因。了解遗传疾病对死亡率的影响对于整合预防措施和医疗保健策略以有效照顾患者及其家庭很重要。这些信息强调了进一步研究早期识别是否会影响死亡率和治疗的重要性。
