Division of Medical Genetics, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ward, Yokohama 232-8555, Japan.
Eur J Pediatr. 2012 Feb;171(2):301-5. doi: 10.1007/s00431-011-1534-2. Epub 2011 Jul 16.
Genetic disorders and birth defects account for a high percentage of the admissions in children's hospitals. Congenital malformations and chromosomal abnormalities are the most common causes of infant mortality. So their effects pose serious problems for perinatal health care in Japan, where the infant mortality is very low. This paper describes the reasons for admissions and hospitalization at the high-care unit (HCU) of a major tertiary children's referral center in Japan. We retrospectively reviewed 900 admission charts for the period 2007-2008 and found that genetic disorders and malformations accounted for a significant proportion of the cases requiring admission to the HCU. Further, the rate of recurrent admission was higher for patients with genetic disorders and malformations than for those with acquired, non-genetic conditions. Over the past 30 years, admissions attributed to genetic disorders and malformations has consistently impacted on children's hospital and patients with genetic disorders and malformations form a large part of this facility. These results reflect improvements in medical care for patients with genetic disorders and malformations and further highlight the large proportion of cases with genetic disorders, for which highly specialized management is required. Moreover, this study emphasizes the need for involvement of clinical geneticists in HCUs at children's hospitals.
遗传疾病和出生缺陷在儿童医院的住院病人中占很大比例。先天性畸形和染色体异常是婴儿死亡的最常见原因。因此，它们对日本围产期保健构成了严重威胁，日本的婴儿死亡率非常低。本文描述了日本一家主要的三级儿童医院的特护病房（HCU）收治病人的原因和住院情况。我们回顾性地分析了 2007-2008 年期间的 900 份入院记录，发现遗传疾病和畸形在需要入住 HCU 的病例中占很大比例。此外，遗传疾病和畸形患者的再次入院率高于获得性非遗传疾病患者。在过去的 30 年中，遗传疾病和畸形导致的入院率一直对儿童医院产生影响，患有遗传疾病和畸形的患者在该设施中占很大比例。这些结果反映了对遗传疾病患者的医疗护理的改善，并进一步强调了需要高度专业化管理的遗传疾病病例比例很大。此外，本研究强调了儿童医院的 HCU 需要临床遗传学家的参与。
