Dye Danielle E, Brameld Kate J, Maxwell Susannah, Goldblatt Jack, O'Leary Peter
Office of Population Health Genomics, Health Department of Western Australia, 3rd Floor C Block, 189 Royal Street, East Perth, WA, 6004, Australia.
J Community Genet. 2011 Jun;2(2):81-90. doi: 10.1007/s12687-011-0043-3. Epub 2011 Mar 2.
Although the role of single gene and chromosomal disorders in pediatric illness has been recognized since the 1970s, there are few data describing the impact of these often severe disorders on the health of the adult population. In this study, we present population data describing the impact of single gene and chromosomal disorders on hospital admissions of patients aged 20 years and over in Western Australia between 2000 and 2006. The number, length, and cost of admissions were investigated and compared between disease categories and age groups and to hospital admissions for any reason. In total, 73,211 admissions and 8,032 patients were included in the study. The most costly disorders were cystic kidney disease, α-1 anti-trypsin deficiency, hemochromatosis, von Willebrand disease, and cystic fibrosis. Overall, patients with single gene and chromosomal disorders represented 0.5% of the patient population and were responsible for 1.9% of admissions and 1.5% of hospital costs. These data will enable informed provision of health care services for adults with single gene and chromosomal disorders in Australia.
尽管自20世纪70年代以来，单基因和染色体疾病在儿科疾病中的作用已得到认可，但很少有数据描述这些通常较为严重的疾病对成年人群健康的影响。在本研究中，我们展示了关于2000年至2006年期间西澳大利亚州单基因和染色体疾病对20岁及以上患者住院情况影响的人群数据。对不同疾病类别和年龄组之间以及与因任何原因住院的情况进行了住院次数、住院时长及费用的调查和比较。该研究共纳入了73211次住院和8032名患者。费用最高的疾病包括多囊肾病、α-1抗胰蛋白酶缺乏症、血色素沉着症、血管性血友病和囊性纤维化。总体而言，患有单基因和染色体疾病的患者占患者总数的0.5%，占住院次数的1.9%，占住院费用的1.5%。这些数据将有助于为澳大利亚患有单基因和染色体疾病的成年人提供明智的医疗保健服务。
