Carnevale A, Hernández M, Reyes R, Paz F, Sosa C
Am J Med Genet. 1985 Apr;20(4):665-75. doi: 10.1002/ajmg.1320200412.
A survey of 2,945 admissions to the National Institute of Pediatrics, México, was undertaken to document the frequency and burden of genetic disorders. Patients were classified into five categories: single gene disorders; chromosomal disorders; complex genetic etiology; unknown etiology, and nongenetic disorders. Of all admissions studied, 4.3% had a genetic disease (categories 1 and 2); 33.5% had a partly genetic condition (category 3); 13.8% had a disorder of unknown etiology; and 48.4% had an environmental disease. In terms of economic burden, patients with genetic or partly genetic disorders came more frequently from outside the city and had more and longer admissions with a higher number of surgeries. The results suggest that genetic disease, although less frequent than disease caused by environmental conditions, lays a considerable financial burden on the hospital and on the affected families. The need to create genetic units in developing countries is emphasized.
为记录遗传疾病的发生频率和负担,对墨西哥国立儿科学研究所的2945例入院病例进行了一项调查。患者被分为五类:单基因疾病;染色体疾病;复杂遗传病因;病因不明,以及非遗传疾病。在所有研究的入院病例中,4.3%患有遗传疾病(第1类和第2类);33.5%患有部分遗传疾病(第3类);13.8%患有病因不明的疾病;48.4%患有环境疾病。在经济负担方面,患有遗传或部分遗传疾病的患者更多来自城外,住院次数更多、时间更长,手术数量也更多。结果表明,遗传疾病虽然比环境因素导致的疾病发病率低,但给医院和受影响家庭带来了相当大的经济负担。强调了在发展中国家建立遗传科室的必要性。