目的 探讨广州市病残儿疾病种类、构成顺位,为降低再生育二胎出生缺陷发生率,提出预防出生缺陷的措施,减少遗传性和非遗传性疾病的发生提供依据.方法 对广州市2005～2009年1 708例申请鉴定的病残儿资料进行审查和分析.结果 1 708例病残儿疾病类型分属17个系统,遗传性疾病46种,433例,占病残儿鉴定总数25.4％；非遗传性疾病279种,1 275例,占病残儿鉴定总数74.7％.其中非遗传性疾病以神经、眼耳鼻、其他、泌尿生殖系统、血液系统居前5位,占88.4％；遗传性疾病以多基因遗传病、常染色体隐性遗传病、染色体病、常染色体显性遗传病、X连锁隐性遗传病居前5位,占98.4％.病残儿病种构成顺位前5位依次是精神发育迟滞、脑性瘫痪、孤独症、先天性心脏病、癫痫,占44.8％.结论 要提高出生人口素质,避免出生缺陷患儿,必须普及优生优育知识,大力开展出生缺陷干预,积极倡导优生遗传检测.通过病残儿医学鉴定,对再生育夫妇提供优生指导.%Objectives To explore the kinds, construction and etiologies of diseases among disabled children in Guangzhou city, provide evidences for the reduction of birth defect incidences in second delivery, introduce preven tion measures for birth defects and decrease the occurrences of genetic and non-genetic diseases. Methods The med ical identification results of 1 708 disabled children from 2005 to 2009 in Guangzhou were analyzed. Results The disease types of 1 708 cases were belonged to 17 systems, 433 cases (25. 4%) were identified with hereditary disea ses (46 types), and 1 275 cases (74. 7%) were identified with non-hereditary diseases (279 types). Among non-he reditary diseases, the top 5 were Nervous system, Five sensory organs, Other diseases,Genitourinary system and Blood system, occupied the rate of 88. 4%. For the hereditary diseases, the top 5 were Polygenic disease, Autoso mal recessive genetic disease, Chromosomal disorder, Autosomal dominant genetic disease and X-linked recessive genetic disease, occupied the rate of 98. 4%. The top 5 of constituent ratios were Mental retardation, Cerebral Pal sy, Autism, Congenital heart disease and Epilepsy with the proportion of 44. 8%. Conclusions To improve the quality of the population born and prevent birth defects in children, we need to popularize knowledge of prenatal and postnatal care, vigorously carry out birth defects intervention and actively promote the prenatal genetic test. Ac cording to medical identification for children of disease and disability, this paper provides the re-birth Couples prena tal and postnatal guidance.
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