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遗传性疾病是因染色体异常和某些酶的缺陷或基因突变等引起的危害儿童健康和影响人口素质的一类疾病。回顾调查小儿遗传性疾病的住院概况,可间接了解这类疾病在儿童中的患病情况,为防治工作提供信息。广西都安地区1982年～1994年间住院小儿18283例,现将其中遗传性疾病547例(3.0％)临床流行病学及其45例随访调查报告如下。1 调查资料本组小儿遗传性疾病547例中,男369例,女178例。年龄3天～14岁,其中0～3岁381例(69.5％)。壮族383例,瑶族158例,其他民族6例。地中海贫血(地贫)285例(52.1％);红细胞6-磷酸葡萄糖脱氢酶(G6PD)缺陷症245例(44.8％);地贫与G6PD缺陷症并存57例,先天愚型42例、唇裂10例、血友病8例、糖原累积症5例,进行性肌营养不良、苯丙酮尿症、粘多
Hereditary diseases are diseases that endanger the health of children and affect the quality of the population due to chromosomal abnormalities and the defects of certain enzymes or gene mutations. Recalling the general situation of pediatric hereditary diseases survey, you can indirectly understand the prevalence of such diseases in children, provide information for prevention and control work. Guangxi Du’an district hospital from 1982 to 1994, 18283 cases, of which now 547 cases of genetic diseases (3.0%) clinical epidemiology and follow-up survey of 45 cases are as follows. 1 survey data 547 cases of pediatric hereditary diseases, male 369 cases, 178 females. Age 3 days to 14 years, of which 381 cases (69.5%) were 0-3 years old. 383 Zhuang nationality, 158 Yao nationality and 6 other ethnic groups. 285 (44.8%) cases of G6PD deficiency in erythrocytes, 57 cases of thalassemia and G6PD deficiency, 42 cases of Down’s syndrome, 10 cases, 8 cases of haemophilia, 5 cases of glycogenosis, progressive muscular dystrophy, phenylketonuria, sticky and more