Prevalence of lysosomal storage disorders
Prevalence of lysosomal storage disorders
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DOI：
10.1001/jama.281.3.249
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发表时间：
1999-01-20
影响因子：
120.7
通讯作者：
Carey, WF
中科院分区：
文献类型：
--
作者：
Meikle, PJ;Hopwood, JJ;Carey, WF
背景
溶酶体贮积症是一组至少包含41种在遗传学上不同、在生物化学上相关的遗传性疾病。单独来看，这些疾病被认为是罕见的，尽管在一些人群中已报道有较高的患病率。这些疾病对患者及其家庭是毁灭性的，并导致医疗保健系统大量资源的使用；然而，该问题的严重程度尚未明确界定。到目前为止，尚未对这组疾病的总体患病率进行过全面研究。
目的
确定澳大利亚人群中溶酶体贮积症单独及总体的患病率。
设计
回顾性病例研究。
地点
澳大利亚，1980年1月1日至1996年12月31日。
主要观察指标
溶酶体贮积症的酶学诊断。
结果
在545名个体中诊断出27种不同的溶酶体贮积症。患病率从戈谢病的每57000例活产1例到唾液酸贮积症的每420万例活产1例不等。27种疾病中有18种诊断病例超过10例。作为一组疾病，综合患病率为每7700例活产1例。在研究期间，溶酶体贮积症的临床诊断率或产前诊断率均无显著增加。
结论
单独来看，溶酶体贮积症是罕见的遗传性疾病。然而，作为一组疾病，它们相对常见，是澳大利亚一个重要的健康问题。
Context Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually. these disorders are con considered rare, although high prevalence values have been reported in some populations. These disorders are devastating for individuals and their families and result in considerable use of resources from health care systems; however, the magnitude of the problem is not well defined. To date, no comprehensive study has been performed on the prevalence of these disorders as a group.Objective To determine the prevalence of lysosomal storage disorders individually and as a group in the Australian population.Design Retrospective case studies.Setting Australia, from January 1, 1980, through December 31, 1996.Main Outcome Measure Enzymatic diagnosis of a lysosomal storage disorder.Results Twenty-seven different lysosomal storage disorders were diagnosed in 545 individuals. The prevalence ranged from 1 per 57 000 live births for Gaucher disease to 1 per 4.2 million live births for sialidosis. Eighteen of 27 disorders had more than 10 diagnosed cases. As a group of disorders, the combined prevalence was 1 per 7700 live births. There was no significant increase in the rate of either clinical diagnoses or prenatal diagnoses of lysosomal storage disorders during the study period.Conclusions Individually, lysosomal storage disorders are rare genetic diseases. However. as a group, they are relatively common and represent an important health problem in Australia.