全科医疗中斑马病的患病率：来自奈梅亨连续发病登记的数据。
Prevalence of zebras in general practice: data from the Continuous Morbidity Registration Nijmegen.
作者信息
van de Laar Floris A, Bor Hans, van de Lisdonk Eloy H
机构信息
Department of General Practice, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
出版信息
Eur J Gen Pract. 2008;14 Suppl 1:44-6. doi: 10.1080/13814780802436176.
OBJECTIVE
To explore the prevalence of rare diseases in the Continuous Morbidity Registration (CMR) Nijmegen, and to discuss methodological difficulties in the study of rare diseases in general practice.
METHODS
We selected all diseases with a prevalence <0.5/1000 patients/year between 1986 and 2006 in the CMR, and we compared the results with rare diseases in the Orphanet database of rare diseases.
RESULTS
We retrieved 71 codes of rare diseases: 15 referred to trauma or intoxications; the remaining 51 could be subdivided into malignancies, specific infections, diseases of short duration, and chronic diseases. Twenty (36%) of these 56 diseases were also listed in the Orphanet database (mostly malignancies and chronic diseases).
CONCLUSION
Although in the literature emphasis is placed on rare chronic diseases, the general practitioner is also confronted with many rare diseases of shorter duration. The CMR is not yet feasible for studying diseases with an extremely low prevalence.
目的
探讨奈梅亨连续性发病登记系统（CMR）中罕见病的患病率，并讨论在全科医疗中研究罕见病的方法学困难。
方法
我们选取了1986年至2006年期间CMR中患病率<0.5/1000患者/年的所有疾病，并将结果与罕见病数据库Orphanet中的罕见病进行比较。
结果
我们检索到71种罕见病编码：15种涉及创伤或中毒；其余51种可细分为恶性肿瘤、特定感染、短期疾病和慢性病。这56种疾病中有20种（36%）也列在Orphanet数据库中（主要是恶性肿瘤和慢性病）。
结论
尽管文献中重点关注罕见慢性病，但全科医生也会遇到许多短期罕见病。CMR对于研究极低患病率的疾病尚不可行。
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