天冬氨酰葡糖胺尿症基因突变携带者与慢性关节炎。
Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis.
作者信息
Arvio M, Laiho K, Kauppi M, Peippo M, Leino P, Kautiainen H, Kaipiainen-Seppänen O, Mononen I
机构信息
The Pääjärvi Centre, Lammi, Department of Pediatric Neurology, Tampere University Hospital, Finland.
出版信息
Ann Rheum Dis. 2002 Feb;61(2):180-1. doi: 10.1136/ard.61.2.180.
OBJECTIVE
To ascertain whether being a carrier of an autosomal recessive disease, aspartylglucosaminuria (AGU), predisposes to chronic arthritis, as does AGU disease.
METHODS
A group of 173 unrelated patients with rheumatoid arthritis (RA) but with no family members with AGU each gave a blood sample for AGUFin major mutation DNA analysis. A group of 131 AGU carriers who were parents of patients with AGU completed a questionnaire on joint symptoms and gave a blood sample for rheumatoid factor (RF) analysis. Eight RF positive parents with prolonged joint symptoms had a rheumatological evaluation.
RESULTS
Six patients (1/28) with RA were carriers of the AGUFin major mutation, whereas the carrier frequency among Finns in general is 1/50 to 1/85. Three AGU carriers had chronic arthritis (2.3%), and 17 (13%) were RF positive; the respective percentages among Finns in general are 1.4% and 5%.
CONCLUSION
As for AGU disease, carrier status may also predispose to chronic arthritis.
目的
确定作为常染色体隐性疾病——天冬氨酰葡糖胺尿症（AGU）的携带者，是否会像AGU疾病患者那样易患慢性关节炎。
方法
一组173名无AGU家族史的类风湿性关节炎（RA）患者各自提供血样用于AGUFin主要突变DNA分析。一组由131名AGU携带者（均为AGU患者的父母）完成了关于关节症状的问卷调查，并提供血样用于类风湿因子（RF）分析。8名有长期关节症状且RF呈阳性的父母接受了风湿病学评估。
结果
6名（1/28）RA患者是AGUFin主要突变的携带者，而芬兰人群体中的携带者频率一般为1/50至1/85。3名AGU携带者患有慢性关节炎（2.3%），17名（13%）RF呈阳性；芬兰人群体中的相应比例分别为1.4%和5%。
结论
与AGU疾病一样，携带者状态也可能易患慢性关节炎。
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