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赖特综合征家族中的临床症状与HLA抗原

Clinical symptoms and HLA antigens in a family with Reiter's disease.

作者信息

Rantapää Dahlqvist S, Ström H, Bjelle A, Möller E

出版信息

Scand J Rheumatol. 1985;14(2):149-58. doi: 10.3109/03009748509165496.

Abstract

A clinical and immunogenetic study was performed on a three-generation family with Reiter's disease (RD). Twelve of 56 members of the family (33 clinically examined) including one in-law, had symptoms of arthritis, urethritis, conjunctivitis, uveitis, and/or mucocutaneous manifestations, but only one had the complete triad of Reiter's syndrome (RS). Radiographic sacro-iliitis was found in 7 individuals, and monoarticular onset was reported in 5 out of 7 with peripheral arthritis. HLA B27 was found in 26 of the 37 family members who were tissue typed (including one in-law). All individuals with RD were B27-positive. Seven different B27 phenotypes were identified. This finding suggests that RD is associated with the B27 antigen itself, and not to a gene closely linked to B27. From a pedigree analysis of this family an autosomal dominant inheritance with incomplete penetrance or multifactorial inheritance seemed the most probable alternatives. The family history is a useful adjunct in the diagnosis of RD.

摘要

对一个患赖特综合征(RD)的三代家族进行了临床和免疫遗传学研究。该家族56名成员中有12名(33名接受了临床检查,包括一名姻亲)出现关节炎、尿道炎、结膜炎、葡萄膜炎和/或黏膜皮肤表现的症状,但只有一人具备完整的赖特综合征(RS)三联征。7人发现有骶髂关节炎影像学表现,7例外周关节炎患者中有5例报告为单关节起病。在37名进行了组织分型的家族成员(包括一名姻亲)中,26人检测到HLA B27。所有患RD的个体均为B27阳性。鉴定出7种不同的B27表型。这一发现表明,RD与B27抗原本身相关,而非与紧密连锁于B27的基因相关。通过对该家族的系谱分析,常染色体显性遗传伴不完全外显或多因素遗传似乎是最可能的遗传方式。家族史对RD的诊断是一项有用的辅助手段。

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