Rheumatoid arthritis in an adult patient with mosaic distal 18 q-, 18 p-and dicentric ring chromosome 18 [ version 1 ; peer review : 2 approved with reservations ]
Rheumatoid arthritis in an adult patient with mosaic distal 18 q-, 18 p-and dicentric ring chromosome 18 [ version 1 ; peer review : 2 approved with reservations ]
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一名成年患者患有类风湿性关节炎，其 18 号染色体远端镶嵌有 18 q-、18 p-和双着丝粒环 [版本 1；
DOI：
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发表时间：
2019
期刊：
影响因子：
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通讯作者：
Arora
中科院分区：
文献类型：
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作者：
Ramesh;Jagannath;Arora
18号环形染色体具有高度可变的表型，具体取决于远臂缺失的程度。它最常见的表现为18 p和远端18 q综合征的组合。伊加缺乏症和自身免疫性疾病先前已在这些患者中描述。本文报告7例幼年类风湿性关节炎（JRA）。我们报告了一例迟发性类风湿性关节炎（RA），患者为32岁多米尼加女性，伴有甲状腺功能减退、白癜风、伊加缺乏、间质性肺病（ILD）、囊性支气管扩张，其特征符合18 p和远端18 q综合征。比较基因组杂交分析显示del（18p11.21p11.32）、dup（18q11.21-q22.1）和del（18q22.1-q23）。染色体分析和荧光原位杂交显示了三个细胞系。一个细胞系被检测到具有双着丝粒环状染色体，另一个细胞系具有长臂的重复而没有短臂，最后一个长臂末端缺失18。在我们的患者中的多种自身免疫性发现进一步支持了18号染色体上的基因座在自身免疫性疾病表达中发挥作用的想法。18号染色体异常患者的迟发性RA和ILD是新发现，是该人群中需要注意的其他疾病。
Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal arm deletions. It is most commonly presented as a combination of 18pand distal 18qsyndrome. IgA deficiency and autoimmune diseases have been previously described in these patients. Seven cases of juvenile rheumatoid arthritis (JRA) have been reported. Here we report the first case of late onset rheumatoid arthritis (RA) in a 32 year old Dominican woman with hypothyroidism, vitiligo, IgA deficiency, interstitial lung disease (ILD), cystic bronchiectasis, and features consistent with 18pand distal 18q syndrome. Comparative genome hybridization analysis showed a del(18p11.21p11.32), dup(18q11.21-q22.1), and del(18q22.1-q23). Chromosomal analysis and fluorescence in situ hybridization showed three cell lines. One cell line was detected with a dicentric ring chromosome, another with duplication of the long arm and no short arm, and lastly a long arm terminal deletion of 18. The multiple autoimmune findings in our patient lends further support to the idea of loci on chromosome 18 playing a role in autoimmune disease expression. Late onset RA and ILD in a patient with chromosome 18 abnormalities are novel findings and are additional conditions to be aware of in this population.
类风湿性关节炎间质性肺疾病的发病率和死亡率：一项基于人群的研究。
影响因子：
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作者：
Bongartz, Tim;Nannini, Carlotta;Medina-Velasquez, Yimy F.;Achenbach, Sara J.;Crowson, Cynthia S.;Ryu, Jay H.;Vassallo, Robert;Gabriel, Sherine E.;Matteson, Eric L.
通讯作者：
Matteson, Eric L.