Internal Medicine Department, Carol Davila University of Medicine and Pharmacy, Dionisie Lupu Street 37, 020022, Bucharest S2, Romania.
Internal Medicine Department, Carol Davila Central University Emergency Military Hospital, Mircea Vulcanescu Street 88, 010825, Bucharest S2, Romania.
Rheumatol Int. 2018 Jul;38(7):1169-1178. doi: 10.1007/s00296-018-4059-4. Epub 2018 May 23.
Anti-U1-RNP positivity remains mandatory for the mixed connective tissue disease (MCTD) diagnosis, reason for which anti-U1-RNP occurrence in patients with lupus clinical features might determine diagnostic issues. Thus, the prevalence of 25-30% for anti-RNP was reported in John Hopkins and LUMINA lupus cohorts and also 13% prevalence for the anti-U1-RNP in Euro-Lupus cohort. Presence of anti-U1-RNP antibodies in patients fulfilling SLE criteria (but not the MCTD ones) was associated with manifestations such as Raynaud phenomenon, musculoskeletal and lung impairment or nail fold capillaroscopy changes, some clinical features frequently encountered in MCTD patients and only rarely described in lupus population. The use of more specific markers such as 70 kDa anti-U1-RNP or anti-Sm-D was proposed for discriminating between SLE and MCTD. In addition, the IgM serotype of anti-U1-RNP seems more frequently expressed in SLE, while the IgG serotype alone in MCTD. Better acknowledgement of possible clinical involvements in lupus subsets, such as the peculiarities related to the anti-U1-RNP positivity, could provide access to early diagnosis of rather rare but possible severe lupus organ impairments (e.g. pulmonary arterial hypertension).
抗 U1-RNP 阳性仍然是混合性结缔组织病(MCTD)诊断的必要条件,因此,在具有狼疮临床特征的患者中出现抗 U1-RNP 可能会导致诊断问题。因此,在约翰霍普金斯和 LUMINA 狼疮队列中,抗 RNP 的患病率为 25-30%,而在 Euro-Lupus 队列中,抗 U1-RNP 的患病率为 13%。在符合 SLE 标准(但不符合 MCTD 标准)的患者中存在抗 U1-RNP 抗体与雷诺现象、肌肉骨骼和肺部损害或甲襞毛细血管变化等表现相关,这些临床特征在 MCTD 患者中经常遇到,而在狼疮人群中很少描述。建议使用更特异的标志物,如 70 kDa 抗 U1-RNP 或抗 Sm-D,以区分 SLE 和 MCTD。此外,抗 U1-RNP 的 IgM 亚型似乎在 SLE 中更常表达,而 IgG 亚型则仅在 MCTD 中表达。更好地认识到狼疮亚组中可能存在的临床受累,如与抗 U1-RNP 阳性相关的特征,可能有助于早期诊断罕见但可能严重的狼疮器官损害(如肺动脉高压)。