Raupov Rinat K, Suspitsin Evgeny N, Imelbaev Artur I, Kostik Mikhail M
Hospital Pediatry Department, St. Petersburg State Pediatric Medical University, Saint Petersburg, Russia.
H. Turner National Medical Research Center for Children's Orthopedics and Trauma Surgery, Saint Petersburg, Russia.
Front Pediatr. 2022 Jun 16;10:929358. doi: 10.3389/fped.2022.929358. eCollection 2022.
There are hundreds of twin adult patients with systemic lupus erythematosus (SLE), but male children with SLE are rarely affected. Two monozygotic twin brothers developed SLE at the age of 11 years during 1 month. The index brother manifested with Henoch-Shonlein purpura, accompanied by ANA positivity, and later developed critical left femoral arterial stenosis with high levels of anti-dsDNA, antiphospholipid antibodies, hypocomplementemia, and Coombs-positive hemolytic anemia. At that time his twin brother had only identical autoimmune findings and developed clinical manifestation (myositis and fasciitis) a month later. Both twins had increased IFN-score and shared a heterozygous variant in the RNASEL gene. Index patients developed scalp rash and nephritis 6 months after their parents refused the treatment which has been lasted for 1 year after disease diagnostics.
The simultaneous onset of the pediatric SLE in the male twin is a very rare situation suspected monogenic origin of the disease. Further functional studies are required to confirm the causative role of the mutation.
有成百上千的成年双胞胎系统性红斑狼疮（SLE）患者，但患SLE的男童很少见。一对同卵双胞胎兄弟在11岁时的1个月内都患上了SLE。先发病的哥哥表现为过敏性紫癜，伴有抗核抗体阳性，后来发展为严重的左股动脉狭窄，同时抗双链DNA、抗磷脂抗体水平升高，补体减少，以及库姆斯试验阳性的溶血性贫血。当时他的双胞胎弟弟只有相同的自身免疫表现，1个月后出现了临床表现（肌炎和筋膜炎）。这对双胞胎的干扰素评分均升高，且在RNASEL基因中共享一个杂合变异。在疾病诊断后持续治疗1年，其父母拒绝治疗6个月后，先发病的患者出现了头皮皮疹和肾炎。
男性双胞胎同时患小儿SLE是一种非常罕见的情况，怀疑该病有单基因起源。需要进一步的功能研究来证实该突变的致病作用。
