4.5 Article

Simultaneous Onset of Pediatric Systemic Lupus Erythematosus in Twin Brothers: Case Report

期刊

FRONTIERS IN PEDIATRICS
卷 10, 期 -, 页码 -

出版社

FRONTIERS MEDIA SA
DOI: 10.3389/fped.2022.929358

关键词

pediatric systemic lupus erythematosus; twins; antiphospholipid syndrome; IFN-signature; RNASEL

资金

  1. RSF [20-45-01005]
  2. Russian Science Foundation [20-45-01005] Funding Source: Russian Science Foundation

向作者/读者索取更多资源

This is a rare case report of twin boys simultaneously developing systemic lupus erythematosus (SLE). The brothers, who are monozygotic twins, developed different autoimmune symptoms at the age of 11. This situation may involve a monogenic origin of the disease. Further research is needed to confirm the causative role of the mutation.
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. ConclusionThe 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.

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