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Simultaneous Onset of Pediatric Systemic Lupus Erythematosus in Twin Brothers: Case Report
Rinat K Raupov1,2,3, Evgeny N Suspitsin4,5, Artur I Imelbaev6
1Hospital Pediatry Department, St. Petersburg State Pediatric Medical University, Saint Petersburg, Russia.
Insights
Pediatric Systemic Lupus Erythematosus (SLE) is rare in males. This study details two identical twin brothers who developed SLE simultaneously, suggesting a potential genetic link and monogenic origin.
Area of Science:
- Pediatric Rheumatology
- Genetics
- Immunology
Background:
- Systemic Lupus Erythematosus (SLE) is uncommon in male children.
- Monozygotic twins developing SLE simultaneously presents a rare clinical scenario.
Purpose of the Study:
- To investigate the simultaneous onset of pediatric SLE in identical twin brothers.
- To explore the potential monogenic origin of SLE in this rare case.
Main Methods:
- Clinical case study of two monozygotic twin brothers diagnosed with SLE.
- Analysis of autoimmune markers including ANA, anti-dsDNA, antiphospholipid antibodies, hypocomplementemia, and Coombs test.
- Assessment of Interferon (IFN) signature score.
- Genetic analysis to identify variants, specifically in the RNASEL gene.
Main Results:
- Both 11-year-old twin brothers developed SLE within a month of each other.
- The index twin presented with Henoch-Schonlein purpura, arterial stenosis, and hemolytic anemia.
- Both twins exhibited increased IFN-scores and shared a heterozygous variant in the RNASEL gene.
- Clinical manifestations included myositis, fasciitis, scalp rash, and nephritis.
Conclusions:
- The simultaneous onset of pediatric SLE in male twins suggests a possible monogenic etiology.
- The identified heterozygous variant in the RNASEL gene warrants further functional studies to confirm its causative role in SLE development.
Abstract:
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.
Conclusion:
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.
