Rinat K Raupov1,2,3, Evgeny N Suspitsin4,5, Artur I Imelbaev6, Mikhail M Kostik1. 1. Hospital Pediatry Department, St. Petersburg State Pediatric Medical University, Saint Petersburg, Russia. 2. H. Turner National Medical Research Center for Children's Orthopedics and Trauma Surgery, Saint Petersburg, Russia. 3. City Hospital, Saint Petersburg, Russia. 4. N. N. Petrov Institute of Oncology, Molecular Diagnostics, Saint Petersburg, Russia. 5. Molecular Genetics Department, St. Petersburg State Pediatric Medical University, Saint Petersburg, Russia. 6. Radiology Department, St. Petersburg State Pediatric Medical University, Saint Petersburg, Russia.
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.
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.
Authors: S V Navarra; M I Ishimori; E A Uy; L Hamijoyo; J Sama; J A James; V M Holers; M H Weisman Journal: Lupus Date: 2010-12-23 Impact factor: 2.911
Authors: Lu Gan; Terrance P O'Hanlon; Aaron S Gordon; Lisa G Rider; Frederick W Miller; Peter D Burbelo Journal: BMC Musculoskelet Disord Date: 2014-03-06 Impact factor: 2.362