دورية أكاديمية
Simultaneous Onset of Pediatric Systemic Lupus Erythematosus in Twin Brothers: Case Report.
| العنوان: | Simultaneous Onset of Pediatric Systemic Lupus Erythematosus in Twin Brothers: Case Report. |
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| المؤلفون: | Raupov RK; 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.; City Hospital, Saint Petersburg, Russia., Suspitsin EN; N. N. Petrov Institute of Oncology, Molecular Diagnostics, Saint Petersburg, Russia.; Molecular Genetics Department, St. Petersburg State Pediatric Medical University, Saint Petersburg, Russia., Imelbaev AI; Radiology Department, St. Petersburg State Pediatric Medical University, Saint Petersburg, Russia., Kostik MM; Hospital Pediatry Department, St. Petersburg State Pediatric Medical University, Saint Petersburg, Russia. |
| المصدر: | Frontiers in pediatrics [Front Pediatr] 2022 Jun 16; Vol. 10, pp. 929358. Date of Electronic Publication: 2022 Jun 16 (Print Publication: 2022). |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne : Frontiers Media SA, [2013]- |
| مستخلص: | 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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2022 Raupov, Suspitsin, Imelbaev and Kostik.) |
| References: | J Rheumatol. 2018 Dec;45(12):1671-1679. (PMID: 30008451) Genomics. 2022 Mar 10;114(3):110332. (PMID: 35283196) Front Immunol. 2019 Mar 15;10:487. (PMID: 30930907) Curr Rheumatol Rep. 2020 Jun 16;22(7):32. (PMID: 32548765) BMC Musculoskelet Disord. 2014 Mar 06;15:67. (PMID: 24602337) Lupus Sci Med. 2019 Aug 13;6(1):e000270. (PMID: 31497305) BioDrugs. 2020 Apr;34(2):133-147. (PMID: 32002918) Curr Opin Immunol. 2017 Dec;49:87-95. (PMID: 29100097) Semin Arthritis Rheum. 2018 Feb;47(4):538-544. (PMID: 28755788) Lupus. 2011 Apr;20(5):537-43. (PMID: 21183559) Hum Genet. 2019 Feb;138(2):141-150. (PMID: 30707351) Arthritis Rheum. 1976 May-Jun;19(3):545-54. (PMID: 132937) Arthritis Rheumatol. 2018 Jun;70(6):878-890. (PMID: 29361205) Clin Exp Rheumatol. 2021 Jan-Feb;39(1):214-222. (PMID: 33337996) Pediatr Rheumatol Online J. 2019 Jul 30;17(1):52. (PMID: 31362757) Lupus. 2006;15(2):61-4. (PMID: 16539274) Arthritis Rheum. 1992 Apr;35(4):457-64. (PMID: 1567495) Mol Med Rep. 2018 Jun;17(6):8391-8396. (PMID: 29693174) |
| فهرسة مساهمة: | Keywords: IFN-signature; RNASEL; antiphospholipid syndrome; pediatric systemic lupus erythematosus; twins |
| تواريخ الأحداث: | Date Created: 20220705 Latest Revision: 20220716 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC9243501 |
| DOI: | 10.3389/fped.2022.929358 |
| PMID: | 35783307 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2296-2360 |
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| DOI: | 10.3389/fped.2022.929358 |