Revista Colombiana de Reumatología (English Edition)最新文献

{"title":"Multidisciplinary clinical practice guideline for osteoporosis in Colombia: Evidence-based recommendations adapted to the national context","authors":"Geraldine Altamar-Canales ,&nbsp;Daniel G. Fernández-Ávila ,&nbsp;Miguel Ángel González-Reyes ,&nbsp;Francisco Bernardo Linares-Restrepo ,&nbsp;Adriana Medina-Orjuela ,&nbsp;Francisco Oscar Fernando Rosero-Olarte ,&nbsp;Javier Armando Velásquez-Mendoza ,&nbsp;Ximena Castro-Flórez ,&nbsp;Edgar Eduardo Castro-Osorio ,&nbsp;Monique Chalem ,&nbsp;Carlos Augusto Pérez-Niño ,&nbsp;Ariana Margarita Sierra-Osorio ,&nbsp;Regulo Andrés Vidal-Barragán ,&nbsp;Susan Martínez ,&nbsp;Linda Ibatá ,&nbsp;en representación de la Asociación Colombiana de Osteoporosis y Metabolismo Mineral (ACOMM)","doi":"10.1016/j.rcreue.2026.504840","DOIUrl":"10.1016/j.rcreue.2026.504840","url":null,"abstract":"<div><h3>Introduction</h3><div>Osteoporosis is a skeletal disease characterized by low bone mineral density and deterioration of bone microarchitecture, which increases the risk of fractures. Between 2012 and 2018, 249,803 cases of osteoporosis were reported in individuals over 50 years of age in Colombia, with the incidence of fragility fractures doubling between 2015 and 2019. Despite its clinical and economic impact, over 80% of patients do not receive adequate treatment.</div></div><div><h3>Objective</h3><div>To develop an evidence-based clinical practice guideline (CPG) to improve the diagnosis, treatment, and follow-up of osteoporosis in Colombia, in order to patient care and the use of healthcare resources.</div></div><div><h3>Methods</h3><div>A multidisciplinary panel was assembled, including clinical specialists, guideline development experts, and patient representatives. Systematic reviews were conducted using electronic databases to build the evidence base, with methodological quality and certainty of evidence assessed using the GRADE approach. The evidence-to-decision framework was used to formulate 32 recommendations and 14 good practice points.</div></div><div><h3>Results</h3><div>The recommendations include diagnosis by bone densitometry and FRAX®, non-pharmacological treatment involving adequate nutrition, vitamin D, dietary and supplemental calcium as required, exercise, and fall prevention. These interventions are integrated with pharmacological treatment, which is selected based on fracture risk and the need for sequential therapy with bisphosphonates, denosumab, or osteoanabolic agents. The importance of a multidisciplinary approach, therapeutic adherence, and implementing fracture liaison services is emphasized.</div></div><div><h3>Conclusions</h3><div>Osteoporosis is an underdiagnosed and undertreated public health issue in Colombia. Implementing this CPG will help improve detection, optimize treatment, and reduce the associated disease burden.</div></div>","PeriodicalId":101099,"journal":{"name":"Revista Colombiana de Reumatología (English Edition)","volume":"33 2","pages":"Article 504840"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148193277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of medications related to the management of osteoarthritis in Colombia: a descriptive cross-sectional study","authors":"Miguel Eduardo Rubio Toloza ,&nbsp;Manuel Enrique Machado Duque","doi":"10.1016/j.rcreue.2026.102182","DOIUrl":"10.1016/j.rcreue.2026.102182","url":null,"abstract":"<div><h3>Introduction</h3><div>The prevalence of osteoarthritis in the Colombian population is estimated at 10.8% and is associated with high health costs. The evaluation of the benefit/risk of the pharmacological treatment used is a fundamental aspect for all health professionals.</div></div><div><h3>Objective</h3><div>To identify the profile of medication use related to the management of osteoarthritis in adults over 50 years of age in Colombia in 2022 and with an unfavourable benefit-risk ratio.</div></div><div><h3>Methods</h3><div>A quantitative, descriptive, cross-sectional study, taking into account all prescription dispensations of patients over 50 years of age with a diagnosis of osteoarthritis, affiliated with the health plan of a Colombian insurer in 2022. The risk-benefit ratio was determined according to the Prescrire journal and the applicable STOPP criteria.</div></div><div><h3>Results</h3><div>A total of 18,824 patients were included, the median age found was 64 years. Of these, 74.8% were women. The prevalence of prescription of medications related to osteoarthritis was .4% of all affiliates for the year 2022 by said insurer. The most prescribed medication was acetaminophen/codeine in 46.5% of patient dispensations. A total of 64.2% of users were prescribed drugs with an unfavourable benefit-risk ratio according to the Prescrire journal and STOPP criteria.</div></div><div><h3>Conclusions</h3><div>A significant proportion of prescriptions related to the management of osteoarthritis identified in this study contain at least one drug with an unfavourable benefit-risk ratio. This finding highlights the need to reflect on the optimization of prescribing, especially considering the chronic nature of osteoarthritis.</div></div>","PeriodicalId":101099,"journal":{"name":"Revista Colombiana de Reumatología (English Edition)","volume":"33 2","pages":"Article 102182"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148193329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Asociación Colombiana de Reumatología - Asoreuma y Asociación Colombiana de Neumología y Cirugía de Tórax – Asoneumocito","authors":"Luis Javier Cajas ,&nbsp;Javier Leonardo Galindo ,&nbsp;Diana Gil ,&nbsp;Daniel G. Fernández-Ávila ,&nbsp;Yimy Medina ,&nbsp;Olga Milena García ,&nbsp;Ledys Blanquicett Barrios ,&nbsp;Rubén Darío Contreras ,&nbsp;Dolfus Santiago Romero ,&nbsp;Jorge Abella ,&nbsp;Ángela María Giraldo Montoya ,&nbsp;Sebastián Herrera ,&nbsp;July Vianneth Torres ,&nbsp;Ana Milena Callejas ,&nbsp;Andrés Ricardo Fernández Aldana ,&nbsp;Mauricio González García ,&nbsp;J. Guillermo López V. ,&nbsp;Carlos Eduardo Matiz ,&nbsp;Paul Méndez Patarroyo ,&nbsp;Uriel Panqueva ,&nbsp;Jorge Alberto Carrillo-Bayona","doi":"10.1016/j.rcreue.2026.504841","DOIUrl":"10.1016/j.rcreue.2026.504841","url":null,"abstract":"<div><h3>Objective</h3><div>To develop evidence-based recommendations for the screening, diagnosis, treatment, and follow-up of interstitial lung disease associated with systemic sclerosis (SSc-ILD) and rheumatoid arthritis (RA-ILD), applicable to current medical practice in Colombia.</div></div><div><h3>Methods</h3><div>A multidisciplinary team of rheumatologists, pulmonologists, and radiologists with expertise in interstitial lung diseases was convened by ASONEUMOCITO and ASOREUMA to develop national clinical practice guidelines for SSc-ILD and RA-ILD. Using standardized processes for evidence review and appraisal, and following the GRADE methodology, recommendations were formulated based on the balance of benefits and risks, patient values and preferences, equity, and resource use.</div></div><div><h3>Results</h3><div>A total of 55 recommendations were developed for SSc-ILD and RA-ILD. These recommendations cover screening and diagnosis via clinical evaluation, pulmonary function tests, and high-resolution computed tomography (HRCT) of the chest. The first-line treatment for SSc-ILD includes immunosuppressive agents, while the first-line treatment for RA-ILD includes conventional synthetic disease-modifying antirheumatic drugs (csDMARDs). Depending on patient characteristics and prior treatment exposure, these may be followed by biological agents, JAK inhibitors, or antifibrotic therapies. Other interventions, such as lung or bone marrow transplantation, oxygen therapy, pulmonary rehabilitation, and palliative care, are considered in specific clinical scenarios. Regular follow-up is essential to detect disease progression and guide timely therapeutic decisions.</div></div><div><h3>Conclusions</h3><div>These guidelines—Colombia’s first national recommendations for the management of SSc-ILD and RA-ILD—provide evidence-based guidance tailored to the country's healthcare context and available resources, aiming to promote comprehensive and high-quality care for patients affected by these conditions.</div></div>","PeriodicalId":101099,"journal":{"name":"Revista Colombiana de Reumatología (English Edition)","volume":"33 2","pages":"Article 504841"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148193399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fast-track diagnosis of giant cell arteritis using Doppler ultrasound in a patient with scalp necrosis","authors":"Juan David Vélez-Aguirre ,&nbsp;José David Puerta-Rojas ,&nbsp;Adriana Lucía Vanegas-García ,&nbsp;Carlos Horacio Muñoz-Vahos ,&nbsp;Maribel Plaza-Tenorio","doi":"10.1016/j.rcreue.2026.504880","DOIUrl":"10.1016/j.rcreue.2026.504880","url":null,"abstract":"<div><h3>Introduction</h3><div>Doppler ultrasound has gained significant value in different clinical scenarios. The European Alliance of Associations for Rheumatology suggests Doppler ultrasonography of temporal and axillary arteries as the method of choice to support the clinical diagnosis of giant cell arteritis (GCA).</div></div><div><h3>Clinical findings and interventions</h3><div>we present the case of an 88-year-old woman with typical symptoms of cranial GCA in whom the suspicion was confirmed using Doppler ultrasound of temporal and axillary arteries, which allowed immediate treatment.</div></div><div><h3>Conclusion</h3><div>Doppler ultrasound of temporal and axillary arteries constitutes the method of choice to support the diagnosis of cranial GCA due to its low cost, wide availability, real-time results, and high accuracy when compared to temporal artery biopsy, which is time-consuming and not exempt from complications.</div></div>","PeriodicalId":101099,"journal":{"name":"Revista Colombiana de Reumatología (English Edition)","volume":"33 2","pages":"Article 504880"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148193378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical practice guidelines in Latin America. The Colombian proposal","authors":"Jorge Rojas-Serrano","doi":"10.1016/j.rcreue.2026.504916","DOIUrl":"10.1016/j.rcreue.2026.504916","url":null,"abstract":"","PeriodicalId":101099,"journal":{"name":"Revista Colombiana de Reumatología (English Edition)","volume":"33 2","pages":"Article 504916"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148193333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integration of orphan/rare (ORD) diseases in local/territorial health plans in Colombia: A scoping review","authors":"Diego Andrés Vásquez Lesmes ,&nbsp;Lina María Acero Ruge ,&nbsp;Erwin Hernando Hernández Rincón ,&nbsp;Lina Paola Avella Pérez","doi":"10.1016/j.rcreue.2026.504862","DOIUrl":"10.1016/j.rcreue.2026.504862","url":null,"abstract":"<div><h3>Introduction</h3><div>Orphans/Rare diseases (ORD) in Colombia have a prevalence of 1 per 5000 persons. Globally, public policies have shown inefficacy. International efforts to raise awareness for these patients have progressed, but challenges persist in integrating them into local and territorial health plans in Colombia. Overcoming barriers in healthcare delivery and assessing the need for structural reforms are crucial.</div></div><div><h3>Objective</h3><div>To synthesize available evidence on the integration of ORD into local/territorial health plans in Colombia, providing a comprehensive view of the Colombian healthcare system in the global context.</div></div><div><h3>Methods</h3><div>An exploratory systematic review, known as a “Scoping Review,” was conducted in PubMed, Embase, Scopus, and grey literature from 2009 to 2024; 49 documents were selected for analysis.</div></div><div><h3>Results</h3><div>Of the evidence found, 20.5% (n = 10) were primary studies, highlighting global public policies, and 79.5% (n = 39) comprised grey literature; (n = 8) discussed access barriers, health models, (n = 31) addressed public policies with Colombian intervention pillars, and only (n = 6) included local and territorial health plans in Colombia.</div></div><div><h3>Conclusions</h3><div>The information gathered shows that ORD pose significant challenges to healthcare systems due to their low prevalence and the lack of specific research and treatment. Despite regulatory efforts in Colombia, a comprehensive and coordinated approach is needed to effectively address these conditions.</div></div>","PeriodicalId":101099,"journal":{"name":"Revista Colombiana de Reumatología (English Edition)","volume":"33 2","pages":"Article 504862"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148193398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rheumatologic ultrasound in neurologic diseases of the peripheral nerve","authors":"Catalina Sanmiguel-Reyes,&nbsp;Ruddy Paola Montoya Rumpf,&nbsp;María Paula Carrillo,&nbsp;Carol Anne Mayorga,&nbsp;Héctor Sierra,&nbsp;Sebastián Moreno,&nbsp;Ana Trujillo,&nbsp;Alejandro Escobar,&nbsp;Adriana Rojas-Villarraga,&nbsp;Jairo Cajamarca-Barón","doi":"10.1016/j.rcreue.2026.504874","DOIUrl":"10.1016/j.rcreue.2026.504874","url":null,"abstract":"<div><div>Ultrasonography (US) has become a pivotal tool in assessing peripheral nerve pathology, especially within the rheumatologic domain. Its ability to provide high-resolution, non-invasive imaging enhances diagnostic accuracy and guides therapeutic decisions in complex cases. This review synthesizes the applications, benefits, and limitations of ultrasound in the diagnosis and management of neurologic disorders affecting peripheral nerves in rheumatologic patients.</div><div>The main ultrasound findings in patients with peripheral nervous system involvement in rheumatic diseases are:<ul><li><span>-</span><span><div>Entrapment neuropathies: US effectively identifies characteristic changes such as increased cross-sectional areas and altered echogenicity in conditions like carpal tunnel and cubital tunnel syndromes, enabling early diagnosis and monitoring.</div></span></li><li><span>-</span><span><div>Inflammatory neuropathies: chronic inflammatory demyelinating polyneuropathy (CIDP) and anti-MAG antibody neuropathy demonstrate distinct ultrasonographic patterns, aiding differential diagnoses.</div></span></li><li><span>-</span><span><div>Trauma and neoplasms: ultrasound detects structural abnormalities such as nerve discontinuities, intraneural fibrosis, and nerve-associated tumors with high accuracy.</div></span></li></ul></div><div>US offers several advantages, including real-time dynamic assessments, cost-effectiveness, and non-invasiveness. However, its efficacy is highly dependent on operator expertise and may be limited in deeper nerve imaging.</div></div>","PeriodicalId":101099,"journal":{"name":"Revista Colombiana de Reumatología (English Edition)","volume":"33 2","pages":"Article 504874"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148193478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Capillaroscopic findings in individuals with Sjögren’s syndrome, systemic sclerosis, and primary Raynaud’s phenomenon at a capillaroscopy referral centre in Medellin, Colombia","authors":"Simón Hoyos-Patiño ,&nbsp;Alejandro Arango-Martínez ,&nbsp;Libia María Rodriguez-Padilla ,&nbsp;Andrés Chavarriaga-Restrepo ,&nbsp;Carlos Jaime Velasquez-Franco","doi":"10.1016/j.rcreue.2026.102165","DOIUrl":"10.1016/j.rcreue.2026.102165","url":null,"abstract":"<div><h3>Introduction</h3><div>Nailfold capillaroscopy is a fundamental technique for studying systemic autoimmune diseases such as Sjögren’s syndrome, particularly in patients with Raynaud’s phenomenon and sclerodermiform features. However, in this condition, studies are scarce and often use instruments less precise than digital videocapillaroscopy, limiting the available evidence.</div></div><div><h3>Objective</h3><div>To compare capillaroscopic findings among individuals with Sjögren's syndrome (SS), primary Raynaud's phenomenon (PRP), and systemic sclerosis (SSc) at a national referral centre for nailfold videocapillaroscopy in Medellin, Colombia, between 2016 and 2022.</div></div><div><h3>Materials and methods</h3><div>An analytical cross-sectional observational study that included individuals over 18 years of age with SS, SSc, and PRP. Clinical and capillaroscopic characteristics information was obtained from capillaroscopy reports at an expert centre. Pearson's chi-square test was used to compare qualitative variables, and the Kruskal-Wallis test for quantitative variables. A <em>P</em>-value &lt;.05 was considered statistically significant.</div></div><div><h3>Results</h3><div>A total of 195 patients were included. Subjects with SS had a lower prevalence of abnormal capillaroscopic variables than patients with SSc (<em>P</em> &lt; .001). All abnormal capillaroscopic variables were more frequent in the SS group compared to PRP. There were statistically significant differences among the three patient groups in the capillaroscopic pattern (<em>P</em> &lt; .001). The main capillaroscopic finding in SS was the presence of dilated capillaries (55.4%; 36/65). In the SS group, an early scleroderma pattern was present in 4.6%, and an active scleroderma pattern in 13.8%, both findings less frequent than in SSc but more common than in PRP.</div></div><div><h3>Conclusions</h3><div>In a population of SS patients with a high prevalence of secondary Raynaud's phenomenon and anticentromere antibodies, a high prevalence of capillaroscopic abnormalities was found. Although less frequent compared to the SSc group, these abnormalities were more common than in the PRP group.</div></div>","PeriodicalId":101099,"journal":{"name":"Revista Colombiana de Reumatología (English Edition)","volume":"33 1","pages":"Article 102165"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147453988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The significance of inflammatory markers derived from blood cell counts in predicting rheumatoid arthritis among the elderly","authors":"Nabaa S. Abdul-Sahib ,&nbsp;Majid M. Mahmood ,&nbsp;Ali H. Ad’hiah","doi":"10.1016/j.rcreue.2026.102157","DOIUrl":"10.1016/j.rcreue.2026.102157","url":null,"abstract":"<div><h3>Introduction</h3><div>The systemic immune inflammation index and neutrophil-platelet-to-lymphocyte–hemoglobin ratio are blood-cell-based markers that have recently been described as significant predictors of systemic inflammation in related diseases. However, these markers have not been studied in rheumatoid arthritis and their relationship to aging has not been explored.</div></div><div><h3>Materials and methods</h3><div>In this case–control study, systemic immune inflammation index and neutrophil-platelet-to-lymphocyte–hemoglobin ratio were analyzed in two age groups of rheumatoid arthritis patients: &lt;40 years (young adults; RA_Y) and &gt;60 years (elderly; RA_E). Similar control groups were included (HC_Y and HC_E, respectively). Each group consisted of 50 individuals (total number<!--> <!-->=<!--> <!-->200) with a 1:1 male-to-female ratio.</div></div><div><h3>Results</h3><div>Systemic immune inflammation index and neutrophil-platelet-to-lymphocyte–hemoglobin ratio were significantly elevated in RA_Y and RA_E compared to HC_Y and HC_E, respectively. Neutrophil-platelet-to-lymphocyte–hemoglobin ratio was also significantly elevated in RA_E compared to RA_Y. When systemic immune inflammation index and neutrophil-platelet-to-lymphocyte–hemoglobin ratio were stratified by gender, disease duration, disease activity, or therapy type, no significant differences were found. Disease duration in RA_Y was an exception, and systemic immune inflammation index and neutrophil-platelet-to-lymphocyte–hemoglobin ratio gradually decreased with increasing disease duration. Neutrophil-platelet-to-lymphocyte–hemoglobin ratio showed a very good performance in distinguishing between RA_E and HC_E (area under the curve<!--> <!-->=<!--> <!-->.831). Neutrophil-platelet-to-lymphocyte–hemoglobin ratio was also a significant marker in increasing the risk of rheumatoid arthritis (1.20-fold), particularly in the elderly (1.33-fold). The two blood-cell-based markers showed strong positive pairwise correlations in RA_Y and RA_E.</div></div><div><h3>Conclusion</h3><div>The study indicates for the first time that the blood-cell-based inflammatory markers, systemic immune inflammation and neutrophil-platelet-to-lymphocyte–hemoglobin ratio, are cost-effective predictors of rheumatoid arthritis and are associated with the risk of developing the disease, especially in the elderly.</div></div>","PeriodicalId":101099,"journal":{"name":"Revista Colombiana de Reumatología (English Edition)","volume":"33 1","pages":"Article 102157"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147454081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TREX1 c.590C>T variant as a cause of monogenic systemic lupus erythematosus in a 10-year-old girl: case report","authors":"Leosirlay Rojas-Gómez ,&nbsp;Adriana Díaz-Maldonado ,&nbsp;María Fernanda Reina-Ávila","doi":"10.1016/j.rcreue.2025.102161","DOIUrl":"10.1016/j.rcreue.2025.102161","url":null,"abstract":"<div><div>Juvenile systemic lupus erythematosus is a chronic, autoimmune, and multisystemic disease that affects individuals under 18 years of age. Its early onset suggests a strong genetic relationship, with identified genetic variants causing monogenic systemic lupus erythematosus. The case of a 10-year-old patient with juvenile systemic lupus erythematosus is reported, presenting atypically, severely, and with failure to respond to standard treatment, in whom a variant in the TREX1 gene c.590C&gt;T, p.Ala197Val was identified. TREX1 variants represent up to 2% of systemic lupus erythematosus cases and should be considered in children with early onset, atypical, and severe presentation.</div></div>","PeriodicalId":101099,"journal":{"name":"Revista Colombiana de Reumatología (English Edition)","volume":"33 1","pages":"Article 102161"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147453993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}