Pub Date : 2023-07-13DOI: 10.14412/1996-7012-2023-3-104-110
O. Zhelyabina, M. Eliseev, A. Lila
Treatment of such a serious systemic disease as gout is often carried out incorrectly, despite the presence of a large number of recommendations and drugs. The reluctance of some doctors to follow current recommendations for the management of patients with gout is one of the factors for poor adherence of patients to therapy. The review considers modern approaches to the treatment of gout, which provide for long-term strategies for lowering of serum uric acid level.
{"title":"Principles of urate-lowering therapy: eight steps to success","authors":"O. Zhelyabina, M. Eliseev, A. Lila","doi":"10.14412/1996-7012-2023-3-104-110","DOIUrl":"https://doi.org/10.14412/1996-7012-2023-3-104-110","url":null,"abstract":"Treatment of such a serious systemic disease as gout is often carried out incorrectly, despite the presence of a large number of recommendations and drugs. The reluctance of some doctors to follow current recommendations for the management of patients with gout is one of the factors for poor adherence of patients to therapy. The review considers modern approaches to the treatment of gout, which provide for long-term strategies for lowering of serum uric acid level.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85196391","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}
Pub Date : 2023-07-13DOI: 10.14412/1996-7012-2023-3-76-81
E. Cheremushkina, M. Eliseev, A. Semashko, A. Alekseeva, A. Lila
Gout is a chronic inflammatory arthropathy, caused by articular and periarticular sodium monourate (MUN) crystals deposition on the background of chronic hyperuricemia. Gout belongs to the group of autoinflammatory diseases characterized by activation of the innate immune system. In some cases, especially in women, with a long course of the disease and absence of adequate therapy, chronic arthritis is detected, which has little difference from that in rheumatoid arthritis (RA). At the same time, until recently, the combination of RA and gout was considered casuistry due to the inhibition of crystal formation by specific factors associated with RA, what is more mechanisms of inflammation development characteristic of these diseases are completely different. However, according to the latest data, the coexistence of these two diseases in one patient is possible, and the therapy of both, gout and RA (in some patients) can be successful when prescribing biological disease modifying antirheumatic drugs, in particular inhibitors of the interleukin 1 receptor (IL1r).The article presents a rare clinical case of chronic tophi gout in an elderly patient who was followed up for a long time with a diagnosis of RA, a significant improvement was achieved on therapy with the IL1r antagonist anakinra.
{"title":"The use of anakinra in a patient with gout and long-term follow-up of rheumatoid arthritis","authors":"E. Cheremushkina, M. Eliseev, A. Semashko, A. Alekseeva, A. Lila","doi":"10.14412/1996-7012-2023-3-76-81","DOIUrl":"https://doi.org/10.14412/1996-7012-2023-3-76-81","url":null,"abstract":"Gout is a chronic inflammatory arthropathy, caused by articular and periarticular sodium monourate (MUN) crystals deposition on the background of chronic hyperuricemia. Gout belongs to the group of autoinflammatory diseases characterized by activation of the innate immune system. In some cases, especially in women, with a long course of the disease and absence of adequate therapy, chronic arthritis is detected, which has little difference from that in rheumatoid arthritis (RA). At the same time, until recently, the combination of RA and gout was considered casuistry due to the inhibition of crystal formation by specific factors associated with RA, what is more mechanisms of inflammation development characteristic of these diseases are completely different. However, according to the latest data, the coexistence of these two diseases in one patient is possible, and the therapy of both, gout and RA (in some patients) can be successful when prescribing biological disease modifying antirheumatic drugs, in particular inhibitors of the interleukin 1 receptor (IL1r).The article presents a rare clinical case of chronic tophi gout in an elderly patient who was followed up for a long time with a diagnosis of RA, a significant improvement was achieved on therapy with the IL1r antagonist anakinra.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"53 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77614121","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}
Pub Date : 2023-07-13DOI: 10.14412/1996-7012-2023-3-121-128
A. Karateev, A. Lila, V. A. Parfenov, M. N. Khokhlova, M. A. Strakhov
Musculoskeletal diseases, such as osteoarthritis (OA), nonspecific back pain (NBP), and periarticular soft tissue pathology (PSTP – tendinitis, enthesitis, bursitis, etc.) are one of the most common reasons for visiting general practitioners. The treatment of this pathology is based on the complex use of drugs and non-drug methods for maximum pain control and lost function restoration. Considering the common pathogenesis of musculoskeletal pain in OA, NBP, and PSTP, it is advisable to base the therapy of these diseases on a single algorithm. Of course, when prescribing treatment, one should take into account "red flags" (symptoms of life threatening diseases), features of the clinical course, patient's psycho-emotional condition, and comorbid diseases.Development of a unified tactic for the treatment of musculoskeletal pain will significantly reduce the time spent on a diagnostic search and the choice of adequate therapy, which will facilitate the work of a general practitioner. Thus, non-drug approaches (patient education, kinesiotherapy, psychotherapeutic methods, etc.), non-steroidal anti-inflammatory drugs (NSAIDs) and symptomatic slow-acting drugs (SYSADOA) seem to be the most rational approach in the debut of the treatment of OA, NBP and PSTP. Among NSAIDs, celecoxib seems to be one of the optimal drugs in terms of efficacy and safety, and among SYSADOAs – diacerein. There is evidence that the combined use of these drugs may increase their analgesic and anti-inflammatory potential.
{"title":"Combined use of non-steroidal anti-inflammatory drugs and symptomatic slow-acting drugs in musculoskeletal diseases","authors":"A. Karateev, A. Lila, V. A. Parfenov, M. N. Khokhlova, M. A. Strakhov","doi":"10.14412/1996-7012-2023-3-121-128","DOIUrl":"https://doi.org/10.14412/1996-7012-2023-3-121-128","url":null,"abstract":"Musculoskeletal diseases, such as osteoarthritis (OA), nonspecific back pain (NBP), and periarticular soft tissue pathology (PSTP – tendinitis, enthesitis, bursitis, etc.) are one of the most common reasons for visiting general practitioners. The treatment of this pathology is based on the complex use of drugs and non-drug methods for maximum pain control and lost function restoration. Considering the common pathogenesis of musculoskeletal pain in OA, NBP, and PSTP, it is advisable to base the therapy of these diseases on a single algorithm. Of course, when prescribing treatment, one should take into account \"red flags\" (symptoms of life threatening diseases), features of the clinical course, patient's psycho-emotional condition, and comorbid diseases.Development of a unified tactic for the treatment of musculoskeletal pain will significantly reduce the time spent on a diagnostic search and the choice of adequate therapy, which will facilitate the work of a general practitioner. Thus, non-drug approaches (patient education, kinesiotherapy, psychotherapeutic methods, etc.), non-steroidal anti-inflammatory drugs (NSAIDs) and symptomatic slow-acting drugs (SYSADOA) seem to be the most rational approach in the debut of the treatment of OA, NBP and PSTP. Among NSAIDs, celecoxib seems to be one of the optimal drugs in terms of efficacy and safety, and among SYSADOAs – diacerein. There is evidence that the combined use of these drugs may increase their analgesic and anti-inflammatory potential.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81000990","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}
Pub Date : 2023-07-11DOI: 10.14412/1996-7012-2023-3-66-70
I. Menshikova, Y. Pak, M. F. Petrukhnova, O. I. Mochalova
A clinical case of the development of rapidly progressive systemic sclerosis after repeated coronavirus infection is described. The contribution of occupational hazards, the oncological process and radiation therapy to the pathogenesis of this disease is discussed. Hydropericardium was a feature of the clinical picture, as well as rare immunological markers of the late onset of systemic sclerosis.
{"title":"The role of trigger factors in the development of systemic sclerosis (clinical case)","authors":"I. Menshikova, Y. Pak, M. F. Petrukhnova, O. I. Mochalova","doi":"10.14412/1996-7012-2023-3-66-70","DOIUrl":"https://doi.org/10.14412/1996-7012-2023-3-66-70","url":null,"abstract":"A clinical case of the development of rapidly progressive systemic sclerosis after repeated coronavirus infection is described. The contribution of occupational hazards, the oncological process and radiation therapy to the pathogenesis of this disease is discussed. Hydropericardium was a feature of the clinical picture, as well as rare immunological markers of the late onset of systemic sclerosis.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"8 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82367180","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}
Pub Date : 2023-07-11DOI: 10.14412/1996-7012-2023-3-71-75
T. Petrachkova, I. Trofimenko, E. N. Dudina, A. O. Petrachkova, M. E. Kulkova
Obliterative (constrictive) bronchiolitis (OB) is a rare disease characterized by destruction of the bronchiolar epithelium and subsequent progressive airway obstruction. OB is most common in rheumatoid arthritis (RA) compared to other systemic rheumatic diseases. Clinical manifestations of OB are found mainly with a long duration of RA and the absence of adequate therapy for articular manifestations. We present a clinical observation, demonstrating the distal respiratory tract involvement in a patient with RA during the first year of the disease, which is observed in no more than 10–20% of cases. The nonspecificity of respiratory symptoms on the background of immunosuppressive therapy led to a diverse differential diagnostic spectrum of pulmonary pathology. For timely diagnosis and optimization of therapeutic approaches, clinical suspicion for respiratory lesions in patients with RA and interdisciplinary cooperation are necessary.
{"title":"Obliterative bronchiolitis in rheumatoid arthritis (clinical case)","authors":"T. Petrachkova, I. Trofimenko, E. N. Dudina, A. O. Petrachkova, M. E. Kulkova","doi":"10.14412/1996-7012-2023-3-71-75","DOIUrl":"https://doi.org/10.14412/1996-7012-2023-3-71-75","url":null,"abstract":"Obliterative (constrictive) bronchiolitis (OB) is a rare disease characterized by destruction of the bronchiolar epithelium and subsequent progressive airway obstruction. OB is most common in rheumatoid arthritis (RA) compared to other systemic rheumatic diseases. Clinical manifestations of OB are found mainly with a long duration of RA and the absence of adequate therapy for articular manifestations. We present a clinical observation, demonstrating the distal respiratory tract involvement in a patient with RA during the first year of the disease, which is observed in no more than 10–20% of cases. The nonspecificity of respiratory symptoms on the background of immunosuppressive therapy led to a diverse differential diagnostic spectrum of pulmonary pathology. For timely diagnosis and optimization of therapeutic approaches, clinical suspicion for respiratory lesions in patients with RA and interdisciplinary cooperation are necessary.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80803093","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}
Pub Date : 2023-07-10DOI: 10.14412/1996-7012-2023-3-37-44
O. Egorova, A. Datsina
Mesenteric panniculitis (MPn) is a rare form of adipose tissue inflammation, mainly of the intestinal mesentery, less often of the omentum, preand retroperitoneal tissue. There are not many descriptions of MPn in rheumatic diseases in the literature: in systemic lupus erythematosus, systemic sclerosis, Sjogren's syndrome, rheumatoid arthritis (RA), ankylosing spondylitis, mesenteric form (MF) of idiopathic lobular panniculitis (ILPn) and IgG4-related disease (IgG4-RD). Given the polymorphism of clinical manifestations, including systemic ones, it is of interest to look at the problem of MPn from the perspective of a rheumatologist.Objective: to evaluate the clinical and laboratory features of MPn in modern rheumatological practice.Material and methods. The study included 64 patients (19 men and 45 women aged 19 to 76 years, median disease duration 28.6 [0.3; 243] months). Laboratory and instrumental studies were carried out according to a single algorithm, which included standard clinical, immunological methods, as well as the determination of fecal calprotectin and tumor markers, ultrasound of the skin and subcutaneous adipose tissue (SAT), computed tomography of the chest and abdominal organs, abdominal positron emission tomography, pathomorphological examination of biopsies of the skin, pancreas and mesentery.Results and discussion. 89% of patients had abdominal pain, 48.4% had nausea, 53.1% had weakness, 44% had subfebrile fever, 32.8% had articular syndrome, and 29.6% – skin and pancreas involvement. Median ESR was 34 [11; 52] mm/h, CRP level – 14 [2; 72] mg/l. Most of the immunological parameters remained within the normal range, but in some cases there was an increase in the concentration of rheumatoid factor, antibodies to the cyclic citrullinated peptide, IgG4. The level of tumor markers CA 125, CEA, CA 19–9 and TumorM2-PK was increased 2 times or more in 5 patients. In our study, all radiological signs and all degrees of severity of MPn were observed. An additional examination confirmed the presence of MF ILPn, RA, IgG4-RD, gastrointestinal, malignant, hematological and other diseases, which made it possible to identify five diagnostic blocks.Conclusion. Early diagnosis and correct interpretation of the described changes require a lot of work-up and a multidisciplinary approach, which contributes to accurate and timely recognition of the disease.
{"title":"Mesenteric panniculitis in rheumatologist practice","authors":"O. Egorova, A. Datsina","doi":"10.14412/1996-7012-2023-3-37-44","DOIUrl":"https://doi.org/10.14412/1996-7012-2023-3-37-44","url":null,"abstract":"Mesenteric panniculitis (MPn) is a rare form of adipose tissue inflammation, mainly of the intestinal mesentery, less often of the omentum, preand retroperitoneal tissue. There are not many descriptions of MPn in rheumatic diseases in the literature: in systemic lupus erythematosus, systemic sclerosis, Sjogren's syndrome, rheumatoid arthritis (RA), ankylosing spondylitis, mesenteric form (MF) of idiopathic lobular panniculitis (ILPn) and IgG4-related disease (IgG4-RD). Given the polymorphism of clinical manifestations, including systemic ones, it is of interest to look at the problem of MPn from the perspective of a rheumatologist.Objective: to evaluate the clinical and laboratory features of MPn in modern rheumatological practice.Material and methods. The study included 64 patients (19 men and 45 women aged 19 to 76 years, median disease duration 28.6 [0.3; 243] months). Laboratory and instrumental studies were carried out according to a single algorithm, which included standard clinical, immunological methods, as well as the determination of fecal calprotectin and tumor markers, ultrasound of the skin and subcutaneous adipose tissue (SAT), computed tomography of the chest and abdominal organs, abdominal positron emission tomography, pathomorphological examination of biopsies of the skin, pancreas and mesentery.Results and discussion. 89% of patients had abdominal pain, 48.4% had nausea, 53.1% had weakness, 44% had subfebrile fever, 32.8% had articular syndrome, and 29.6% – skin and pancreas involvement. Median ESR was 34 [11; 52] mm/h, CRP level – 14 [2; 72] mg/l. Most of the immunological parameters remained within the normal range, but in some cases there was an increase in the concentration of rheumatoid factor, antibodies to the cyclic citrullinated peptide, IgG4. The level of tumor markers CA 125, CEA, CA 19–9 and TumorM2-PK was increased 2 times or more in 5 patients. In our study, all radiological signs and all degrees of severity of MPn were observed. An additional examination confirmed the presence of MF ILPn, RA, IgG4-RD, gastrointestinal, malignant, hematological and other diseases, which made it possible to identify five diagnostic blocks.Conclusion. Early diagnosis and correct interpretation of the described changes require a lot of work-up and a multidisciplinary approach, which contributes to accurate and timely recognition of the disease.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"25 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80864588","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}
Pub Date : 2023-07-10DOI: 10.14412/1996-7012-2023-3-45-50
N. Toroptsova, A. A. Bagretsova, A. Bursikov, E. Kuzmicheva
Osteoarthritis (OA) is a chronic progressive joint disease that leads to disability. One of the main treatment approaches in OA is to reduce pain and increase the functional activity of patients.Objective: to evaluate the efficacy, tolerability and safety of Meloxicam Canon (MC) in the form of a 1% gel for external use as a symptomatic therapy in patients with knee OA, accompanied by pain.Material and methods. The randomized, open, multicenter study included 100 patients aged 50 to 80 years with stage II–III knee OA, who were randomized into two groups in a 1:1 ratio. In the main group, patients applied MC gel topically, and in the comparison group –Amelotex® gel. Patients were examined at baseline, and after 7, 14 and 28 days. The following indicators were studied: intensity of pain during movement on a visual analogue scale (VAS), affected knee circumference (AKC); Lequesne and WOMAC indices; patient global health assessment (PGHA) according to VAS; response to therapy, tolerability according to the number of adverse reactions (AR), safety according to blood and urine tests.Results and discussion. Pain intensity according to VAS by the end of the observation period decreased on average by 65.0±25.6% in the main group, and by 62.8±29.1% in the comparison group (p<0.0001 for each group). AKS significantly decreased by visit 3 in both groups. There was an improvement in PGHA by VAS by 69.7±24.3 and 66.6±26.8% on average, respectively (p><0.0001 for each group). The average decrease in the Lequesne index was 55.0±30.1 and 52.8±38.3%, and in the WOMAC index – 58.9±30.8 and 59.3±31.8%, respectively, in the main group and comparison group (p><0.0001 in each group for both indices), while there were no differences in the dynamics of all indicators between the two groups (p>0.05). During the observation, no negative dynamics in patients’ condition in both groups was noted. No serious ARs or deaths were recorded during the study.Conclusion. The conducted multicenter study demonstrated that MC gel is an effective and safe drug for local use in OA, accompanied by pain.
{"title":"Local therapy of the knee osteoarthritis: results of a multicenter study of meloxicam","authors":"N. Toroptsova, A. A. Bagretsova, A. Bursikov, E. Kuzmicheva","doi":"10.14412/1996-7012-2023-3-45-50","DOIUrl":"https://doi.org/10.14412/1996-7012-2023-3-45-50","url":null,"abstract":"Osteoarthritis (OA) is a chronic progressive joint disease that leads to disability. One of the main treatment approaches in OA is to reduce pain and increase the functional activity of patients.Objective: to evaluate the efficacy, tolerability and safety of Meloxicam Canon (MC) in the form of a 1% gel for external use as a symptomatic therapy in patients with knee OA, accompanied by pain.Material and methods. The randomized, open, multicenter study included 100 patients aged 50 to 80 years with stage II–III knee OA, who were randomized into two groups in a 1:1 ratio. In the main group, patients applied MC gel topically, and in the comparison group –Amelotex® gel. Patients were examined at baseline, and after 7, 14 and 28 days. The following indicators were studied: intensity of pain during movement on a visual analogue scale (VAS), affected knee circumference (AKC); Lequesne and WOMAC indices; patient global health assessment (PGHA) according to VAS; response to therapy, tolerability according to the number of adverse reactions (AR), safety according to blood and urine tests.Results and discussion. Pain intensity according to VAS by the end of the observation period decreased on average by 65.0±25.6% in the main group, and by 62.8±29.1% in the comparison group (p<0.0001 for each group). AKS significantly decreased by visit 3 in both groups. There was an improvement in PGHA by VAS by 69.7±24.3 and 66.6±26.8% on average, respectively (p><0.0001 for each group). The average decrease in the Lequesne index was 55.0±30.1 and 52.8±38.3%, and in the WOMAC index – 58.9±30.8 and 59.3±31.8%, respectively, in the main group and comparison group (p><0.0001 in each group for both indices), while there were no differences in the dynamics of all indicators between the two groups (p>0.05). During the observation, no negative dynamics in patients’ condition in both groups was noted. No serious ARs or deaths were recorded during the study.Conclusion. The conducted multicenter study demonstrated that MC gel is an effective and safe drug for local use in OA, accompanied by pain.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74616619","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}
Pub Date : 2023-07-10DOI: 10.14412/1996-7012-2023-3-60-65
O. G. Radaikina, A. Usanova, I. Fazlova, N. Guranova, E. V. Radaikina
Marble disease, or osteopetrosis (OPT), is rare in the practice of a rheumatologist, internist or pediatrician. This group of hereditary diseases is based on a defect in the formation, development and functioning of osteoclasts (OCL), which leads to disruption of the processes of resorption and remodeling of bone tissue. Disturbance of resorption leads to increased density and changes in the quality of the bones, as a result of which they become more fragile. As a rule, the disease manifests with pathological fractures. In recent decades, 70% of patients with OPT have been found to have mutations in at least 10 genes that lead to impaired functioning of the OCL. Depending on the variant of inheritance, autosomal dominant, autosomal recessive and intermediate types of OPT are distinguished. Autosomal dominant OPT has a benign course that can be asymptomatic or characterized by multiple bone fractures and other spinal anomalies. The disease usually manifests in adulthood or adolescence. Life expectancy in patients of this group does not differ from that in the general population. Malignant, or infantile, OPT is associated with an autosomal recessive inheritance pattern. Its clinical manifestations are observed from the moment of birth, without treatment, patients die within the first decade of life. In such patients, in addition to the skeletal pathology, there is involvement of the hematopoietic system, compression of the cranial nerves and their function disturbance.The article presents a clinical case of autosomal dominant OPT diagnosed in adulthood (at the age of 38), when the patient referred to the doctor for the first time. Differential diagnosis with ankylosing spondylitis and paraneoplastic spondyloarthritis was performed.
{"title":"Clinical masks of marble disease","authors":"O. G. Radaikina, A. Usanova, I. Fazlova, N. Guranova, E. V. Radaikina","doi":"10.14412/1996-7012-2023-3-60-65","DOIUrl":"https://doi.org/10.14412/1996-7012-2023-3-60-65","url":null,"abstract":"Marble disease, or osteopetrosis (OPT), is rare in the practice of a rheumatologist, internist or pediatrician. This group of hereditary diseases is based on a defect in the formation, development and functioning of osteoclasts (OCL), which leads to disruption of the processes of resorption and remodeling of bone tissue. Disturbance of resorption leads to increased density and changes in the quality of the bones, as a result of which they become more fragile. As a rule, the disease manifests with pathological fractures. In recent decades, 70% of patients with OPT have been found to have mutations in at least 10 genes that lead to impaired functioning of the OCL. Depending on the variant of inheritance, autosomal dominant, autosomal recessive and intermediate types of OPT are distinguished. Autosomal dominant OPT has a benign course that can be asymptomatic or characterized by multiple bone fractures and other spinal anomalies. The disease usually manifests in adulthood or adolescence. Life expectancy in patients of this group does not differ from that in the general population. Malignant, or infantile, OPT is associated with an autosomal recessive inheritance pattern. Its clinical manifestations are observed from the moment of birth, without treatment, patients die within the first decade of life. In such patients, in addition to the skeletal pathology, there is involvement of the hematopoietic system, compression of the cranial nerves and their function disturbance.The article presents a clinical case of autosomal dominant OPT diagnosed in adulthood (at the age of 38), when the patient referred to the doctor for the first time. Differential diagnosis with ankylosing spondylitis and paraneoplastic spondyloarthritis was performed.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"41 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73296352","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}
Pub Date : 2023-07-10DOI: 10.14412/1996-7012-2023-3-16-21
M. Krylov, M. Kaleda, E. Samarkina
Numerous recent studies have shown that TNFAIP3 and TNF-α gene polymorphisms are associated with susceptibility to certain autoimmune and inflammatory diseases, including systemic lupus erythematosus (SLE), systemic scleroderma, rheumatoid arthritis, psoriasis, etc. However, the results of studies on associations between these polymorphisms and the risk of developing SLE in children are ambiguous and few in number.Objective: to test the hypothesis of a possible association between the rs10499194 polymorphism of the TNFA1P3 gene and the rs1800629 polymorphism of the TNF-α gene with susceptibility to juvenile SLE (jSLE) and its clinical phenotypes in the Russian pediatric population.Material and methods. Both polymorphisms were studied by allele-specific real-time polymerase chain reaction in 63 children (15 boys and 48 girls) with a confirmed diagnosis of jSLE, whose mean age was 12.3±3.2 years (3–17 years), and the mean duration of the disease was 4.1±2.4 years. Data on the frequency of genotypes and alleles of the corresponding TNFA1P3 and TNF-α gene polymorphisms in 309 healthy unrelated blood donors over the age of 18 years (20–45 years) were used as controls.Results and discussion. The study showed that the frequency of the rs10499194T mutant allele of the TNFA1P3 gene in patients with jSLE was significantly lower compared to the control (20.6 and 30.7%; p=0.023), and its carriage slightly reduced the risk of developing SLE (odds ratio, OR 0.58; 95% confidence interval, CI 0.32–1.05, p=0.053). The frequency of the rs1800629A mutant allele of the TNF-α gene was slightly higher in jSLE compared with controls (38.1 and 26.2%, respectively; p=0.056), and its carriage slightly increased the risk of developing SLE (OR 1.73; 95% CI 0.93–3.16; p=0.056). An analysis of the frequency distribution of the rs10499194 genotypes in groups of patients with and without arthritis revealed significant differences (p=0.003). Carrying genotypes with the mutant T allele (CT+TT genotypes) in jSLE significantly reduced the risk of developing of arthritis (p=0.003). At the same time, the risk of arthritis in carriers of at least one C allele was 3.76 times higher than in carriers of the other allele (p=0.006). No relationship was found between the rs1800629 TNF-α gene polymorphism and the clinical phenotypes of jSLE.Conclusion. The rs10499194T mutant allele statistically significant reduces the risk of arthritis development as one of the clinical manifestations of jSLE, and the rs1800629A mutant allele of the TNF-α gene is associated with a tendency to increase the risk of jSLE.
近期大量研究表明，TNFAIP3和TNF-α基因多态性与某些自身免疫性和炎症性疾病的易感性相关，包括系统性红斑狼疮(SLE)、系统性硬皮病、类风湿关节炎、牛皮癣等。然而，关于这些多态性与儿童SLE发病风险之间关系的研究结果是模糊的，而且数量很少。目的:验证俄罗斯儿童人群中TNFA1P3基因rs10499194多态性和TNF-α基因rs1800629多态性与幼年SLE易感性及其临床表型之间可能存在关联的假设。材料和方法。对确诊为jSLE的63例儿童(男孩15例，女孩48例)进行了等位基因特异性实时聚合酶链反应，研究了这两种多态性，平均年龄为12.3±3.2岁(3-17岁)，平均病程为4.1±2.4年。以年龄在18岁以上(20-45岁)的309名健康无血缘关系献血者的基因型和相应的TNFA1P3和TNF-α基因多态性的等位基因频率数据为对照。结果和讨论。研究表明，jSLE患者中TNFA1P3基因rs10499194T突变等位基因的频率明显低于对照组(20.6%和30.7%;p=0.023)，其携带可略微降低发生SLE的风险(优势比OR 0.58;95%置信区间，CI 0.32-1.05, p=0.053)。jSLE患者TNF-α基因rs1800629A突变等位基因的频率略高于对照组(分别为38.1%和26.2%);p=0.056)，携带它会略微增加发生SLE的风险(OR 1.73;95% ci 0.93-3.16;p = 0.056)。分析rs10499194基因型在关节炎患者和非关节炎患者组中的频率分布，发现有显著差异(p=0.003)。携带突变T等位基因型(CT+TT基因型)的jSLE患者患关节炎的风险显著降低(p=0.003)。同时，携带至少一个C等位基因的人患关节炎的风险是携带另一个C等位基因的人的3.76倍(p=0.006)。rs1800629 TNF-α基因多态性与jsl临床表型无相关性。作为jSLE临床表现之一的rs10499194T突变等位基因具有统计学意义的降低关节炎发展风险，TNF-α基因rs1800629A突变等位基因具有增加jSLE风险的倾向。
{"title":"Association of TNFAIP3 (rs10499194) and TNF-α (rs1800629) gene polymorphisms with susceptibility to systemic lupus erythematosus with juvenile onset and its clinical phenotypes in the Russian pediatric population","authors":"M. Krylov, M. Kaleda, E. Samarkina","doi":"10.14412/1996-7012-2023-3-16-21","DOIUrl":"https://doi.org/10.14412/1996-7012-2023-3-16-21","url":null,"abstract":"Numerous recent studies have shown that TNFAIP3 and TNF-α gene polymorphisms are associated with susceptibility to certain autoimmune and inflammatory diseases, including systemic lupus erythematosus (SLE), systemic scleroderma, rheumatoid arthritis, psoriasis, etc. However, the results of studies on associations between these polymorphisms and the risk of developing SLE in children are ambiguous and few in number.Objective: to test the hypothesis of a possible association between the rs10499194 polymorphism of the TNFA1P3 gene and the rs1800629 polymorphism of the TNF-α gene with susceptibility to juvenile SLE (jSLE) and its clinical phenotypes in the Russian pediatric population.Material and methods. Both polymorphisms were studied by allele-specific real-time polymerase chain reaction in 63 children (15 boys and 48 girls) with a confirmed diagnosis of jSLE, whose mean age was 12.3±3.2 years (3–17 years), and the mean duration of the disease was 4.1±2.4 years. Data on the frequency of genotypes and alleles of the corresponding TNFA1P3 and TNF-α gene polymorphisms in 309 healthy unrelated blood donors over the age of 18 years (20–45 years) were used as controls.Results and discussion. The study showed that the frequency of the rs10499194T mutant allele of the TNFA1P3 gene in patients with jSLE was significantly lower compared to the control (20.6 and 30.7%; p=0.023), and its carriage slightly reduced the risk of developing SLE (odds ratio, OR 0.58; 95% confidence interval, CI 0.32–1.05, p=0.053). The frequency of the rs1800629A mutant allele of the TNF-α gene was slightly higher in jSLE compared with controls (38.1 and 26.2%, respectively; p=0.056), and its carriage slightly increased the risk of developing SLE (OR 1.73; 95% CI 0.93–3.16; p=0.056). An analysis of the frequency distribution of the rs10499194 genotypes in groups of patients with and without arthritis revealed significant differences (p=0.003). Carrying genotypes with the mutant T allele (CT+TT genotypes) in jSLE significantly reduced the risk of developing of arthritis (p=0.003). At the same time, the risk of arthritis in carriers of at least one C allele was 3.76 times higher than in carriers of the other allele (p=0.006). No relationship was found between the rs1800629 TNF-α gene polymorphism and the clinical phenotypes of jSLE.Conclusion. The rs10499194T mutant allele statistically significant reduces the risk of arthritis development as one of the clinical manifestations of jSLE, and the rs1800629A mutant allele of the TNF-α gene is associated with a tendency to increase the risk of jSLE.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"22 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82804565","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}
Pub Date : 2023-07-10DOI: 10.14412/1996-7012-2023-3-7-15
A. Klimenko, A. Gaffarova, N. Demidova
Catastrophic antiphospholipid syndrome (CAPS) is a life-threatening condition associated with the development of thrombotic occlusion of microvasculature vessels, with a mortality rate of about 50%.The pathogenesis of CAPS is based on cellular activation, complement system induction, cytokine stimulation, inhibition of anticoagulant factors and fibrinolysis, which leads to progressive thrombotic microangiopathy, disseminated intravascular coagulation (DIC), and systemic inflammatory response syndrome. Classification criteria for CAPS include microthrombotic involvement of ≥3 organs (most commonly lungs, kidneys, and central nervous system) for ≤1 week with high titers of antiphospholipid antibodies.Differential diagnosis is carried out with DIC, heparin-induced thrombocytopenia, hemolytic uremic syndrome, HELLP syndrome, sepsis. Treatment of CAPS in the acute phase involves anticoagulant and immunosuppressive therapy (glucocorticoids, plasmapheresis, IV immunoglobulin, rituximab, eculizumab). Timely diagnosis and adequately selected treatment of CAPS can reduce mortality from 50 to 30%.Further study of CAPS is needed to improve the prognosis and increase the life expectancy of patients.
{"title":"Catastrophic antiphospholipid syndrome: current aspects of pathogenesis, diagnosis and treatment","authors":"A. Klimenko, A. Gaffarova, N. Demidova","doi":"10.14412/1996-7012-2023-3-7-15","DOIUrl":"https://doi.org/10.14412/1996-7012-2023-3-7-15","url":null,"abstract":"Catastrophic antiphospholipid syndrome (CAPS) is a life-threatening condition associated with the development of thrombotic occlusion of microvasculature vessels, with a mortality rate of about 50%.The pathogenesis of CAPS is based on cellular activation, complement system induction, cytokine stimulation, inhibition of anticoagulant factors and fibrinolysis, which leads to progressive thrombotic microangiopathy, disseminated intravascular coagulation (DIC), and systemic inflammatory response syndrome. Classification criteria for CAPS include microthrombotic involvement of ≥3 organs (most commonly lungs, kidneys, and central nervous system) for ≤1 week with high titers of antiphospholipid antibodies.Differential diagnosis is carried out with DIC, heparin-induced thrombocytopenia, hemolytic uremic syndrome, HELLP syndrome, sepsis. Treatment of CAPS in the acute phase involves anticoagulant and immunosuppressive therapy (glucocorticoids, plasmapheresis, IV immunoglobulin, rituximab, eculizumab). Timely diagnosis and adequately selected treatment of CAPS can reduce mortality from 50 to 30%.Further study of CAPS is needed to improve the prognosis and increase the life expectancy of patients.","PeriodicalId":18651,"journal":{"name":"Modern Rheumatology Journal","volume":"41 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74481154","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}
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