Rare Clinical Case of Cryopyrin-Associated Periodic Syndrome Presented with Ankylosing Spondylitis: A Case Report

2021 ◽  
Vol 17 ◽  
Author(s):  
Anna A. Zayaeva ◽  
Lyudmila V. Sokolova ◽  
Denis V. Shaduro ◽  
Andrey V. Petrov ◽  
Shanmugaraj Kulanthaivel ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Treatment Method ◽  
Genetically Engineered ◽  
Periodic Syndrome ◽  
Biological Drugs ◽  
Nlrp3 Gene ◽  
Long Time

Background: Cryopyrin-Associated Periodic Syndrome (CAPS) is a variety of clinical variants of autoinflammatory diseases. The pathology is based on a mutation in the NLRP3 gene encoding the cryopyrin protein, which leads to the uncontrolled production of interleukin-1β. Particular attention should be paid to the rarity of this disease and the lack of clinical knowledge about it in therapeutic and rheumatological practice, which leads to an erroneous diagnosis and the appointment of ineffective treatment for a long time, leading to the progression of the disease and disability of the patient. Case Presentation: This article describes a clinical case of this disease. The first manifestations of the disease in a woman appeared from the age of 2 years, in the form of a rash and fever. Since school age, there have been signs of arthritis. By the age of 24, sensorineural hearing loss and pain in the spine were evident. The disease occurred under the clinical manifestations of spondyloarthritis. Its treatment with anti-inflammatory therapy did not give a stable result. Conclusion: From the analysis, we can conclude that patient M. from early childhood suffers from a severe Neonatal-onset Multisystem Inflammatory Disease of a genetic nature. For a long time, the patient was diagnosed with ankylosing spondylitis, and appropriate treatment was carried out without significant success. The correct diagnosis of CAPS was made only in 2018. This patient has conditions of both CAPS and AS together, which is a very rare association in rheumatological practice. The only treatment method that could stop the manifestations of the disease and prevent life-threatening kidney damage (amyloidosis) is the use of genetically engineered biological drugs, i.e., IL-1β inhibitors. The only drug of this group registered in Russia is canakinumab (Ilaris ®). From the moment of diagnosis to the present day, the patient is treated with the genetically engineered drug canakinumab (Ilaris ®) at a dose of 150 mg once every 8 weeks. 6 months after taking the drug, the patient went into complete clinical and laboratory remission.

scholarly journals Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case

2019 ◽  
Vol 18 (4) ◽  
pp. 270-276
Author(s):  
Ivan A. Kriulin ◽  
E. I. Alexeeva ◽  
Tatyana M. Dvoryakovskaya ◽  
Bella I. Bursagova ◽  
Kirill V. Savostyanov ◽  
...  
Keyword(s):  
Clinical Case ◽  
Periodic Syndrome ◽  
Nlrp3 Gene

scholarly journals Rare dermatological diseases: Devergie disease

2020 ◽  
Vol 22 (7) ◽  
pp. 54-56
Author(s):  
Kristina T. Plieva ◽  
◽  
Elena V. Denisova ◽  
Maksim A. Bobrov ◽  
Dzerassa R. Mildzikhova ◽  
...  
Keyword(s):  
Key Words ◽  
Rare Disease ◽  
Histological Examination ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Dermatological Diseases ◽  
Pityriasis Rubra Pilaris

Devergie disease, or pityriasis rubra pilaris, is a poorly studied and rare disease, which prevalence is estimated at about 1 in 400 thousand. The article provides relevant data on the classification of Devergie disease, features of the course and clinical manifestations of each of the 6 types of the disease, as well as the ap-proximate occurrence of these types. Erythroderma can occur in Devergie disease, but data on the incidence of this manifestation vary significantly. The article presents a clinical case of type 1 Devergie disease. This case is of particular interest, since the disease began not according to the classical scheme, i.e., with appearance of an erythematous spot, but with extensive areas of erythroderma. This case is intended to draw attention to the fact that dermatological diseases do not always develop in a typical way, and the correct diagnosis often requires a histological examination. Key words: pityriasis rubra pilaris, Devergie disease, erythroderma, clinical case. For citation: Plieva K.T., Denisova E.V., Bobrov M.A. et al. Rare dermatological diseases: Devergie disease. Consilium Medicum. 2020; 22 (7): 54–56. DOI: 10.26442/20751753.2020.7.200187

scholarly journals Rapidly progressive course of nonspecific aortoarteritis: a clinical case

2020 ◽  
Vol 11 (4) ◽  
pp. 83-89
Author(s):  
Marina V. Grushina ◽  
Ilya Sergeevich Grekov ◽  
Kseniya D. Arkhypova
Keyword(s):  
Cerebral Ischemia ◽  
Arterial Hypertension ◽  
Clinical Case ◽  
Carotid Arteries ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Practical Interest ◽  
Diagnostic Errors ◽  
Vascular Lesions ◽  
First Year

Background. Nonspecific aortoarteritis, or Takayasus disease, is one of the most complex and rare pathologies in modern clinical practice. It is the orphan nature of the disease, along with non-specific clinical manifestations, that causes a large number of clinical and diagnostic errors that lead to an unfavorable prognosis and early disability of patients. Despite the development of modern methods of treatment of nonspecific aortoarteritis, in some cases it is not possible to achieve a stable remission, which leads to a steady progression of the pathological process. Clinical case description. The article presents a case of a rapidly progressing course of Takayasu's disease in a young woman with multiple arterial vascular lesions that developed during the first year after the onset of arterial hypertension, while the narrowing of the carotid arteries (7585%) was not accompanied by signs of cerebral ischemia. The follow-up period was 10 years. Conclusion. Given the peculiarities of this nosology, each identified case of Takayasus disease is of great clinical and practical interest. The disease peculiarity in thise patient is that during the first year from the onset of arterial hypertension, the main occlusive lesions of the aorta and arterial vessels were identified. At the same time, the narrowing of the carotid arteries (7585%) was not accompanied by signs of cerebral ischemia. It should be noted that often the symptoms of non-specific aortoarteritis appear under the masks of other diseases, which requires a careful differential search. A correct diagnosis and timely treatment can prevent the development of complications and slow the progression of the disease.

scholarly journals Modern aspects of diagnosis and treatment of chronic pancreatitis in children: experience of the center Center for the treatment of developmental anomalies and diseases of the hepatopancreatobiliary system in children

2022 ◽  
pp. 28-34
Author(s):  
B. O. Kulevich ◽  
A. Yu. Razumovsky ◽  
V. V. Kholostova ◽  
Z. B. Mitupov ◽  
A. I. Khavkin ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Clinical Manifestations ◽  
Treatment Method ◽  
Pathological Process ◽  
Diagnosis And Treatment ◽  
Developmental Anomalies ◽  
Enzyme Replacement ◽  
Effective Interventions ◽  
Endocrine Insufficiency ◽  
Long Time

Chronic pancreatitis is one of the most pressing problems of pediatric gastroenterology and surgery of hepatopancreatobiliary organs. Diagnosis and treatment of this category of patients requires a comprehensive examination using modern highly sensitive research methods and the collegial participation of a surgeon, gastroenterologist and endocrinologist. Due to the fact that the algorithm for managing these patients is not regulated, patients often receive enzyme replacement therapy for a long time, with indications for surgical treatment. In addition, the non-specificity of complaints and clinical manifestations of chronic pancreatitis, the asymptomatic course and the initial detection of exo- and endocrine insufficiency lead to a later choice of the optimal treatment method and increase the risk of complications. The key to effective care for children with chronic pancreatitis is the staging and continuity in research and treatment. At the Center for the Treatment of Developmental Anomalies and Diseases of the Hepatopancreatobiliary System in Children on the basis of the Filatov Hospital, highly effective interventions are carried out for chronic pancreatitis in children, the purpose of which is to ensure an adequate outflow of pancreatic juice using longitudinal pancreaticojejunostomy, which, in addition to draining the pancreas, allows to achieve clinical remission and stop the progression pathological process, including diabetes mellitus. The article reflects the experience of diagnosis and treatment of chronic pancreatitis in children.

scholarly journals A complex case of diagnosis of Conn’s syndrome

2020 ◽  
Vol 28 (1) ◽  
pp. 67-72
Author(s):  
Grigory A. Ignatenko ◽  
Ilya S. Grekov ◽  
Marina V. Grushina ◽  
Anna V. Dubovyk
Keyword(s):  
Heart Disease ◽  
Ischemic Heart Disease ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
The Other ◽  
Primary Hyperaldosteronism ◽  
Complex Case ◽  
Conn’S Syndrome ◽  
The Given

The primary hyperaldosteronism also known as Conns syndrome, is a rarely diagnosed disease that commonly runs under a mask of ischemic heart disease and the primary arteria hypertension (AH). Nevertheless, the incidence of the given pathology among all patients with AH makes almost 17%. On the other hand, the absence of specific clinical manifestations of the disease makes its timely and correct diagnosis difficult which is fraught with serious complications. In the article a clinical case of Conns syndrome and peculiarities of its diagnosis are described.

scholarly journals A Case Report of Bullous Emphysema in an Adolescent: Congenital Malformation or Outcome of Bronchopulmonary Dysplasia?

2020 ◽  
Vol 2 ◽  
pp. 2-6
Author(s):  
Svitlana Ilchenko ◽  
Anastasiia Fialkovska ◽  
Oleksii Makoveychuk
Keyword(s):  
Differential Diagnosis ◽  
Clinical Case ◽  
Diagnostic Method ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Detailed Examination ◽  
Pathological Process ◽  
Pulmonary Diseases ◽  
Chronic Obstructive ◽  
Chronic Obstructive Pulmonary Diseases

Pulmonary emphysema belongs to the group of chronic obstructive pulmonary diseases, and inpediatric pulmonology is one of the complex diagnoses that require a careful differential diagnosis. Thearticle describes the possible causes of the formation and clinical manifestations of pulmonaryemphysema in children. We present a clinical case of bullous emphysema in a teenager. This case showsthat a detailed examination using such a modern diagnostic method as high-resolution computedtomography played a crucial role in establishing the patient's correct diagnosis. However, establishing thenature of this pathological process in the child was very difficult. Perhaps an earlier diagnosis couldprevent severe irreversible changes in a teenager's lungs would avoid developing the diffusebronchopulmonary process.

scholarly journals Hemophagocytic syndrome and ankylosing spondylitis

2018 ◽  
Vol 10 (2) ◽  
pp. 113-120
Author(s):  
A R Belogurov ◽  
V I Mazurov ◽  
E N Tcigan ◽  
V V Tyrenko ◽  
M M Toporkov ◽  
...  
Keyword(s):  
Immune System ◽  
Ankylosing Spondylitis ◽  
Autoimmune Disease ◽  
Clinical Case ◽  
Hemophagocytic Syndrome ◽  
Western State ◽  
Long Time ◽  
Medical University ◽  
North Western ◽  
Excessive Activation

Hemophagocytic syndrome is a consequence of excessive activation of the immune system that develops as a rule in response to infection, neoplasm or as a result of an autoimmune disease leading to uncontrolled hyperinflammatory syndrome, internal injuries, cytopenia and death. The diagnosis of the syndrome is complex and is based on the criteria accepted by the society for the study of hemophagocytosis syndrome in 2004. Therapy involves the use of a combination of cytostatics and glucocorticoids and is carried out for a long time. The article describes the clinical case of hemophagocytic syndrome in a patient with ankylosing spondylitis. (For citation: Belogurov AR, Mazurov VI, Tcigan EN, et al. Hemophagocytic syndrome and ankylosing spondylitis. Herald of North-Western State Medical University named after I.I. Mechnikov. 2018;10(2):113-120. doi: 10.17816/mechnikov2018102113-120).

scholarly journals Comparative efficacy of genetically engineered biological drugs in real clinical practice according to the Moscow Unified Arthritis Registry (MUAR) data

2021 ◽  
Vol 5 (2) ◽  
pp. 58-63
Author(s):  
E.A. Rosochkina ◽  
◽  
G.V. Lukina ◽  
E.N. Koltsova ◽  
K.A. Lytkina ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Ankylosing Spondylitis ◽  
Certolizumab Pegol ◽  
Genetically Engineered ◽  
Comparative Efficacy ◽  
Biological Drugs ◽  
Reactive Protein ◽  
Activity Preservation ◽  
New Treatment ◽  
Real Clinical Practice

Background: the list expansion of genetically engineered biological drugs (GEBD) used for the treatment of ankylosing spondylitis (AS) determines the relevance of studies aimed at comparing them and determining their place in this disease treatment. Real clinical practice studies are the preferred source of this data type. Aim: to evaluate the efficacy of various GEBD in patients with AS according to the Moscow Unified Arthritis Registry (MUAR). Material and methods: the analysis of the MUAR data was carried out. These included clinical cases with GEBD, for which there were data of a completed visit after 6 months or more after the treatment initiation. Parameters values achieved during treatment with various drugs were analyzed. The comparison was conducted during a multivariate analysis with adjustments for the identified confounders. Non-clinical parameters that were reliably and independently associated with the achieved BASDAI index (CRP) values were considered as confounders. Results: the study included 363 treatment episodes with GEBP in 361 patients. As mutually independent significant predictors of the achieved ASDAS (confounders) values, GEBD treatment duration were established until the evaluation of indicators (p<0.001) and the age of the patient (p=0.006). Significant association between the established values of the studied parameters and the used GEBD were found for the achieved ASDAS (p=0.033) and ESR (p=0.007) values. In a pairwise drug comparison using the conservative Šidák correction, the achieved values of ASDAS and ESR during infliximab and adalimumab administration were significantly less than during certolizumab pegol administration. Conclusion: infliximab, adalimumab, etanercept, certolizumab pegol, golimumab, secukinumab in real clinical practice demonstrate generally similar clinical efficacy in the treatment of AS. The effect of golimumab and secukinumab, recently introduced into clinical practice, does not significantly differ from the effect produced by long-term TNF-α inhibitors. Certain disease activity preservation in a significant part of patients gives grounds to continue the search for new treatment methods. KEYWORDS: ankylosing spondylitis, genetically engineered biological drugs, tumor necrosis factor inhibitors, C-reactive protein, confounders, registry. FOR CITATION: Rosochkina E.A., Lukina G.V., Koltsova E.N. et al. Comparative efficacy of genetically engineered biological drugs in real clinical practice according to the Moscow Unified Arthritis Registry (MUAR) data. Russian Medical Inquiry. 2021;5(2):58–63. DOI: 10.32364/2587-6821-2021-5-2-58-63.

scholarly journals CLINICAL CASE OF MULTIPLE STEATOCYSTOMA

2017 ◽  
Vol 20 (3) ◽  
pp. 140-142
Author(s):  
V. A Molochkov ◽  
Albina N. Khlebnikova ◽  
Yu. V Molochkova
Keyword(s):  
Literature Review ◽  
Hair Follicle ◽  
Rare Disease ◽  
Sebaceous Gland ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Clinical Findings ◽  
Sebaceous Glands ◽  
Long Time

A description of a rare disease multiple steatocystoma is presented. The disease is characterized by the development of cysts of hair follicle walls and sebaceous gland ducts. Clinical signs are multiple yellow-colored nodules located in the areas with high density of sebaceous glands. Description of clinical case of multiple steatocystoma at 31-year-old female patient, that was treated for a long time with an “unknown dermatosis” and literature review are presented. The correct diagnosis was verified based on anamnesis, clinical findings and pathomorphologic study.

scholarly journals Successful use of the interleukin-17A inhibitor (ixekizumab) in the treatment of psoriatic arthritis

2020 ◽  
Vol 14 (4) ◽  
pp. 165-170
Author(s):  
A. M. Dadalova ◽  
E. A. Vasilenko ◽  
R. R. Samigullina ◽  
V. I. Mazurov
Keyword(s):  
Psoriatic Arthritis ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Biological Drugs ◽  
Average Decrease ◽  
Interleukin 17A ◽  
Urgent Task ◽  
Wide Range ◽  
Factor Α ◽  
New Treatments

Psoriatic arthritis (PsA) is a chronic immune-mediated disease from a group of spondyloarthritis, which is characterized by damage to the musculoskeletal system with a wide range of different clinical manifestations and is usually associated with psoriasis. Activation of the interleukin (IL) 23/IL17 axis plays a key role in the pathogenesis of PsA and psoriasis. When non-steroidal and synthetic disease-modifying antirheumatic drugs are insufficiently effective, biological drugs are recommended. In recent years, there have been considerable advances in PsA treatment with tumor necrosis factor-α (IFN-α) inhibitors and IL-12/23 inhibitors. However, in some cases, this therapy fails to provide the desired effect and a search for new treatments for PsA seems to be an urgent task. The paper desctibes a clinical case demonstrating the efficacy of the IL17A inhibitor ixekizumab in a patient with high PsA activity and recurrent uveitis in both eyes. Ixekizumab therapy resulted in positive changes as the reduced severity of articular syndrome and psoriasis and normalization of acute phase parameters. Assessing the activity of PsA over time when using ixekizumab during a year showed an average decrease in ESR from 72 to 19 mm/h, in CRP from 162.1 to 0 mg/L, BSA from 51 to 0.25%, PASI from 43. 6 to 0, DAPSA from 78.2 to 2, ASDAS-SRB from 5.11 to 1.12, BASDAI from 4.85 to 1, BASFI from 5.3 to 0.7, BASMI from 5.0 to 2.6, MASES from 6 to 0, LEI from 2 to 0, SPARCC from 6 to 0, and NAPSI from 28 to 8. Thus, this clinical case is an example of successful treatment with the IL17 inhibitor ixekizumab for PsA with recurrent uveitis in the patient who has previously received three drugs from the TNFα group without any effect.

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