Kreatínkináza (CK) predstavuje intracelulárny enzým zapojený do energetického metabolizmu buniek, ktorý je lokalizovaný v tkanivách s vysokými energetickými nárokmi ako sú kostrové svaly alebo myokard. Sérová hladina CK odráža integritu svalovej membrány, v dôsledku čoho možno hyperCKémiu označiť ako nešpecifický marker svalového poškodenia. Diferenciálna diagnostika hyperCKémie v detskom veku zahŕňa nielen neuromuskulárne ochorenia, ale tiež spektrum ochorení, ktorých iniciálna diagnostika patrí aj do rúk skúseného pediatra. Korešpondujúci autorka: MUDr. Patrícia Balážová Klinika detskej neurológie LF UK a NÚDCH v Bratislave patricia.balazova@nudch.eu
Creatine kinase (CK) is an enzyme located in tissues with high energy demands, such as skeletal muscles or myocardium. It plays an essential role in cells’ energy metabolism. The level of CK in the blood reflects the muscle membrane’s integrity, and elevated CK levels can indicate muscle damage. However, diagnosing the cause of elevated CK levels in children requires the expertise of an experienced pediatrician. This may be due to not only neuromuscular diseases but also a range of other diseases.
- Klíčová slova
- hyperCKemie,
- MeSH
- dítě MeSH
- hypotyreóza diagnóza klasifikace metabolismus MeSH
- kreatinkinasa * analýza klasifikace krev MeSH
- lidé MeSH
- myozitida diagnóza klasifikace metabolismus MeSH
- neuromuskulární nemoci * diagnóza klasifikace metabolismus MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- přehledy MeSH
- MeSH
- artritida diagnóza etiologie imunologie klasifikace mikrobiologie MeSH
- myozitida diagnóza etiologie klasifikace MeSH
- osteoartróza diagnóza farmakoterapie klasifikace MeSH
- revmatoidní artritida diagnostické zobrazování diagnóza farmakoterapie MeSH
- revmatologie * klasifikace MeSH
- spondylartritida diagnóza etiologie klasifikace MeSH
- systémový lupus erythematodes diagnóza klasifikace komplikace MeSH
- vaskulitida diagnóza etiologie klasifikace MeSH
- Publikační typ
- přehledy MeSH
Autoimunní revmatická onemocnění jsou rozmanitou skupinou stavů, které se mohou projevovat tvorbou autoprotilátek, funkčními poruchami imunity a systémovými projevy. Diagnostika může být obtížná kvůli mnoha nespecifickým projevům. Klíčovým testem, který v praxi využíváme, je stanovení orgánově nespecifických autoprotilátek. Autoprotilátky vyskytující se u osob se systémovými revmatickými chorobami mohou sloužit nejen jako markery pro klasifikaci, diagnózu a prognózu onemocnění, ale také při hodnocení aktivity onemocnění a při rozhodování o léčebném postupu. Autoprotilátky také často hrají přímou úlohu v patogenezi jednotlivých onemocnění.
Autoimmune rheumatic diseases represent a diverse group of conditions that may manifest with the production of autoantibodies, immune dysfunction, and systemic symptoms. Diagnosis can be challenging due to many nonspecific manifestations. A key test used in practice is the detection of organ-nonspecific autoantibodies. Autoantibodies present in individuals with systemic rheumatic diseases can serve not only as markers for classification, diagnosis, and prognosis but also in assessing disease activity and guiding treatment decisions. Autoantibodies often also play a direct role in the pathogenesis of individual diseases.
- MeSH
- antigeny jaderné imunologie MeSH
- antinukleární protilátky imunologie MeSH
- autoimunitní nemoci diagnóza imunologie MeSH
- autoprotilátky * imunologie klasifikace MeSH
- imunologické techniky metody MeSH
- lidé MeSH
- myozitida imunologie MeSH
- protilátky proti cytoplazmě neutrofilů imunologie MeSH
- protilátky imunologie klasifikace MeSH
- revmatické nemoci * diagnóza imunologie MeSH
- revmatoidní faktor imunologie MeSH
- systémová sklerodermie imunologie MeSH
- systémový lupus erythematodes diagnóza imunologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- práce podpořená grantem MeSH
- přehledy MeSH
- MeSH
- chronická kritická ischemie končetin diagnóza farmakoterapie MeSH
- hydroxymethylglutaryl-CoA-reduktasy imunologie škodlivé účinky MeSH
- imunosupresiva aplikace a dávkování terapeutické užití MeSH
- inhibitory agregace trombocytů aplikace a dávkování terapeutické užití MeSH
- komorbidita MeSH
- lidé MeSH
- myozitida chemicky indukované terapie MeSH
- nemoci svalů * chemicky indukované terapie MeSH
- senioři MeSH
- statiny * škodlivé účinky terapeutické užití MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- dyslipidemie farmakoterapie MeSH
- glukokortikoidy aplikace a dávkování terapeutické užití MeSH
- imunosupresiva terapeutické užití MeSH
- infarkt myokardu bez ST elevací terapie MeSH
- lidé MeSH
- myozitida chemicky indukované diagnóza farmakoterapie MeSH
- nemoci svalů * chemicky indukované diagnóza farmakoterapie MeSH
- senioři MeSH
- statiny * aplikace a dávkování škodlivé účinky terapeutické užití MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Myositidy neboli idiopatické zánětlivé myopatie tvoří heterogenní skupinu autoimunitních onemocnění příčně pruhovaných svalů. Jejich diagnostika není jednoduchá, protože často dochází k překryvu s dalšími autoimunitními onemocněními. Navíc není konsensus na klasifikaci myositid. Mezi podtypy myositidy patří polymyositida, dermatomyositida, myositida s inkluzivními tělísky, antisyntetázový syndrom a další. Z vyšetření je důležité provedení biopsie svalu, dále biochemické stanovení hladin svalových enzymů v séru pacienta a v současné době také vyšetření autoprotilátek – jak specifických pro myositidy, tak s myositidami asociovaných – které je užitečné pro určení podtypu myositidy. Myositidy jsou často dobře léčitelné, především kortikoidy, a proto je odlišení od jiných svalových onemocnění a jejich správná diagnóza stěžejní pro úspěšnou léčbu.
Myositis, also known as idiopathic inflammatory myopathies, is a heterogeneous group of autoimmune diseases affecting skeletal muscles. The diagnosis is not easy, because myositis itself often co-occur with other autoimmune conditions. Moreover, there is no consensus on myositis classification. Myositis subtypes include polymyositis, dermatomyositis, inclusion body myositis, anti-synthetase syndrome, and others. From a diagnostic standpoint, muscle biopsy is important, along with biochemical determination of muscle enzyme levels in the patient‘s serum. Cu- rrently, the examination of autoantibodies – both specific to myositis and associated with myositis – is also useful when determining the myositis subtype. Myositis is often highly treatable, mainly with corticosteroids, and for that reason distinguishing myositis from other muscle disorders and making an accurate diagnosis is essential for successful treatment.
- MeSH
- autoimunitní nemoci MeSH
- autoprotilátky MeSH
- biopsie MeSH
- kreatinkinasa MeSH
- lidé MeSH
- myozitida * diagnóza farmakoterapie klasifikace MeSH
- sérologické testy * metody MeSH
- svaly enzymologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
OBJECTIVE: To study the trajectories of changes in damage over time and explore associations with autoantibody defined subgroups using a large international cohort of patients with idiopathic inflammatory myopathies (IIM). METHODS: Data from the MYONET registry, including patients who were tested for autoantibodies and had at least one assessment of damage using the Myositis Damage Index (MDI), were analyzed. Patients were sub-grouped according to their autoantibody profiles (myositis-specific, myositis-associated, or seronegative). The index date was defined as the time point for the first registered MDI assessment. The longitudinal trajectories of damage with autoantibody status as the main predictor were analyzed using linear mixed models. RESULTS: A total of 757 adult patients were included in this study. Each year of disease duration since diagnosis had an estimated MDI score increase of 0.16 units for the seronegative group (reference). Compared with the seronegative group as reference, patients with dermatomyositis-specific autoantibodies developed less damage per year of follow-up since diagnosis (average 0.08 less score, P = 0.04), whereas patients with anti-PM/Scl autoantibodies developed more damage per year of follow-up since diagnosis (average 0.28 higher score, P = 0.03) independent of sex and age at diagnosis. The seronegative subgroup and the immune-mediated necrotizing myopathy autoantibody subgroup had the strongest correlation between severity of muscle damage and HAQ-DI scores at five years of follow-up, rho=0.84, P < 0.001 and rho=0.72, P < 0.001, respectively. CONCLUSION: Our study is the first to describe patterns and trajectories of change in damage over time in relation to autoantibody defined subgroups in a large international multicenter cohort of patients with IIM. Patients with anti-PM/Scl scored a greater extent of damage, whereas patients with dermatomyositis-specific antibodies had less damage than seronegative patients. Severity in muscle damage had moderate to strong correlation with functional disability among the IMNM and seronegative subgroups with lower correlations for the other subgroups. These findings suggest that autoantibodies may be useful predictors of long-term damage.
- MeSH
- autoprotilátky * krev imunologie MeSH
- dermatomyozitida imunologie krev MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- longitudinální studie MeSH
- myozitida * imunologie krev MeSH
- progrese nemoci MeSH
- registrace * MeSH
- senioři MeSH
- stupeň závažnosti nemoci MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
OBJECTIVES: To compare clinical characteristics, including the frequency of cutaneous, extramuscular manifestations and malignancy, between adults with anti-synthetase syndrome (ASyS) and DM. METHODS: Using data regarding adults from the MYONET registry, a cohort of DM patients with anti-Mi2/-TIF1γ/-NXP2/-SAE/-MDA5 autoantibodies, and a cohort of ASyS patients with anti-tRNA synthetase autoantibodies (anti-Jo1/-PL7/-PL12/-OJ/-EJ/-Zo/-KS) were identified. Patients with DM sine dermatitis or with discordant dual autoantibody specificities were excluded. Sub-cohorts of patients with ASyS with or without skin involvement were defined based on presence of DM-type rashes (heliotrope rash, Gottron's papules/sign, violaceous rash, shawl sign, V-sign, erythroderma, and/or periorbital rash). RESULTS: In total 1054 patients were included (DM, n = 405; ASyS, n = 649). In the ASyS cohort, 31% (n = 203) had DM-type skin involvement (ASyS-DMskin). A higher frequency of extramuscular manifestations, including Mechanic's hands, Raynaud's phenomenon, arthritis, interstitial lung disease and cardiac involvement differentiated ASyS-DMskin from DM (all P < 0.001), whereas higher frequency of any of four DM-type rashes-heliotrope rash (n = 248, 61% vs n = 90, 44%), violaceous rash (n = 166, 41% vs n = 57, 9%), V-sign (n = 124, 31% vs n = 28, 4%), and shawl sign (n = 133, 33% vs n = 18, 3%)-differentiated DM from ASyS-DMskin (all P < 0.005). Cancer-associated myositis (CAM) was more frequent in DM (n = 67, 17%) compared with ASyS (n = 21, 3%) and ASyS-DMskin (n = 7, 3%) cohorts (both P < 0.001). CONCLUSION: DM-type rashes are frequent in patients with ASyS; however, distinct clinical manifestations differentiate these patients from classical DM. Skin involvement in ASyS does not necessitate increased malignancy surveillance. These findings will inform future ASyS classification criteria and patient management.
- MeSH
- aminoacyl-tRNA-synthetasy imunologie MeSH
- autoprotilátky * krev imunologie MeSH
- dermatomyozitida * imunologie komplikace MeSH
- dospělí MeSH
- exantém etiologie MeSH
- intersticiální plicní nemoci imunologie etiologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- myozitida * imunologie komplikace MeSH
- nádory komplikace MeSH
- registrace * MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- srovnávací studie MeSH
Genome-wide association studies (GWASs) have been successful at finding associations between genetic variants and human traits, including the immune-mediated diseases (IMDs). However, the requirement of large sample sizes for discovery poses a challenge for learning about less common diseases, where increasing volunteer numbers might not be feasible. An example of this is myositis (or idiopathic inflammatory myopathies [IIM]s), a group of rare, heterogeneous autoimmune diseases affecting skeletal muscle and other organs, severely impairing life quality. Here, we applied a feature engineering method to borrow information from larger IMD GWASs to find new genetic associations with IIM and its subgroups. Combining this approach with two clustering methods, we found 17 IMDs genetically close to IIM, including some common comorbid conditions, such as systemic sclerosis and Sjögren's syndrome, as well as hypo- and hyperthyroidism. All IIM subtypes were genetically similar within this framework. Next, we colocalized IIM signals that overlapped IMD signals, and found seven potentially novel myositis associations mapped to immune-related genes, including BLK, IRF5/TNPO3, and ITK/HAVCR2, implicating a role for both B and T cells in IIM. This work proposes a new paradigm of genetic discovery in rarer diseases by leveraging information from more common IMD, and can be expanded to other conditions and traits beyond IMD.
- MeSH
- autoimunitní nemoci genetika imunologie MeSH
- celogenomová asociační studie * MeSH
- genetická predispozice k nemoci * MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- myozitida * genetika imunologie MeSH
- nemoci imunitního systému genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Myositis International Health and Research Collaborative Alliance (MIHRA) is a newly formed purpose-built non-profit charitable research organization dedicated to accelerating international clinical trial readiness, global professional and lay education, career development and rare disease advocacy in IIM-related disorders. In its long form, the name expresses the community's scope of engagement and intent. In its abbreviation, MIHRA, conveys linguistic roots across many languages, that reflects the IIM community's spirit with meanings such as kindness, community, goodness, and peace. MIHRA unites the global multi-disciplinary community of adult and pediatric healthcare professionals, researchers, patient advisors and networks focused on conducting research in and providing care for pediatric and adult IIM-related disorders to ultimately find a cure. MIHRA serves as a resourced platform for collaborative efforts in investigator-initiated projects, consensus guidelines for IIM assessment and treatment, and IIM-specific career development through connecting research networks.MIHRA's infrastructure, mission, programming and operations are designed to address challenges unique to rare disease communities and aspires to contribute toward transformative models of rare disease research such as global expansion and inclusivity, utilization of community resources, streamlining ethics and data-sharing policies to facilitate collaborative research. Herein, summarises MIHRA operational cores, missions, vision, programming and provision of community resources to sustain, accelerate and grow global collaborative research in myositis-related disorders.
