Epizodni angioedem s eozinofilijom, poznat i kao Gleichov sindrom, izuzetno je rijedak poremećaj karakteriziran ponavljajućom pojavom angioedema, urtikarije, vrućice, porastom tjelesne težine, uz ...povišene serumske vrijednosti imunoglobulina M i leukocitozu sa značajnom eozinofilijom. Uzrok i patofiziološki mehanizmi nastanka bolesti nisu u potpunosti razjašnjeni. Javlja se većinom kod djece, odnosno odraslih osoba mlađe životne dobi. Prvi izbor u liječenju jesu glukokortikoidi, a prognoza je većinom dobra. U radu smo prikazali bolesnika kojemu smo na osnovi ponavljajućih epizoda angioedema i febriliteta uz prisustvo leukocitoze s eozinofilijom i povišenih vrijednosti imunoglobulina M postavili dijagnozu Gleichovog sindroma. Bolesnik je nakon primjene glukokortikoida tijekom četiri godine praćenja u stabilnoj remisiji bolesti.
Uvod. IgA vaskulitis (IgAV ) najčešći je sistemski vaskulitis dječje dobi. U više od polovice bolesnika s IgAV -om dolazi do zahvaćanja gastrointestinalnog sustava najčešće u vidu bolova u trbuhu, ...mučnine i povraćanja, a u do 5% bolesnika mogu se razviti ozbiljne komplikacije poput intususcepcije, perforacije crijeva i/ili akutnog krvarenja. Cilj istraživanja bio je utvrditi kliničke i laboratorijske značajke zahvaćenosti gastrointestinalnog sustava u IgAV -u. Materijali i metode. Retrospektivna analiza podataka bolesnika s IgAV -om, dijagnosticiranih i liječenih u Referentnom centru za pedijatrijsku i adolescentnu reumatologiju Ministarstva zdravstva RH u razdoblju od 2009. do 2020. godine, koji su imali zahvaćen gastrointestinalni sustav. Razlike između kategorijskih varijabla ispitane su pomoću χ2 testa, a one između numeričkih Mann-Whitneyevim U-testom. Rezultati. IgAV je dijagnosticiran u 216 bolesnika, od toga 116 dječaka i 100 djevojčica. Gastrointestinalni sustav bio je zahvaćen u 94 bolesnika (43,5%), raspon dobi u trenutku dijagnoze bio je 6,75 (5,2–9) godina, a omjer M:Ž 1,68:1. Najčešći klinički znak zahvaćanja gastrointestinalnog sustava u IgA vaskulitisu bila je bol u trbuhu koju je imalo 45 bolesnika (47,9%). Bolovi u trbuhu bili su najčešće locirani periumbilikalno (62,5%). Jedan bolesnik razvio je ileokoličnu invaginaciju crijeva. Učestalost generaliziranoga purpuričnog osipa (p=0,023) i pojave nefritisa (p=0,001) bila je veća u bolesnika sa zahvaćenim gastrointestinalnim sustavom u usporedbi sa skupinom bolesnika bez zahvaćenog gastrointestinalnog sustava. Ta skupina bolesnika imala je statistički
značajno veći broj leukocita (p=0,021) te niže vrijednosti sedimentacije eritrocita (p=0,039) i ukupnih proteina (p=0,002). Bolesnici sa zahvaćenim gastrointestinalnim sustavom češće su bili muškog spola (p=0,019), imali su dulje trajanje hospitalizacije (p<0,001) i veću učestalost relapsa (p=0,011). Zaključak. Zaključno, gastrointestinalni simptomi u IgAV -u najčešće su samoograničavajući, a komplikacije rijetke. Uočili smo da su bolesnici s gastrointestinalnim simptomima IgA vaskulitisa češće muškog spola, imaju duže trajanje hospitalizacije te veću pojavu nefritisa i relapsa.
The aim of this study was to present our experience
in rituximab therapy in patients with childhood-onset systemic
lupus erythematosus, lupus nephritis, and ANCA-associated vasculitis. We conducted a ...retrospective clinical chart review of all
patients treated with rituximab in the time period from January 2009 to December 2015. Eight patients (3 boys and 5 girls)
aged 8 to 15 at the onset of disease were treated with rituximab.
Remission of disease was accomplished in 4 patients with childhood-onset systemic lupus erythematosus and lupus nephritis, a
partial improvement was achieved in 1 patient with childhoodonset systemic lupus erythematosus and lupus nephritis as well
as in 2 patients with vasculitis, while in one patient with vasculitis treatment with rituximab showed no effect and the patient
died due to Candida sepsis. Reduction of corticosteroid doses
was enabled by rituximab treatment. Rituximab appeared to be
a safe and efficient therapeutic option in severe cases of childhood-onset systemic lupus erythematosus or ANCA-associated
vasculitis that failed to respond to conventional therapy or as a
rescue therapy in life-threatening conditions.
The aim of this study was to present our experience
in rituximab therapy in patients with childhood-onset systemic
lupus erythematosus, lupus nephritis, and ANCA-associated vasculitis.
We conducted a ...retrospective clinical chart review of all
patients treated with rituximab in the time period from January
2009 to December 2015. Eight patients (3 boys and 5 girls)
aged 8 to 15 at the onset of disease were treated with rituximab.
Remission of disease was accomplished in 4 patients with childhood-
onset systemic lupus erythematosus and lupus nephritis, a
partial improvement was achieved in 1 patient with childhoodonset
systemic lupus erythematosus and lupus nephritis as well
as in 2 patients with vasculitis, while in one patient with vasculitis
treatment with rituximab showed no effect and the patient
died due to Candida sepsis. Reduction of corticosteroid doses
was enabled by rituximab treatment. Rituximab appeared to be
a safe and efficient therapeutic option in severe cases of childhood-
onset systemic lupus erythematosus or ANCA-associated
vasculitis that failed to respond to conventional therapy or as a
rescue therapy in life-threatening conditions.
The aim of our study was to analyze clinical features, laboratory findings, treatment, course and outcome of different types of vasculitis in children. All children aged up to 18 years that have been ...diagnosed with a vasculitis disorder from 2002. to 2012. at the Department of Paediatric, University Hospital Centre Zagreb according to EULAR/PRES/PRINTO criteria were included in the study. Vasculitis was diagnosed in 180 children, 101 girls and 79 boys, mean age 7.19 ± 3.7 years, with an average follow-up of 5.58 ± 3.28 years. Most of the children (155 or 86%) were diagnosed with Henoch-Shönlein purpura (HSP), polyarteritis nodosa (PAN) was diagnosed in 6 children (3.3%), isolated cutaneous leukocytoclastic vasculitis in 5 (2.8%), Takayasu arteritis (TA) and Kawasaki disease in 2 (1.1%) respectively, hypocomplementemic urticarial vasculitis in one patient (0.5%) and other types of vasculitis in 10 (5.5%) patients (vasculitides in systemic connective tissue disorders in 7 and unclassified vasculitides in 3 patients). All patients had elevated inflammatory markers (C-reactive protein and erythrocyte sedimentation rate). Anti-neutrophil cytoplasmatic antibodies (ANCA) were positive only in one patient, suffering from microscopic polyangiitis. Treatment modality in most patients were NSAIDs, while children with kidney or gastrointestinal system affection were treated with glucocorticoids and/or immunosuppresive drugs. Biological therapy (anti-CD20, rituximab) was used in patients with most severe symptoms. One child (0.56%), suffering from microscopic polyangiitis, died due to kidney failure during the follow-up. Forty patients (22.6%) had one disease relapse, while 6 (3.4%) had two relapses. In conclusion, we found some differences in laboratory parameters (e.g. lower incidence of elevated antistreptolysin O titer in HSP) and epidemiological data (e.g. higher prevalence of PAN in female children) in comparison to data from available studies, while other clinical features, laboratory findings, disease outcome and treatment were similar.
Biološki lijekovi se primjenjuju u liječenju brojnih autoimunih reumatskih bolesti. U ovom članku prikazujemo dva slučaja ozbiljnih nuspojava liječenja inhibitorima čimbenika nekroze tumora (tumor ...necrosis factor, TNF) kod bolesnika s juvenilnim idiopatskim artritisom (JIA): bolesnice liječene zbog JIA kompliciranog razvojem uveitisa, kod koje se javila milijarna tuberkuloza tijekom liječenja. Nakon liječenja antituberkuloticima došlo je do potpunog oporavka. Njena osnovna bolest je u remisiji. Drugi bolesnik je liječen zbog juvenilnog spondiloartritisa te je razvio upalni proces središnjega živčanog sustava
s ozbiljnim neurološkim posljedicama. Liječen je visokim dozama kortikosteroida koje su potom postupno snižavane. Neurološki ispadi su se dijelom poboljšali, ali su ipak još uvijek prisutni. Slični slučajevi su opisivani i ranije, ali nema preporuka kako bi trebalo liječiti artritis nakon što nastupe takve nuspojave. Željeli bismo naglasiti potrebu stvaranja smjernica za daljnje liječenje artritisa nakon pojave teških nuspojava prilikom liječenja biološkim lijekom.
Juvenile idiopathic arthritis (JIA) is a group of chronic childhood arthritides of unknown origin. Although the use of glucocorticoids and immunosuppressants brought a substantial improvement in ...treatment, the present therapeutic regime could not be considered satisfactory. As inflammation seems to be an essential part of pathogenesis of JIA, efforts have been made to develop pharmaceutical means to mitigate the innate immune system. Emerging targets for treatment are alarmins, a family of multifunctional intracellular proteins with strong pro-inflammatory activity. In the context of JIA, particularly interesting are high mobility group box 1 (HMGB-1) and three members of the S100 family: S100A8, S100A9, and S100A12. No definite conclusion can be made at the time, but both animal models and clinical studies support the concept of alarmins as possible key mediators of JIA. Therefore, pharmacological interference with alarmin pathways could turn out to be an excellent strategy for long-term management of JIA. Several options have been tested and they either inhibit the release of alarmins or sequester the already secreted ones. Although still very few in number, therapeutic experiments on mice are quite optimistic. Thus, it was the purpose of the present review to give an overview of the present knowledge on the topic and to bring this exciting new therapeutic possibility to the focus of rheumatologists.
Vasculitides are rare rheumatic diseases of unknown etiology whose main characteristic is a necrotizing inflammation of blood vessels. We are presenting two patients with Takayasu arteritis (TA) as ...entity forms of rare rheumatic diseases. One patient had TA type IIa and the other type IV. In the first patient we found severe symptoms of obstructive lesions of aortic branches, particularly severe coronary artery stenosis and complete occlusion of the left subclavian artery, and thoracic artery stenosis below the isthmus. The disease was diagnosed in the acute phase, treated extensively with medicaments (glucocorticoids, cytostatics, methotrexate) and a complex cardiac surgical procedure, and due to relapse the biological (Rituximab) therapy was used. The second patient was detected following symptomatic arterial hypertension, with absent pulses of lower limbs, whose cause was found in severe narrowing of the aorta from diaphragm to femoral arteries bifurcation (mid-aortic syndrome). The disease was not active when diagnosis was made. The patient was treated with a particular cardiac surgical procedure and with multiple medicaments due to a relapse. Both patients have reached adolescent age and are successfully treated with a satisfying quality of life. Type IIa with an additional occlusion of coronary arteries is not described in the available literature. Forementioned vasculitides emphasize the importance of pediatric cardiologists and rheumatologists teamwork.
The purpose of this work was to show the importance of myocardial bioptate analysis using different methods in the diagram of diagnostic flow in primary cardiomyopathies in children. According to the ...guidelines of the Task Force on Cardiomyopathies of the WHO/ISFC, we identified 121 children (50 f and 71 m) as having cardiomyopathy, giving an average occurrence for all cardiomyopathies of 38.81 for each 10,000 pts examined in our outpatient clinics for paediatric cardiology. The dilated cardiomyopathy (DCM) was identified in 52 pts (42.9%), hypertrophic cardiomyopathy (HCM) in 43 pts (35.5%) and restrictive cardiomyopathy (RCM) in 6 pts (4.8%). We placed 11 pts (9.0%) in the group of specific cardiomyopathies. In nine pts (7.4%), it was impossible to classify the cardiomyopathy. Most of those with DCM had been diagnosed prior to the age of 3 years (RR 1.9, 95% CI 1.4-2.47). There were no statistically significant differences in the incidences of DCM as compared to HCM (Z 0.923, p < 0.1779), but we encountered a significantly lower occurrence of RCM (Z 6.044, p < 0.001). The biopsy of endocardium and myocardium was done to confirm the etiology of primary cardiomyopathy in 22 pts, 12 m and 10 f, age 1 to 17 (average age 9.5y). The bioptates were analysed by light microscope (Dallas criteria) in all pts, 13 bioptates by direct immunofluorescence, 8 by immunohystochemical method (two hystochemically by the method of coloring with Kongo red, one by the microscopy in polarised light), 7 by electron microscope, and 5 by PCR method where DNA and RNA of cardiotrophic viruses was used. Out of 10 pts with DCM, in 4 myonecrosis as a consequence of acute myocarditis and in 6 signs of late inflammatory processes, as a consequence of chronic immunologic myocarditis, were found. In 4 of them rebiopsy proved complete healing. In 5 pts with HCM the diagnosis was confirmed hystologically. One bioptate was analysed by electron microscope to rule out mitochondriopathy. Out of 4 pts with RCM due to inflammation, in 3 pathohistological findings proved diagnosis and in one showed primary amyloidosis. In one patient pathohystological finding showed fibroelastosis. In one patient heart tumor (fibroma) has been found.
Sindrom aktivacije makrofaga (MAS) potencijalno je smrtonosna komplikacija sistemskog tipa juvenilnog idiopatskog artritisa (sJIA) uzrokovana prekomjernim, ali neučinkovitim imunim odgovorom. Cilj ...ovoga istraživanja bio je usporediti dijagnostičku mogućnost smjernica HLH-2004 sa smjernicama za MAS iz 2005. godine, kao i s novim skupom klasifi kacijskih kriterija iz 2016. godine u dijagnostici MAS-a koji komplicira sJIA. U istraživanje je bilo uključeno 35 djece u dobi od 1 do 18 godina kojima je postavljena dijagnoza sJIA prema kriterijima ILAR-a i koja su liječena u Klinici za pedijatriju, Zavodu za imunologiju i reumatologiju Kliničkog bolničkog centra Zagreb u razdoblju od 2009. do 2015. godine. Od 35 bolesnika kojima je postavljena dijagnoza sJIA bilo je 12 djevojčica i 23 dječaka koji su u vrijeme početka bolesti bili prosječne dobi (±SD) 5,51±3,65 godina. Osmero bolesnika imalo je recidiv bolesti. Prema smjernicama iz 2005. godine dijagnoza MAS-a postavljena je u šestero (17,1%) bolesnika sa sJIA. Prema novom skupu klasifi kacijskih kriterija iz 2016. godine dijagnoza MAS-a postavljena je u četvero (11,4%) bolesnika sa sJIA. Dijagnoza MAS-a nije postavljena ni u jednog bolesnika prema smjernicama HLH-2004. U našem istraživanju četvero od šestero bolesnika imalo je MAS na početku sJIA, a u preostalih dvoje on se pojavio tijekom recidiva bolesti. Dvoje bolesnika s MAS-om razvilo je punu kliničku sliku bolesti, dok ih je preostalih četvoro imalo nepotpuna klinička obilježja s manjim odstupanjem u laboratorijskim nalazima. Primjenom različitih dijagnostičkih smjernica utvrdili smo razliku u učestalosti MAS-a. Učestalost je bila nešto viša u usporedbi s postojećim istraživanjima, dok su ostala istraživana obilježja poput kliničkih karakteristika bila slična.
PDF
