Churg-Strauss syndrome (CSS) is an anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis; it is extremely rare in childhood and defined according to the Chapel-Hill Consensus as an eosinophil-rich and granulomatous inflammation involving the respiratory tract and necrotizing vasculitis affecting small to medium-sized vessels. Children commonly have a history of asthma and sinusitis whilst clinical presentation typically involves pulmonary tract and less frequently skin, heart, gastrointestinal tract, and peripheral nerves. Cardiopulmonary disease is higher in children and prognosis is worse. It is associated with significant eosinophilia and raised serum IgE-levels. ANCA are only found in 25% of childhood cases. Here we report the case of a 10-year-old girl who presented to us with vomiting, abdominal pain, and weight loss, paresthesias of lower extremities and breathlessness as well as a history of asthma, sinusitis and allergic rhinitis. She was treated with corticosteroids, cyclophosphamide, intravenous immunoglobulin, mycophenolate mofetil (MMF), and rituximab. However, remission was only achieved after initiation of omalizumab therapy, a recombinant humanized anti-IgE antibody. To the best of our knowledge this is the first pediatric patient suffering from CSS successfully managed with adjuvant anti-IgE therapy resulting in the control of respiratory as well as gastrointestinal symptoms.
This study provides practical recommendations on infection screening in pediatric patients with immune-mediated rheumatic diseases and immunosuppressive therapies. For this reason, a qualitative approach was applied. A narrative literature review was performed via Medline. Primary searches were conducted using Mesh and free texts to identify articles that analyzed data on infections and vaccinations in pediatric patients with immune-mediated rheumatic diseases and immunosuppressive therapies. The results were presented and discussed in a nominal group meeting, comprising a committee of 12 pediatric rheumatologists from the infections prevention and treatment working group of the Spanish Society of Pediatric Rheumatology. Several recommendations were generated. A consensus procedure was implemented via a Delphi process that was extended to members of the Spanish Society of Pediatric Rheumatology and Vaccine Advisory Committee of the Spanish Association of Pediatrics. Participants to the process produced a score ranging from 0 = totally disagree to 10 = totally agree. Agreement was considered if at least 70% of participants voted ≥ 7. The literature review included more than 400 articles. Overall, 63 recommendations were generated (21 on infection screening) voted by 59 pediatric rheumatologists and other pediatric specialists, all of them achieving the pre-established agreement level. The recommendations on screening cover all the procedures (serology, assessment of risk factors, and other clinical activities) connected with the screening for infections including tuberculosis; hepatitis A, B, and C viruses; measles; mumps; rubella; diphtheria; and other infections. Conclusion: Screening for infections is an essential part of risk management in pediatric patients with immune-mediated rheumatic diseases and immunosuppressive therapies. What is Known: • Infectious diseases and related complications are a major cause of morbidity and mortality in patients with immune-mediated rheumatic diseases. • At present, practical information on infectious prophylaxis in children with rheumatic diseases is limited, and often extrapolated from children with cancer. What is New: • In the absence of evidence, a literature review and a Delphi survey were conducted to establish a series of expert recommendations that would be useful in clinical practice, providing a practical and simple day-to-day approach to be used by pediatric rheumatologists.
This study aims to provide practical recommendations on prophylaxis for infection in pediatric patients with immune-mediated rheumatic diseases receiving/scheduled to receive immunosuppressive therapy. A qualitative approach was applied. A narrative literature review was performed via Medline. Primary searches were conducted using MeSH terms and free text to identify articles that analyzed data on infections and vaccinations in pediatric patients with immune-mediated rheumatic diseases receiving immunosuppressive therapy. The results were presented and discussed in a nominal group meeting comprising a committee of 12 pediatric rheumatologists from the Prevention and Treatment of Infections Working Group of the Spanish Society of Pediatric Rheumatology. Several recommendations were generated. A consensus procedure was implemented via a Delphi process that was extended to members of the Spanish Society of Pediatric Rheumatology and the Vaccine Advisory Committee of the Spanish Association of Pediatrics. Participants produced a score ranging from 0 (completely disagree) to 10 (completely agree). Agreement was considered to have been reached if at least 70% of participants voted ≥ 7. The literature review included more than 400 articles. Overall, 63 recommendations were generated (23 on infection prophylaxis) and voted by 59 pediatric rheumatologists and other pediatric specialists, all of whom achieved the pre-established level of agreement. The recommendations on prophylaxis of infection cover vaccination and prophylaxis against varicella zoster virus, tuberculosis, Pneumocystis jiroveccii, and invasive fungal infections in pediatric patients with immune-mediated rheumatic diseases receiving/scheduled to receive immunosuppressive therapy. Conclusion: Based on current evidence and a Delphi process, we provided consensus and updated recommendations on prophylaxis and treatment of infections to guide those caring for pediatric rheumatology patients. What is Known: •Data largely derived from adults find that infectious diseases and related complications are a major cause of morbidity and mortality in patients with immune-mediated rheumatic diseases. •It is crucial to be aware of the preventive measures that should be implemented to prevent these infections in children, although most guidelines are often extrapolated from adult cases. What is New: •In the absence of evidence, a literature review and a Delphi survey were conducted to establish a series of expert recommendations that could prove useful in clinical practice, providing a practical and simple day-to-day approach to be used by pediatric rheumatologists. •The recommendations focus on tuberculosis, herpes zoster virus, fungal infections, and Pneumocystis jirovecii.
BackgroundThe choice of the initial biological therapy for patients with suspected autoinflammatory diseases and not conclusive genetic test remains challenging.ObjectivesTo assess the clinical response to the initial biological therapy in pediatric patients with suspected autoinflammatory disease with no genetic diagnosis.MethodsWe retrospectively reviewed the clinical charts of patients followed in our clinic who started empirical biological therapy after being diagnosed with suspected autoinflammatory disease(sAID) due to the intensity of their symptoms and no response to colchicin or FAMEs. Next generation sequencing using an immune deficiency/dysregulation(115 genes) and autoinflammatory panel(12 genes) was negative/inconclusive in all patients.ResultsWe identified 9 patients:6/9 were male, median age at fever onset 1.33 years old IQR(0.46-4), age at diagnosis of sAID 3.8 years old IQR(1.75-7). Clinical presentation included fever(9/9), abdominal pain and arthromyalgia(7/9), aphthous(6/9), headache, rash and adenopathy(5/9), delayed growth(4/9), tonsillitis and pericarditis(3/9) as well as diarrhea and pleuritis(2/9). One patient presented with stroke, cutaneous lesions, vasculopathy and haemolytic uraemic syndrome and 1 patient with amyloidosis and secondary hepatosplenomegaly. None of the children suffered from uveitis or meningitis. The flares lasted a median of 14 days(IQR 8-20). Two patients had persistent symptoms. Their mean/median lab values are shown at table. 4/9 patients had homozygous mutations with uncertain significance, heterozygous mutations or polymorphism but their symptoms or familiar study was not suggestive of the corresponding AID. One patient had an heterozygous mutation in MEFv (p.P3696,p.R408q) and also a CECR1 heterozygous mutation with uncertain significance, one patient had pR92Q heterozygous mutation in TNFRSF1A, one patient had MEFv pR202Q homozygous mutation, other patient had a NOD-2 heterozygous mutation and the patient with amyloidosis hadINO80 deficiency and a NOD2 mutation (p.A918D). All patients responded to steroid therapy; subsequently 8/9 received anti IL-1Receptor kineret as first biological therapy and 1/9 with suspected vasculopathy received anti-TNF. Response to IL-1R antagonist was complete in 3/8 and partial in 4/8 children;1/8 showed no response. 2/8 patients were switched to anti-TNF: One each to etanercept and Infliximab with good response. The patient with amyloidosis was changed to anti IL-6R with incomplete response but clear improvement compared to anti Il-1R response. The patient with suspected vasculopathy and initial anti-TNF treatment had partial response with no recurrent stroke but persistent skin lesions.ConclusionAn important group of patients with sAID lack genetic confirmation. Empirical use of IL-1R antagonist is promising but not effective in all patients as it was observed in our case series,where 5/8 children showed partial or no response,3/5 needing a second biologic treatment in form of anti-TNF due to persistent moderate-severe symptoms.A m...
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