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13 results on '"Multisystem inflammatory disease"'

1. A retrospective analysis of acute kidney injury in children with post-COVID-19 multisystem inflammatory syndrome: insights into promising outcomes

Author

Hanan El-Halaby, Riham Eid, Ahmed Elagamy, Ahmed El-Hussiny, Fatma Moustafa, Ayman Hammad, and Mayada Zeid

Subjects
Acute kidney injury, Multisystem inflammatory disease, MIS-C, COVID-19, Children, Pediatrics, RJ1-570
Abstract

Abstract Background Acute kidney injury (AKI) in patients with multisystem inflammatory syndrome (MIS), COVID-19 related infection has been increasingly recognized with a paucity of data on AKI incidence, related mortality, and the requirement of renal replacement therapy in children with MIS (MIS-C). Methods This is a retrospective study evaluating the prevalence, severity, management and outcomes of AKI in a cohort of Egyptian children with MIS-children (MIS-C) post-COVID infection. Patients were included if they met the criteria for MIS-C based on CDC guidelines. All patients were evaluated for AKI diagnosis and staging according to the Kidney Disease Improving Global Outcomes (KDIGO) criteria. Results Between March 2021 and June 2023, a total of 655 confirmed COVID-19 cases were admitted and then followed up in our hospital, of whom 138 (21%) were diagnosed with MIS-C. Fifty-one patients developed AKI associated with MIS-C post-COVID infection, 42 of whom were included in the analysis. Thirty-one patients had AKI in a formerly healthy kidney, of whom 51% (16 patients) were classified as KDIGO stage 3, 5 patients needed hemodialysis and 13 needed mechanical ventilation. Higher WBCs count, and serum ferritin on admission were associated with more severe AKI (KDIGO stage 3) (p = 0.04), while multivariate analysis showed high serum ferritin to be independent predictor of more severe AKI (p = 0.02). Two patients (2/31) died during hospital admission, while no residual renal impairment was reported at the time of discharge of patients with previously normal kidney functions. Conclusion More than one-third of patients with MIS-C develop AKI. Avoidance of nephrotoxic drugs, early recognition, and prompt management of AKI, including well-timed commencement of dialysis in MIS-C cases, is associated with favorable outcomes.

Published
2024
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2. A retrospective analysis of acute kidney injury in children with post-COVID-19 multisystem inflammatory syndrome: insights into promising outcomes.

Author

El-Halaby, Hanan, Eid, Riham, Elagamy, Ahmed, El-Hussiny, Ahmed, Moustafa, Fatma, Hammad, Ayman, and Zeid, Mayada

Subjects
COVID-19, MULTISYSTEM inflammatory syndrome, POST-acute COVID-19 syndrome, FERRITIN, MULTIVARIATE analysis, RETROSPECTIVE studies, ACQUISITION of data, SEVERITY of illness index, TREATMENT effectiveness, ARTIFICIAL respiration, MEDICAL records, DESCRIPTIVE statistics, LEUKOCYTE count, HEMODIALYSIS, ACUTE kidney failure, DISEASE complications, EVALUATION, CHILDREN
Abstract

Background: Acute kidney injury (AKI) in patients with multisystem inflammatory syndrome (MIS), COVID-19 related infection has been increasingly recognized with a paucity of data on AKI incidence, related mortality, and the requirement of renal replacement therapy in children with MIS (MIS-C). Methods: This is a retrospective study evaluating the prevalence, severity, management and outcomes of AKI in a cohort of Egyptian children with MIS-children (MIS-C) post-COVID infection. Patients were included if they met the criteria for MIS-C based on CDC guidelines. All patients were evaluated for AKI diagnosis and staging according to the Kidney Disease Improving Global Outcomes (KDIGO) criteria. Results: Between March 2021 and June 2023, a total of 655 confirmed COVID-19 cases were admitted and then followed up in our hospital, of whom 138 (21%) were diagnosed with MIS-C. Fifty-one patients developed AKI associated with MIS-C post-COVID infection, 42 of whom were included in the analysis. Thirty-one patients had AKI in a formerly healthy kidney, of whom 51% (16 patients) were classified as KDIGO stage 3, 5 patients needed hemodialysis and 13 needed mechanical ventilation. Higher WBCs count, and serum ferritin on admission were associated with more severe AKI (KDIGO stage 3) (p = 0.04), while multivariate analysis showed high serum ferritin to be independent predictor of more severe AKI (p = 0.02). Two patients (2/31) died during hospital admission, while no residual renal impairment was reported at the time of discharge of patients with previously normal kidney functions. Conclusion: More than one-third of patients with MIS-C develop AKI. Avoidance of nephrotoxic drugs, early recognition, and prompt management of AKI, including well-timed commencement of dialysis in MIS-C cases, is associated with favorable outcomes. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Neurological manifestations of Kawasaki disease and multisystem inflammatory syndrome in children associated with COVID-19: A comparison of two different clinical entities

Author

A. Mauro, C. Di Mari, F. Casini, T. Giani, M. Sandini, L. Biondi, V. Calcaterra, G. V. Zuccotti, and L. Bernardo

Subjects
Kawasaki disease, multisystem inflammatory disease, neurological involvement, children, COVID-19, Pediatrics, RJ1-570
Abstract

Kawasaki disease (KD) is one of the most frequent idiopathic vasculitis in children, affecting medium- and small-sized vessels. Multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19 has recently emerged as a new systemic hyperinflammatory condition affecting children some weeks after an acute COVID-19 infection. KD and MIS-C share different aspects and differ in many others: patients affected by MIS-C are usually older, with prominent gastrointestinal manifestations, diffuse adenopathy, extensive conjunctivitis, myocardial damage, leukopenia, and thrombocytopenia at the laboratory exams. Both conditions can present neurological complications. The aim of this manuscript is to provide a narrative review of neurological involvement in KD and MIS-C. A comprehensive review literature has been performed, and the main clinical features have been analyzed, contributing to neurological differential diagnosis

Published
2023
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4. Long-term cytokine profile in multisystem inflammatory disease among children.

Author

Calcaterra, Valeria, Loretelli, Cristian, Biganzoli, Davide, Abdelsalam, Ahmed, Marano, Giuseppe, Carelli, Stephana, Fiori, Laura, Mannarino, Savina, D'Auria, Enza, Verduci, Elvira, De Santis, Raffaella, Dilillo, Dario, Fabiano, Valentina, Carlucci, Patrizia, Maghraby, Erika, Messa, Letizia, Cereda, Cristina, Fiorina, Paolo, Biganzoli, Elia, and Zuccotti, Gianvincenzo

Subjects
*MULTISYSTEM inflammatory syndrome in children, *JUVENILE diseases, *CHILD patients, *COVID-19, *POST-infectious disorders
Abstract

• MIS-C is a post-infectious condition following coronavirus disease-19 infection. • The long-term immunological response in MIS-C remains poorly understood. • We analyzed cytokine profiles at diagnosis and during follow-up in pediatric patients with MIS-C. • We recorded an elevated cytokine levels over a 12-month follow-up compared to controls. • The potential implications of elevated cytokine levels for long-term metabolic disorders cannot be excluded. Multisystem inflammatory disease in children (MIS-C) is a post-infectious condition following coronavirus disease-19 infection. Long-term follow-up data suggests that initial clinical severity does not necessarily correlate with long-term outcomes. The long-term immunological response in children with MIS-C remains poorly understood. We analyzed cytokine profiles at diagnosis and during follow-up, in pediatric patients with MIS-C, exploring correlations among cytokine expressions and standard biochemical and hormonal test results. Twenty-five MIS-C patients (mean 9.4 ± 3.9) with complete test results at diagnosis and at 6- and 12-months follow-up were included in the study. Selected cytokines, such as IL-9, eotaxin, IP-10, MIP-1β, RANTES, MCP-1(MCAF), TNF-α, PDGF-B, IL-4, and MIP-1α, were included in the analysis. IP-10, MCP-1 (MCAF), and MIP-1α levels normalized or nearly normalized at 6–12 months, the remaining cytokines, including IL-9, eotaxin, MIP-1β, RANTES, TNF-α, PDGF-B, IL-4, remained higher in MIS-C than in controls at our last follow-up time. At 6 months post-diagnosis, a mild negative correlation between triglycerides and HOMA-IR with MCP-1 (MCAF), IL-4, and Eotaxin was noted. At the 12-month follow-up we found a mild positive correlation of cortisol and ACTH levels with PDGF-B, MIP-1α, and TNF-α. Conversely, a negative correlation between these cytokines with fasting glucose and HOMA-IR was observed. Our study findings highlight a notable cytokine-mediated inflammatory response in pediatric patients with MIS-C, characterized by sustained elevated levels over a 12-month monitoring period compared to the control group. We have identified various interrelationships among different cytokines, as well as correlations between heightened cytokine levels and metabolic and hormonal patterns. The pronounced inflammatory response underscores its involvement in acute organ damage, while its persistence suggests potential implications for long-term metabolic disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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5. COVID-19 in children ranging from asymptomatic to a multi-system inflammatory disease: A single-center study.

Author

Shahin, Walaa, Rabie, Walaa, Alyossof, Osama, Alasiri, Mohammed, Alfaki, Mohamed, Mahmoud, Elamin, Hijazi, Muwaffak, Faraidi, Huda El, and Alahmari, Hassan

Subjects
COVID-19, SYMPTOMS, LYMPHOPENIA, LACTATE dehydrogenase, LENGTH of stay in hospitals
Abstract

Objectives: To identify clinical and laboratory characteristics of the Saudi children with confirmed COVID-19. Methods: Eighty-eight children (0-14 years) with COVID-19 who were admitted to Prince Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia from April to June 2020 were recruited. Results: Mean age was 5.74 ± 4.7 years with 41 (49.4%) males and 42 (50.6%) females. The length of hospital stay (LOS) ranged from 1 to 17 days. The main source of infection was infected family members. Mean values of C-reactive protein (CRP), serum ferritin, and lactate dehydrogenase (LDH) were noticeably above normal. Degree of severity and length of stay was significantly correlated with lymphopenia (r= -0.36; p=0.001), whereas it was positively correlated with absolute neutrophil count and with high inflammatory markers, such as CRP, LDH, and others. Conclusions: Identifying the clinical and laboratory characteristics of the Saudi children with confirmed COVID-19 will improve understanding of this disease's presentation and will help put rapid and proper management strategies into place to face this pandemic. A high index of suspicion is needed for cases presenting with multi-system inflammatory disease, which represented 5.7% of the included study population. [ABSTRACT FROM AUTHOR]

Published
2021
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6. Adamantiades-Behçet Disease

Author

Zouboulis, Christos C., Katsambas, Andreas D., editor, Lotti, Torello M., editor, Dessinioti, Clio, editor, and D’Erme, Angelo Massimiliano, editor

Published
2015
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7. Involvement of nuclear factor kappa-B in development of neonatal onset multisystem inflammatory disease.

Author

Yu, Fei, Chen, Min, and Zhou, Li

Abstract

The present study investigated the relationship between nuclear factor-κB1 gene (NFkB1) and neonatal onset multisystem inflammatory disease (NOMID) among Chinese neonates. We therefore aimed to investigate whether nuclear factor kappa-B involved in development of NOMID among Chinese neonates. Patients with confirm diagnosis of NOMID or healthy neonates was enrolled at Maternal and child health hospital of Hubei province, China. Involvement of poly (ADP-ribose) polymerase-1 (PP-1) and nuclear factor-κB1 was assessed using PCR techniques with the help of DNA sample. A total of 220 Chinese neonates with NOMID, and 220 healthy neonates were completed study. We note that the involvement of del/ins of NFkB1 gene in development of NOMID among Chinese neonates. GG and G SNPs of PP-1 were found responsible for developing NOMID and the individuals with GA SNPs protect responsible for protecting from NOMID. Thus, nuclear factor-κB1 and PP-1 involved in cause of NOMID, and considering as risk of developing is approx. 2 times higher compared to healthy subjects. Our study result shown that polymorphism of nuclear factor-κB1 and PP-1 is involved in development of NOMID in China. Our study suggested that NFkB1 and PP-1 is a possible target for treatment of NOMID; the treatment targeting nuclear NFkB1 and PP-1 is useful for effective patient care. Our study results encourage conducting large trial evaluating role of NFkB1 and PP-1 polymorphism in NOMID. [ABSTRACT FROM AUTHOR]

Published
2020
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8. Kawasaki or Kawasaki-like disease? A debate on COVID-19 infection in children

Author

Mohammad-Salar Hosseini

Subjects
0301 basic medicine, 2019-20 coronavirus outbreak, Pediatrics, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Immunology, Disease, Mucocutaneous Lymph Node Syndrome, 03 medical and health sciences, 0302 clinical medicine, medicine, Severe acute respiratory syndrome coronavirus 2, Humans, Immunology and Allergy, Child, Letter to the Editor, Multisystem inflammatory disease, Pediatric, business.industry, SARS-CoV-2, COVID-19, medicine.disease, 030104 developmental biology, Kawasaki disease, business, Complication, 030215 immunology
Abstract

Kawasaki disease (KD) is an inflammatory syndrome which is generally observed among children. Considering the significant number of COVID-19-positive children presenting with the manifestations of typical/atypical KD, it has been mentioned as a possible complication of COVID-19 infection among the children. However, many of the reported cases do not completely fill the clinical diagnostic criteria, which has made some researchers use the term “Kawasaki-like disease” instead of KD for this state. The current manuscript aims to review the key studies in the field, address the ongoing conflict, and indicate the objective requirements of the further studies., Highlights • Kawasaki disease (KD) is a form of vasculitis, usually observed among children. • Several COVID-19-positive children have presented typical/atypical KD. • Many of the reported cases do not completely fill the clinical diagnostic criteria of KD. • There is ongoing controversy on whether this is a form of KD or a novel inflammatory syndrome.

Published
2021
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9. Gastrointestinal Perspective of Coronavirus Disease 2019 in Children-An Updated Review

Author

Christos Tzivinikos, Javier Martín de Carpi, Emmanuel Mas, Jernej Dolinsek, Mike Thomson, Marco Deganello Saccomani, Ilse Broekaert, Erasmo Miele, Amit Assa, Osvaldo Borrelli, Marc A. Benninga, Assa, Amit, Benninga, Marc A, Borrelli, Osvaldo, Broekaert, Ilse, de Carpi, Javier Martin, Saccomani, Marco Deganello, Dolinsek, Jernej, Mas, Emmanuel, Miele, Erasmo, Thomson, Mike, Tzivinikos, Christos, Ben-Gurion University of the Negev (BGU), University of Amsterdam [Amsterdam] (UvA), Great Ormond Street Hospital for Children [London] (GOSH), University Hospital of Cologne [Cologne], University of Barcelona, University of Verona (UNIVR), University medical centre Maribor (UKC Maribor), Institut de Recherche en Santé Digestive (IRSD ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), 'Federico II' University of Naples Medical School, Sheffield Children's NHS Foundation Trust, Al Jalila Children's Specialty Hospital, Università degli studi di Verona = University of Verona (UNIVR), and SEGUIN, Nathalie

Subjects
Diarrhea, Abdominal pain, paediatric, Gastrointestinal Diseases, medicine.medical_treatment, coronavirus, Peritonitis, Review Article, Liver transplantation, Inflammatory bowel disease, gastrointestinal manifestations, 03 medical and health sciences, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, 0302 clinical medicine, Immune system, 030225 pediatrics, Medicine, Humans, [SDV.MP] Life Sciences [q-bio]/Microbiology and Parasitology, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, SARS-CoV-2, Gastroenterology, COVID-19, medicine.disease, Systemic Inflammatory Response Syndrome, 3. Good health, Systemic inflammatory response syndrome, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Pediatrics, Perinatology and Child Health, Immunology, multisystem inflammatory disease, Pancreatitis, 030211 gastroenterology & hepatology, medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; Gastrointestinal symptoms are common findings in children with severe acute respiratory syndrome coronavirus 2 infection, including vomiting, diarrhoea, abdominal pain, and difficulty in feeding, although these symptoms tend to be mild. The hepato-biliary system and the pancreas may also be involved, usually with a mild elevation of transaminases and, rarely, pancreatitis. In contrast, a late hyper-inflammatory phenomenon, termed multisystem inflammatory syndrome (MIS-C), is characterized by more frequent gastrointestinal manifestations with greater severity, sometimes presenting as peritonitis. Gastrointestinal and hepato-biliary manifestations are probably related to a loss in enterocyte absorption capability and microscopic mucosal damage caused by a viral infection of intestinal epithelial cells, hepatocytes and other cells through the angiotensin conversion enzyme 2 receptor resulting in immune cells activation with subsequent release of inflammatory cytokines. Specific conditions such as inflammatory bowel disease (IBD) and liver transplantation may pose a risk for the more severe presentation of coronavirus disease 2019 (COVID-19) but as adult data accumulate, paediatric data is still limited. The aim of this review is to summarize the current evidence about the effect of COVID-19 on the gastrointestinal system in children, with emphasis on the emerging MIS-C and specific considerations such as patients with IBD and liver transplant recipients.

Published
2021
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10. Gastrointestinal Perspective of Coronavirus Disease 2019 in Children-An Updated Review

Author

Assa A, Benninga MA, Borrelli O, Broekaert I, Martín-de-Carpi J, Saccomani MD, Dolinsek J, Mas E, Miele E, Thomson M, and Tzivinikos C

Subjects
paediatric, coronavirus, multisystem inflammatory disease, gastrointestinal manifestations
Abstract

Gastrointestinal symptoms are common findings in children with severe acute respiratory syndrome coronavirus 2 infection, including vomiting, diarrhoea, abdominal pain, and difficulty in feeding, although these symptoms tend to be mild. The hepato-biliary system and the pancreas may also be involved, usually with a mild elevation of transaminases and, rarely, pancreatitis. In contrast, a late hyper-inflammatory phenomenon, termed multisystem inflammatory syndrome (MIS-C), is characterized by more frequent gastrointestinal manifestations with greater severity, sometimes presenting as peritonitis. Gastrointestinal and hepato-biliary manifestations are probably related to a loss in enterocyte absorption capability and microscopic mucosal damage caused by a viral infection of intestinal epithelial cells, hepatocytes and other cells through the angiotensin conversion enzyme 2 receptor resulting in immune cells activation with subsequent release of inflammatory cytokines. Specific conditions such as inflammatory bowel disease (IBD) and liver transplantation may pose a risk for the more severe presentation of coronavirus disease 2019 (COVID-19) but as adult data accumulate, paediatric data is still limited. The aim of this review is to summarize the current evidence about the effect of COVID-19 on the gastrointestinal system in children, with emphasis on the emerging MIS-C and specific considerations such as patients with IBD and liver transplant recipients.

Published
2021

11. Мультисистемный воспалительный синдром, ассоциированный с COVID-19, у детей

Subjects
sepsis, Kawaski’s disease, SARS-CoV-2, цитокиновый шок, сепсис, болезнь Кавасаки, Pediatrics, Perinatology and Child Health, multisystem inflammatory disease, COVID-19, Medicine (miscellaneous), cytokine shock, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), мультисистемное воспалительное заболевание
Abstract

В апреле 2020 года педиатры Англии сообщили о случаях тяжелого течения заболевания у детей старшего школьного возраста и подростков, характеризующегося лихорадкой, гипотензией, сильной болью в животе и сердечной дисфункцией с подтверждением положительного результата на SARS-CoV-2 инфекцию. По мере распространения пандемии во всем мире педиатры описали необычную системную воспалительную реакцию, которая связана с вирусом SARS-CoV-2 и была часто отсрочена от начала до нескольких недель после острой вирусной инфекции. Представлен обзор современных данных о влиянии и связи коронавирусной инфекции – 2019 (COVID-19) с развитием тяжелого течения болезни и мультисистемным воспалительным синдромом, который включает вовлечение нескольких органов и не ограничивается только повреждением сердца. Представлены определения случаев мультисистемного воспалительного синдрома Центром по контролю заболеваний (США) и ВОЗ. Приведены результаты зарубежных исследований по диагностике, дифференциальной диагностике и лечению у детей., In April 2020, pediatricians in England reported the cases of severe disease in high schools for children and adolescents, characterized by fever, hypotension, severe abdominal pain, and cardiac dysfunction, with confirmation of positive result for SARS-CoV-2 infection. As the pandemic is spreading around the world, different pediatricians describe an unusual systemic inflammatory response associated with the SARS-CoV-2 virus after the beginning of acute viral infection up to several weeks. It is a review of current data on the impact and association of coronavirus infection-2019 (COVID-19) with the development of severe disease and multisystem inflammatory syndrome, which involves several organs and not only heart damage. It also includes definitions of multisystem inflammatory syndrome cases presented by the Center for disease control (USA) and WHO. The results of foreign researchers on diagnostics, differential diagnosis, and treatment in children are cited., Педиатрия. Восточная Европа, Выпуск 3 2020

Published
2020
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12. Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry

Author

I Kone-Paut, Antonella Meini, N Ruperto, Luca Cantarini, Eurofever, A Naselli, Pierre Quartier, Consuelo Modesto, Helen J. Lachmann, L Gerard, Michael Hofer, Brigitte Bader-Meunier, for Printo, Romain Levy, Silvana Martino, Sulaiman M. Al-Mayouf, P Woo, Antonella Insalaco, Seza Ozen, Marco Gattorno, Bénédicte Neven, Alberto Martini, Irina Nikishina, Thomas Schwarz, Joost Frenkel, and Jasmin B Kuemmerle-Deschner

Subjects
Male, Pediatrics, Fever Syndromes, Familial Mediterranean fever, Severity of Illness Index, Cohort Studies, SYNDROMES CAPS, Epidemiology, Immunology and Allergy, LOW-LEVEL MOSAICISM, Registries, Non-U.S. Gov't, Child, NLRP3 MUTATION, CIAS1 MUTATIONS, Research Support, Non-U.S. Gov't, COLD AUTOINFLAMMATORY SYNDROME, Headache, MUCKLE-WELLS-SYNDROME, Arthralgia, Rash, Familial Mediterranean Fever, Europe, Phenotype, Child, Preschool, GENETIC-HETEROGENEITY, Female, medicine.symptom, Papilledema, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Genotype, ARTICULAR SYNDROME, Hearing loss, Hearing Loss, Sensorineural, Immunology, AA AMYLOIDOSIS, Research Support, General Biochemistry, Genetics and Molecular Biology, Familial Mediterranean Fever, Fever Syndromes, Inflammation, Uveitis, Young Adult, Muckle–Wells syndrome, Inflammation, Rheumatology, NLR Family, Pyrin Domain-Containing 3 Protein, Severity of illness, Journal Article, medicine, Humans, Meningitis, Alleles, Germ-Line Mutation, Retrospective Studies, business.industry, Arthritis, Infant, Cryopyrin-associated periodic syndrome, Retrospective cohort study, Myalgia, Exanthema, Conjunctivitis, medicine.disease, Cryopyrin-Associated Periodic Syndromes, MULTISYSTEM INFLAMMATORY DISEASE, Mutation, Carrier Proteins, business
Abstract

Objective To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry, with a focus on genotype-phenotype correlations and predictive disease severity markers. Methods A web-based registry retrospectively collected data on patients with CAPS. Experts in the disease independently validated all cases. Patients carrying NLRP3 variants and germline-mutation-negative patients were included. Results 136 patients were analysed. The median age at disease onset was 9 months, and the median duration of follow-up was 15 years. Skin rash, musculoskeletal involvement and fever were the most prevalent features. Neurological involvement (including severe complications) was noted in 40% and 12% of the patients, respectively, with ophthalmological involvement in 71%, and neurosensory hearing loss in 42%. 133 patients carried a heterozygous, germline mutation, and 3 patients were mutation-negative (despite complete NLRP3 gene screening). Thirty-one different NLRP3 mutations were recorded; 7 accounted for 78% of the patients, whereas 24 rare variants were found in 27 cases. The latter were significantly associated with early disease onset, neurological complications (including severe complications) and severe musculoskeletal involvement. The T348M variant was associated with early disease onset, chronic course and hearing loss. Neurological involvement was less strongly associated with V198M, E311 K and A439 V alleles. Early onset was predictive of severe neurological complications and hearing loss. Conclusions Patients carrying rare NLRP3 variants are at risk of severe CAPS; onset before the age of 6 months is associated with more severe neurological involvement and hearing loss. These findings may have an impact on treatment decisions.

Published
2014
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13. Musculoskeletal Symptoms in Patients With Cryopyrin-Associated Periodic Syndromes: A Large Database Study

Author

Houx , Laetitia, Hachulla , Eric, Kone-Paut , Isabelle, Quartier , Pierre, Touitou , Isabelle, Guennoc , Xavier, Grateau , Gilles, Hamidou , Mohamed, Neven , Bénédicte, Berthelot , Jean-Marie, Lequerré , Thierry, Pillet , Pascal, Lemelle , Irène, Fischbach , Michel, Duquesne , Agnès, Le Blay , Pierre, Le Jeunne , Claire, Stirnemann , Jérome, Bonnet , Christine, Gaillard , Dominique, Alix , Lilian, Touraine , Renaud, Garcier , François, Bedane , Christophe, Jurquet , Anne-Laure, Duffau , Pierre, Smail , Amar, Frances , Camille, Grall-Lerosey , Martine, Cathebras , Pascal, Tran , Tu Anh, Morell-Dubois , Sandrine, Pagnier , Anne, Richez , Christophe, Cuisset , Laurence, Devauchelle-Pensec , Valérie, Service de médecine physique et de réadaptation, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Département de Médecine Interne (DMP - LILLE), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service Pédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHRU Brest - Service de Rhumatologie (CHU - BREST - Rhumato), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Université Paris 13 (UP13)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine interne [Nantes], Université de Nantes (UN)-Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Rhumatologie (Rhumato - HD - NANTES), Hôtel-Dieu de Nantes, Service de rhumatologie [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire Aimé Cotton (LAC), Centre National de la Recherche Scientifique (CNRS)-Université Paris-Sud - Paris 11 (UP11)-École normale supérieure - Cachan (ENS Cachan), Service de Pédiatrie [Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service Néphrologie Pédiatrique, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Remodelage et Reparation du Tissu Renal, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cellules souches mésenchymateuses, environnement articulaire et immunothérapies de la polyarthrite rhumatoide, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1), CHU Necker - Enfants Malades [AP-HP], Mathématiques Appliquées Paris 5 (MAP5 - UMR 8145), Université Paris Descartes - Paris 5 (UPD5)-Institut National des Sciences Mathématiques et de leurs Interactions (INSMI)-Centre National de la Recherche Scientifique (CNRS), Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES), Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, Service de Dermatologie [CHU Limoges], CHU Limoges, Service de Biochimie et Génétique Moléculaire [CHU Limoges], Service de médecine interne et maladies infectieuses [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Saint-André, Service de Néphrologie - Médecine Interne, CHU Amiens-Picardie-hôpital Sud, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de pédiatrie médicale et médecine de l'adolescent [Rouen], Service de Médecine Interne, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Immunologie et Pathologie (EA2216), Université de Brest (UBO)-IFR148, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), École normale supérieure - Cachan (ENS Cachan)-Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Hôpital de Hautepierre [Strasbourg], Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Dupuytren [CHU Limoges], Hôpital Sud [CHU Rennes], CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), CHU Marseille, CHU Amiens-Picardie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Hôpital Claude Huriez [Lille], CHU Lille, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Cochin [AP-HP], Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire de Brest ( CHRU Brest ), Département de Médecine Interne ( DMP - LILLE ), Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Université de Montpellier ( UM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), CHRU Brest - Service de Rhumatologie ( CHU - BREST - Rhumato ), Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé ( LIMICS ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris 13 ( UP13 ), Université de Nantes ( UN ) -Hôtel-Dieu-Centre hospitalier universitaire de Nantes ( CHU Nantes ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Département de Rhumatologie ( Rhumato - HD - NANTES ), Service de rhumatologie [Rouen], CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Laboratoire Aimé Cotton ( LAC ), École normale supérieure - Cachan ( ENS Cachan ) -Université Paris-Sud - Paris 11 ( UP11 ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Montpellier 1 ( UM1 ) -IFR3-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Mathématiques Appliquées à Paris 5 ( MAP5 - UMR 8145 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National des Sciences Mathématiques et de leurs Interactions-Centre National de la Recherche Scientifique ( CNRS ), Agence Nationale de Sécurité Sanitaire, de l'Alimentation, de l'environnement et du Travail ( ANSES ), ANSES - Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail ( ANSES ), CHU Amiens-Picardie-Hôpital Sud, Unité fonctionnelle de dermatologie, CHU Pitié-Salpêtrière [APHP], Immunologie et Pathologie ( EA2216 ), and Université de Brest ( UBO ) -IFR148

Subjects
Adult, Male, musculoskeletal diseases, Adolescent, Databases, Factual, Arthropathy, Young Adult, Genetic heterogeneity, Open label, [ SDV.IMM ] Life Sciences [q-bio]/Immunology, Humans, Child, Cold autoinflammatory syndrome, CIAS1 mutations, Musculoskeletal System, ComputingMilieux_MISCELLANEOUS, Aged, Multisystem inflammatory disease, Arthritis, Infant, Newborn, Long term efficacy, Infant, Myalgia, Middle Aged, Arthralgia, Cryopyrin-Associated Periodic Syndromes, Phenotype, Anakinra, Child, Preschool, Mutation, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Muckle wells syndrome, Articular syndrome
Abstract

International audience; Objective: To determine the type and frequency of musculoskeletal symptoms at onset and during followup of cryopyrin-associated periodic syndromes (CAPS).Methods: We retrospectively recorded the articular and muscular symptoms of patients with CAPS followed up in French hospitals. Data were presented as frequencies or the median (range), and patient groups were compared using chi-square test, Fisher's exact test, and Mann-Whitney test.Results: The study included 133 patients (33 children), 20 with familial cold autoinflammatory syndrome, 88 with Muckle-Wells syndrome, 22 with chronic infantile neurologic, cutaneous, articular syndrome, and 3 with unclassified CAPS. The median age was 35 years (range 0-78 years) at the time of the study, 1 year (range 0-41 years) at symptom onset, and 23 years (range 0-58 years) at diagnosis. The disease was sporadic in 17% of the patients. Cutaneous symptoms predominated at onset (77%), followed by articular symptoms (30%). The p.Thr348Met and p.Arg260Trp NLRP3 mutations were significantly associated with the presence and absence of articular symptoms at onset, respectively. During followup, 86% of the patients had musculoskeletal symptoms, 88% had arthralgia, and 58% had arthritis, but only 9% had joint destruction. Tendinopathies occurred in 21.5% of the patients, tender points in 16.5%, and myalgia in 33%. Only 3 patients had typical knee deformities. Radiographs were rarely obtained. Except for bone deformities, osteoarticular symptoms occurred at similar frequencies in the different CAPS phenotypes.Conclusion: Joint manifestations were frequent in all CAPS phenotypes. Bone deformities were rare. Musculoskeletal manifestations varied within given families but tended to worsen over time.

Published
2015
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