Clinical analysis of 11 cases multisystem inflammatory syndrome associated with SARS-CoV-2 Omicron variant infection in children / 中华儿科杂志

Objective: To explore the clinical characteristics, diagnosis, treatment, and follow-up of multisystem inflammatory syndrome in children (MIS-C) related to SARS-CoV-2 Omicron variant infection. Methods: A retrospective analysis was conducted on clinical data of 11 children with MIS-C, who were admitted to the Department of Pediatrics of Peking University First Hospital from December 2022 to January 2023. Clinical characteristics, treatment, and follow-up of MIS-C were summarized in this study. Results: The 11 cases contained 7 boys and 4 girls, with an age of 4.4 (2.0, 5.5) years on admission. All the patients had fever, with a duration of 7(5, 9) days. Other clinical manifestations included rash in 7 cases, conjunctival hyperemia in 5 cases, red lips and raspberry tongue in 3 cases, lymphadenopathy in 3 cases, and swollen fingers and toes in 2 cases. There were 8 cases of digestive symptoms, 8 cases of respiratory symptoms, and 3 cases of nervous system symptoms. Eight patients had multi-system injuries, and one of them had shock presentation. All 11 patients were infected with SARS-CoV-2 Omicron BF.7 variant. The laboratory examination results showed that all cases had elevated inflammatory indicators, abnormal coagulation function and myocardial damage. Six patients had elevated white blood cell counts, 5 cases had liver function abnormalities, 3 cases had kidney function abnormalities, and 8 cases had coronary artery involvement. All 11 patients received anti-infection treatment, of which 3 cases received only 2 g/kg intravenous immunoglobulin (IVIG), while the remaining 8 cases received a combination of IVIG and 2 mg/(kg·d) methylprednisolone. Among the 8 cases with coronary artery disease, 6 cases received low molecular weight heparin anticoagulation therapy. All patients were followed up in 2 weeks after being discharged, and their inflammatory markers had returned to normal by that time. The 8 cases with coronary artery disease and 3 cases with pneumonia showed significant improvement or back to normal at the 4-week follow-up. All patients had no new complications or comorbidities during follow-up of more than 3 months. Conclusions: MIS-C may present with Kawasaki disease-like symptoms, with or without gastrointestinal, neurological, or respiratory symptoms. Elevated inflammatory markers, abnormal coagulation function, and cardiac injury contribute to the diagnosis of MIS-C. IVIG and methylprednisolone were the primary treatments for MIS-C, and a favorable short-term prognosis was observed during a follow-up period of more than 3 months.

Pregnancy-associated neuromyelitis optical spectrum disorder combined with primary Sjögren's syndrome: A critical illness case report / 北京大学学报(医学版)

Central nervous system involvement in primary Sjögren's syndrome (pSS) is less common and usually presents as white matter lesions, neuromyelitis optica spectrum disorder (NMOSD), or transverse myelitis. NMOSD is an immune-mediated inflammatory demyelinating disease of the central nervous system with a high rate of relapse and significant disability. Studies have shown that patients with pSS combined with NMOSD have more severe symptoms and poorer prognosis. Here, we present a case of critical illness in pregnancy-associated NMOSD combined with Sjögren's syndrome. The patient was a 30-year-old pregnant woman with a history of Sjögren's syndrome who was diagnosed with NMOSD. She received combination therapy with steroids, intravenous immunoglobulin (IVIG), and hydroxychloroquine during pregnancy, resulting in partial resolution of numbness below the waist. However, due to irregular medication adherence outside the hospital setting, she developed weakness in her right lower limb accompanied by inability to move it, while her left lower limb still had some mobility but occasional numbness along with urinary and fecal incontinence. Ten days later, she was admitted to the emergency department where an emergency cesarean section was performed to deliver a healthy baby boy. However, her condition worsened postpartum as she developed high fever accompanied by bilateral lower limb paralysis and weakness along with loss of voluntary control over urination and defecation. The patient underwent ano-ther course of treatment consisting of steroids and IVIG; however there was limited improvement in symptoms observed after this intervention. Following administration of rituximab for the first time, the patient developed urinary tract infection which was successfully managed before continuing regular infusions. In later stages the patient could walk slightly with a limp and regained control over urination and defecation, allowing her to resume normal activities. This case suggests that combination therapy with steroids, IVIG, and hydroxychloroquine should be considered for the patients with pregnancy-associated NMOSD combined with Sjögren's syndrome. Rituximab can significantly improve symptoms such as postpartum paralysis in patients with NMOSD, however, there may be a risk of infection associated with its use.

Clinical research of multisystem inflammatory syndrome in children / 中华儿科杂志

Objective: To analyze the clinical characteristics of children with multisystem inflammatory syndrome (MIS-C) associated with SARS-CoV-2 in China, and to improve the understanding of MIS-C among pediatricians. Methods: Case series study.Collect the clinical characteristics, auxiliary examinations, treatment decisions, and prognosis of 64 patients with MIS-C from 9 hospitals in China from December 2022 to June 2023. Results: Among the 64 MIS-C patients, 36 were boys and 28 were girls, with an onset age being 2.8 (0.3, 14.0) years. All patients suffered from fever, elevated inflammatory indicators, and multiple system involvement. Forty-three patients (67%) were involved in more than 3 systems simultaneously, including skin mucosa 60 cases (94%), blood system 52 cases (89%), circulatory system 54 cases (84%), digestive system 48 cases (75%), and nervous system 24 cases (37%). Common mucocutaneous lesions included rash 54 cases (84%) and conjunctival congestion and (or) lip flushing 45 cases (70%). Hematological abnormalities consisted of coagulation dysfunction 48 cases (75%), thrombocytopenia 9 cases (14%), and lymphopenia 8 cases (13%). Cardiovascular lesions mainly affected cardiac function, of which 11 patients (17%) were accompanied by hypotension or shock, and 7 patients (12%) had coronary artery dilatation.Thirty-six patients (56%) had gastrointestinal symptoms, 23 patients (36%) had neurological symptoms. Forty-five patients (70%) received the initial treatment of intravenous immunoglobulin in combination with glucocorticoids, 5 patients (8%) received the methylprednisolone pulse therapy and 2 patients (3%) treated with biological agents, 7 patients with coronary artery dilation all returned to normal within 6 months. Conclusions: MIS-C patients are mainly characterized by fever, high inflammatory response, and multiple organ damage. The preferred initial treatment is intravenous immunoglobulin combined with glucocorticoids. All patients have a good prognosis.

Expression of interleukin-17A in serum of children with intravenous immunoglobulin-resistant Kawasaki disease and its clinical significance / 中国当代儿科杂志

OBJECTIVES@#To study the expression of interleukin-17A (IL-17A) in the serum of children with intravenous immunoglobulin (IVIG)-resistant Kawasaki disease (KD) and its clinical significance.@*METHODS@#A total of 143 children with KD who were hospitalized in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, from June 2021 to June 2022 were enrolled in this prospective study, among whom 115 had IVIG-sensitive KD and 28 had IVIG-resistant KD. After matching for sex and age, 110 children with acute respiratory infectious diseases (fever time ≥5 days but without KD) were enrolled as the control group. The enzyme-linked immunosorbent assay was used to measure the serum level of IL-17A. The levels of white blood cell count (WBC), neutrophil count (NE), platelet count, erythrocyte sedimentation rate, and C-reactive protein (CRP) were measured. The receiver operating characteristic curve was plotted to analyze the value of WBC, NE, CRP, and IL-17A in the prediction of IVIG-resistant KD. The multivariate logistic regression analysis was used to evaluate the predictive factors for resistance to IVIG in children with KD.@*RESULTS@#Before IVIG treatment, the KD group had a significantly higher serum level of IL-17A than the control group (P<0.05), and the children with IVIG-resistant KD had a significantly higher serum level of IL-17A than those with IVIG-sensitive KD (P<0.05). The receiver operating characteristic curve analysis showed that WBC, NE, CRP, and IL-17A had an area under the curve of 0.718, 0.741, 0.627, and 0.840, respectively, in the prediction of IVIG-resistant KD. With serum IL-17A ≥44.06 pg/mL as the cut-off value, IL-17A had a sensitivity of 84% and a specificity of 81% in the prediction of IVIG-resistant KD. The multivariate logistic regression analysis showed that a high serum level of IL-17A was a predictive factor for resistance to IVIG in children with KD (OR=1.161, P=0.001).@*CONCLUSIONS@#Serum IL-17A levels are elevated in children with IVIG-resistant KD, and serum IL-17A level (≥44.06 pg/mL) may have a predictive value for resistance to IVIG in children with KD.

Advances in the Treatment of Glucocorticoid Resistance and Relapsed Immune Thrombocytopenia --Review / 中国实验血液学杂志

Immune thrombocytopenia (ITP) is an immune-mediated acquired hemorrhagic autoimmune disease. At present, the first-line therapeutic drugs for ITP include glucocorticoids and intravenous immunoglobulins. However, about 1/3 of the patients had no response to the first-line treatment, or relapsed after dose reduction or withdrawal of glucocorticoids. In recent years, with the gradual deepening of the understanding on the pathogenesis of ITP, the drugs targeting different pathogenesis continually emerge, including immunomodulators, demethylating agents, spleen tyrosine kinase (SYK) inhibitors and neonatal Fc receptor (FcRn) antagonist. However, most of these drugs are in clinical trials. This review summarized briefly the recent advances in the treatment of glucocorticoids resistance and relapsed ITP, so as to provide reference for the clinical treatments.

Establishment of a risk model for severe adenovirus pneumonia and prospective study of the timing of intravenous immunoglobulin therapy in children / 中国当代儿科杂志

OBJECTIVES@#To develop a risk prediction model for severe adenovirus pneumonia (AVP) in children, and to explore the appropriate timing for intravenous immunoglobulin (IVIG) therapy for severe AVP.@*METHODS@#Medical data of 1 046 children with AVP were retrospectively analyzed, and a risk prediction model for severe AVP was established using multivariate logistic regression. The model was validated with 102 children with AVP. Then, 75 children aged ≤14 years who were considered at risk of developing severe AVP by the model were prospectively enrolled and divided into three groups (A, B and C) in order of visit, with 25 children in each group. Group A received symptomatic supportive therapy only. With the exception of symptomatic supportive therapy, group B received IVIG treatment at a dose of 1g/(kg·d) for 2 consecutive days, before progressing to severe AVP. With the exception of symptomatic supportive therapy, group C received IVIG treatment at a dose of 1 g/(kg·d) for 2 consecutive days after progressing to severe AVP. Efficacy and related laboratory indicators were compared among the three groups after treatment.@*RESULTS@#Age<18.5 months, underlying diseases, fever duration >6.5 days, hemoglobin level <84.5 g/L, alanine transaminase level >113.5 U/L, and co-infection with bacteria were the six variables that entered into the risk prediction model for severe AVP. The model had an area under the receiver operating characteristic curve of 0.862, sensitivity of 0.878, and specificity of 0.848. The Hosmer-Lemeshow test showed good consistency between the predicted values and the actual observations (P>0.05). After treatment, group B had the shortest fever duration and hospital stay, the lowest hospitalization costs, the highest effective rate of treatment, the lowest incidence of complications, the lowest white blood cell count and interleukin (IL)-1, IL-2, IL-6, IL-8, IL-10 levels, and the highest level of tumor necrosis factor alpha (P<0.05).@*CONCLUSIONS@#The risk model for severe AVP established in this study has good value in predicting the development of severe AVP. IVIG therapy before progression to severe AVP is more effective in treating AVP in children.

Predictive value of peripheral blood lymphocyte subsets for children with intravenous immunoglobulin-resistant Kawasaki disease / 中国当代儿科杂志

OBJECTIVES@#Based on peripheral blood lymphocyte subsets and common laboratory test indexes, this study aimed to construct a predictive scoring system for intravenous immunoglobulin (IVIG)-resistant Kawasaki disease (KD).@*METHODS@#Children hospitalized in Tianjin Children's Hospital from January 2021 to March 2023 were included in the study (185 cases of IVIG-sensitive KD and 41 cases of IVIG -resistant KD). Forty-six healthy children matched for age and gender were selected as controls. The relative percentage and absolute counts of peripheral lymphocyte subsets were measured by flow cytometry. Multivariate logistic regression was used to identify the predictive factors for IVIG-resistant KD and to construct a predictive scoring system for predicting IVIG-resistant KD.@*RESULTS@#The multivariate logistic regression analysis showed that CD4+ T cell absolute count, natural killer cell absolute count, serum sodium level, globulin level, and total bilirubin level were identified as predictive factors for IVIG-resistant KD (P<0.05). The predictive scoring system based on these factors achieved a sensitivity of 70.7% and a specificity of 83.8% in predicting IVIG-resistant KD.@*CONCLUSIONS@#Peripheral blood lymphocyte subsets can serve as predictive indicators for IVIG-resistant KD in children. The introduction of this indicator and the establishment of a scoring system based on it can provide a higher accuracy in predicting IVIG-resistant KD in children.

Evidence-based guidelines for the diagnosis and treatment of Kawasaki disease in children in China (2023) / 中国当代儿科杂志

Kawasaki disease (KD) is an acute self-limiting vasculitis, and it is the most common cause of acquired heart disease in children under 5 years old. One of the improvement goals in pediatric quality control work for the year 2023, as announced by the National Health Commission, is to reduce the incidence of cardiac events and KD-related mortality in children with KD. In order to standardize the diagnosis, treatment, and long-term management practices of KD in China, and effectively prevent and reduce the incidence of coronary artery lesions and long-term adverse effects, the guideline working group followed the principles and methods outlined by the World Health Organization and referenced existing evidence and experiences to develop the "Evidence-based guidelines for the diagnosis and treatment of Kawasaki disease in children in China (2023)". The guidelines address the clinical questions regarding the classification and definition of KD, diagnosis of different types of KD, treatment during the acute phase of KD, application of echocardiography in identifying complications of KD, and management of KD combined with macrophage activation syndrome. Based on the best evidence and expert consensus, 20 recommendations were formulated, aiming to provide guidance and decision-making basis for healthcare professionals in the diagnosis and treatment of KD in children.

Relatório de recomendação para adoção de um protocolo estadual para atendimento de casos suspeitos ou confirmados de síndrome inflamatória multissistêmica em adultos (SIM-A) associada à covid-19 / Recommendation report for the adoption of a state protocol for the care of suspected or confirmed cases of multisystemic inflammatory syndrome in adults (SIM-A) associated with covid-19

Este relatório refere-se à análise crítica da Nota Técnica do Ministério da Saúde nº 38/2022-DEIDT/SVS/MS1 apresentada pela DIVE/SES/SC para a elaboração de um Protocolo Estadual de Atendimento para Casos Suspeitos ou Confirmados de Síndrome Inflamatória Multissistêmica em Adultos (SIM-A) associada à Covid-19. Na Nota Técnica emitida pelo Ministério da Saúde consta uma breve contextualização, objetivos da notificação, quadro clínico de SIM-A, definições de casos, exames complementares, exames específicos para COVID-19, manejo clínico, notificação e registro. Este relatório visa avaliar e emitir um parecer técnico embasado em evidências científicas sobre a disponibilização do medicamento Imunoglobulina Humana intravenosa (IGHIV) para o tratamento de SIM-A, fluxo de acesso ao medicamento e avaliação do impacto orçamentário, para posterior elaboração de um Protocolo Estadual para esta síndrome, destinado aos profissionais da saúde, pacientes e gestores do estado de Santa Catarina.

Miocarditis lúpica: reporte de un caso / Lupus myocarditis: a case report / Miocardite lúpica: relato de um caso

El término miocarditis hace referencia a una inflamación del miocardio, que puede tener diversas causas (infecciones, tóxicos, enfermedades autoinmunes). Su diagnóstico es desafiante debido al gran espectro de presentaciones clínicas que puede adoptar, muchas veces imitando patologías más prevalentes como el infarto agudo de miocardio. La miocarditis asociada a enfermedades autoinmunes es poco frecuente, y la importancia de reconocerla radica en que el diagnóstico e inicio temprano del tratamiento son cruciales para mejorar su pronóstico. Presentamos aquí un caso clínico de una perimiocarditis lúpica.

Myocarditis refers to an inflammation of the myocardium, which can have various causes (infections, toxic substances, autoimmune diseases). Its diagnosis is challenging due to the wide spectrum of clinical presentations, often mimicking more prevalent pathologies such as acute myocardial infarction. Myocarditis associated with autoimmune diseases is rare, and the importance of recognizing is that early diagnosis and initiation of treatment are crucial to improve its prognosis. We present here a clinical case of lupus perimyocarditis.

O termo miocardite refere-se a uma inflamação do miocárdio, que pode ter várias causas (infecções, substâncias tóxicas, doenças autoimunes). Seu diagnóstico é desafiador devido ao amplo espectro de apresentações clínicas que pode ter, muitas vezes mimetizando patologias mais prevalentes como o infarto agudo do miocárdio. A miocardite associada a doenças autoimunes é rara, e a importância de reconhecê-la reside no fato de que o diagnóstico precoce e o início do tratamento são cruciais para melhorar seu prognóstico. Apresentamos aqui um caso clínico de perimiocardite lúpica.

Retrospective analysis of infliximab in the treatment of Kawasaki disease / 中华儿科杂志

Objective: To investigate the efficacy and safety of infliximab (IFX) therapy for children with Kawasaki disease. Methods: Sixty-eight children with Kawasaki disease who received IFX therapy in Children's Hospital of Fudan University from January 2014 to April 2021 were enrolled. The indications for IFX administration, changes in laboratory parameters before and after IFX administration, response rate, drug adverse events and complications and outcomes of coronary artery aneurysms (CAA) were retrospectively analyzed. Comparisons between groups were performed with unpaired Student t test or Mann-Whitney U test or chi-square test. Results: Among 68 children with Kawasaki disease, 52 (76%) were males and 16 (24%) were females. The age of onset was 2.1 (0.5, 3.8) years. IFX was administered to: (1) 35 children (51%) with persistent fever who did not respond to intravenous immunoglobulin (IVIG) or steroids, 28 of the 35 children (80%) developed CAA before IFX therapy; (2) 32 children (47%) with continuous progression of CAA; (3) 1 child with persistent arthritis. In all cases, IFX was administered as an additional treatment (the time from the onset of illness to IFX therapy was 21 (15, 30) days) which consisted of second line therapy in 20 (29%), third line therapy in 20 (29%), and fourth (or more) line therapy in 28 (41%). C-reactive protein (8 (4, 15) vs. 16 (8, 43) mg/L, Z=-3.38, P=0.001), serum amyloid protein A (17 (10, 42) vs. 88 (11, 327) mg/L, Z=-2.36, P=0.018) and the percentage of neutrophils (0.39±0.20 vs. 0.49±0.21, t=2.63, P=0.010) decreased significantly after IFX administration. Fourteen children (21%) did not respond to IFX and received additional therapies mainly including steroids and cyclophosphamide. There was no significant difference in gender, age at IFX administration, time from the onset of illness to IFX administration, the maximum coronary Z value before IFX administration, and the incidence of systemic aneurysms between IFX-sensitive group and IFX-resistant group (all P>0.05). Infections occurred in 11 cases (16%) after IFX administration, including respiratory tract, digestive tract, urinary tract, skin and oral infections. One case had Calmette-Guérin bacillus-related adverse reactions 2 months after IFX administration. All of these adverse events were cured successfully. One child died of CAA rupture, 6 children were lost to follow up, the remaining 61 children were followed up for 6 (4, 15) months. No CAA occurred in 7 children before and after IFX treatment, while CAA occurred in 54 children before IFX treatment. CAA regressed in 23 (43%) children at the last follow-up, and the diameter of coronary artery recovered to normal in 10 children. Conclusion: IFX is an effective and safe therapeutic choice for children with Kawasaki disease who are refractory to IVIG or steroids therapy or with continuous progression of CAA.

Association of liver damage with coronary artery lesion and no response to intravenous immunoglobulin in the acute stage of Kawasaki disease / 中国当代儿科杂志

OBJECTIVES@#To summarize the clinical features of liver damage in children in the acute stage of Kawasaki disease (KD), and to investigate the clinical value of liver damage in predicting coronary artery lesion and no response to intravenous immunoglobulin (IVIG) in children with KD.@*METHODS@#The medical data were collected from 925 children who were diagnosed with KD for the first time in Beijing Children's Hospital from January 1, 2016 to December 31, 2017. According to the presence or absence of abnormal alanine aminotransferase (ALT) level on admission, the children were divided into a liver damage group (n=284) and a non-liver damage group (n=641). A logistic regression analysis was used to investigate the clinical value of the indicators including liver damage in predicting coronary artery lesion and no response to IVIG in children with KD.@*RESULTS@#Compared with the non-liver damage group, the liver damage group had a significantly earlier admission time and significantly higher serum levels of inflammatory indicators (P<0.05). The liver damage group had a significantly higher incidence rate of coronary artery lesion on admission than the non-liver damage group (P=0.034). After initial IVIG therapy, the liver damage group had a significantly higher proportion of children with no response to IVIG than the non-liver damage group (P<0.001). In children with KD, coronary artery lesion was associated with the reduction in the hemoglobin level and the increases in platelet count, C-reactive protein, and ALT (P<0.05), and no response to IVIG was associated with limb changes, the reduction in the hemoglobin level, the increases in platelet count, C-reactive protein, and ALT, and coronary artery lesion (P<0.05).@*CONCLUSIONS@#Compared with those without liver damage, the children in the early stage of KD with liver damage tend to develop clinical symptoms early and have higher levels of inflammatory indicators, and they are more likely to have coronary artery lesion and show no response to IVIG treatment.

Pediatric expert consensus on the application of aspirin in Kawasaki disease / 中国当代儿科杂志

Kawasaki disease (KD) is one of the common acquired heart diseases in children aged <5 years and is an acute systemic vasculitis. After nearly 60 years of research, intravenous immunoglobulin combined with oral aspirin has become the first-line treatment for the prevention of coronary artery lesion in acute KD; however, there are still controversies over the role and optimal dose of aspirin. The consensus was formulated based on the latest research findings of KD treatment in China and overseas and comprehensive discussion of pediatric experts in China and put forward recommendations on the dose, usage, and course of aspirin treatment in the first-line treatment of KD.

Association between duration of fever before treatment and intravenous immunoglobulin resistance in Kawasaki disease / 中国当代儿科杂志

OBJECTIVES@#To examine the association between duration of fever before intravenous immunoglobulin (IVIG) treatment and IVIG resistance in children with Kawasaki disease (KD).@*METHODS@#A retrospective analysis was performed on the medical data of 317 children with KD who were admitted from January 2018 to December 2020. According to the duration of fever before IVIG treatment, they were divided into two groups: short fever duration group (≤4 days) with 92 children and long fever duration group (>4 days) with 225 children. According to the presence or absence of IVIG resistance, each group was further divided into a drug-resistance group and a non-drug-resistance group. Baseline data and laboratory results were compared between groups. A multivariate logistic regression analysis was used to identify the influencing factors for IVIG resistance.@*RESULTS@#In the short fever duration group, 19 children (20.7%) had IVIG resistance and 5 children (5.4%) had coronary artery aneurysm, and in the long fever duration group, 22 children (9.8%) had IVIG resistance and 19 children (8.4%) had coronary artery aneurysm, suggesting that the short fever duration group had a significantly higher rate of IVIG resistance than the long fever duration group (P<0.05), while there was no significant difference in the incidence rate of coronary artery aneurysm between the two groups (P>0.05). In the short fever duration group, compared with the children without drug resistance, the children with drug resistance had a significantly lower level of blood sodium and significantly higher levels of procalcitonin, C-reactive protein, and N-terminal B-type natriuretic peptide before treatment (P<0.05). In the long fever duration group, the children with drug resistance had significantly lower levels of blood sodium and creatine kinase before treatment than those without drug resistance (P<0.05). The multivariate logistic regression analysis showed that a reduction in blood sodium level was associated with IVIG resistance in the long fever duration group (P<0.05).@*CONCLUSIONS@#IVIG resistance in children with KD varies with the duration of fever before treatment. A reduction in blood sodium is associated with IVIG resistance in KD children with a duration of fever of >4 days before treatment.

Errores innatos de la inmunidad en adultos / Inborn errors of immunity in adults

Introducción: La inmunodeficiencia común variable es un error innato de la inmunidad que tiene su pico de incidencia en la edad adulta. Se caracteriza por una susceptibilidad aumentada a padecer infecciones respiratorias, autoinmunidad y malignidad, secundario a un estado de hipogammaglobulinemia e inmunodisregulación, causado por mutaciones e interacciones genéticas parcialmente comprendidas. El diagnóstico es de exclusión, tiene una gran heterogeneidad clínica y comúnmente es diagnosticado de forma errónea. Objetivo: Describir un caso clínico de un paciente afectado por un error innato de la inmunidad. Caso clínico: Hombre de 35 años que se presenta a la consulta de Medicina Interna - Inmunología refiriendo un cuadro clínico de 3 años de evolución consistente en múltiples episodios de infecciones sino-pulmonares en los últimos meses, presentaba tos productiva, dificultad respiratoria y pérdida de peso no intencional de aproximadamente 8 kg. Conclusiones: La inmunodeficiencia común variable debe considerarse dentro de los diagnósticos diferenciales en todo paciente que presente alguna de sus manifestaciones clínicas, principalmente aquellas relacionadas con infecciones respiratorias a repetición, antecedente que el paciente puede presentar como relevante en sus consultas de primer nivel con medicina general o con especialistas. Su aproximación diagnóstica consiste en la solicitud de niveles séricos de inmunoglobulinas, prueba de laboratorio de fácil acceso para cualquier clínico independiente de su nivel de atención y su tratamiento se fundamenta en la administración periódica de inmunoglobulina humana exógena de forma endovenosa o subcutánea(AU)

Introduction: Common variable immunodeficiency is an inborn error of immunity that has its peak incidence in adulthood. It is characterized by an increased susceptibility to respiratory infections, autoimmunity and malignancy, secondary to a state of hypogammaglobulinemia and immunodysregulation, caused by mutations and partially understood genetic interactions. The diagnosis is one of exclusion, has great clinical heterogeneity and is commonly misinterpreted. Objective: To describe a clinical case of a patient affected by an inborn error of immunity. Methods: Retrospective description of a case report. Conclusions: Common variable immunodeficiency disorder should be considered within the differential diagnoses in every patient who presents any of its clinical manifestations, mainly those related to recurrent respiratory infections, an antecedent that the patient may present as relevant during the first-level consultations with general medicine physicians or with specialists. Its diagnostic approach consists in measuring serum immunoglobulin levels, an easily accessible laboratory test for any clinic physician regardless of their healthcare level, while its treatment is based on the periodic administration of exogenous human immunoglobulin intravenously or subcutaneously(AU)

Consenso sobre el tratamiento del síndrome inflamatorio multisistémico asociado a COVID-19 / Consensus on treatment of multisystemic inflammatory syndrome associated with COVID-19

La pandemia ocasionada por el nuevo coronavirus (SARS-CoV-2), declarada por la Organización Mundial de la Salud OMS) en marzo de 2020, afecta a un reducido número de pacientes pediátricos, quienes presentan, en su mayoría, compromiso respiratorio leve y evolución favorable. Sin embargo, en niños previamente sanos, comenzó a observarse un aumento de casos definidos como síndrome inflamatorio multisistémico (SIM-C) o similar a Kawasaki (Kawasaki-like) asociado a la enfermedad por el nuevo coronavirus (COVID-19) (KL-C) que evolucionan al shock y requieren internación en la unidad de cuidados intensivos.Los cuadros de SIM-C y los KL-C se caracterizan por fiebre, signos de inflamación, síntomas gastrointestinales y disfunción cardiovascular; las formas graves de presentación tienen mayor incidencia de hipotensión y/o shock. En el laboratorio se observan marcadores de inflamación, hipercoagulabilidad y daño miocárdico. El tratamiento farmacológico de primera línea consiste en la administración de inmunoglobulina por vía intravenosa más ácido acetilsalicílico por vía oral.Se recomienda un abordaje multidisciplinario para un diagnóstico certero y un tratamiento temprano y eficaz para disminuir la morbimortalidad.

The pandemic caused by the SARS-CoV-2 virus declared by the WHO in March 11th 2020, affects a small number of pediatric patients, who mostly present mild respiratory compromise and favorable evolution.However began to be observed in previously healthy children, an increase in cases defined as "Multisystemic Inflammatory Syndrome" (MIS-C) or "Kawasaki-like" post-COVID 19 (KL-C) that evolve to shock and require hospitalization in the Pediatric Intensive Care Unit.MIS-C and KL-C are characterized by fever; signs of inflammation, gastrointestinal symptoms, and cardiovascular dysfunction, associated with sever forms of presentation with higher incidence of hypotension and/or shock. In the laboratory, markers of inflammation, hypercoagulability and myocardial damage are observed. First-line drug treatment consists of intravenous immunoglobulin plus oral acetylsalicylic acid.A multidisciplinary approach is recommended for an accurate diagnosis and an early and effective treatment, in order to reduce morbidity and mortality.

Doença de Kawasaki: Preditores de Resistência à Imunoglobulina Intravenosa e Complicações Cardíacas / Kawasaki Disease: Predictors of Resistance to Intravenous Immunoglobulin and Cardiac Complications

Resumo Fundamento: A doença de Kawasaki (DK) é a principal causa de cardiopatia adquirida em idade pediátrica nos países desenvolvidos. Objetivos: Identificar fatores preditores de resistência à imunoglobulina intravenosa (IGIV), calcular a eficácia dos modelos preditores japoneses e caracterizar as complicações cardíacas. Métodos: Análise retrospectiva dos casos de DK entre janeiro de 2006 e julho de 2018 em um hospital pediátrico português. Foram construídas curvas ROC para encontrar fatores preditores de resistência e utilizada regressão logística multivariada para elaborar o modelo preditor. O nível de significância utilizado foi de 5%. Resultados: Foram incluídos 48 pacientes com mediana de idade de 36 meses. Verificou-se resistência à IGIV em 21%. Ocorreram alterações ecocardiográficas em 46%, com envolvimento coronário em 25%. Como variáveis preditoras de resistência, a proteína C-reativa (PC-R) apresentou uma AUC ROC = 0,789, ponto de corte = 15,1 mg/dL, sensibilidade (S) = 77,8% e especificidade (E) = 78,9%. A velocidade de sedimentação (VS) apresentou uma AUC ROC = 0,781, ponto de corte = 90,5 mm/h, S = 66,7% e E = 85,7%. O modelo com as duas variáveis apresentou valor p = 0,042 e AUC ROC = 0,790. O modelo Kobayashi apresentou S = 63,6% e E = 77,3%; Egami, S = 66,7% e E = 73,1%; e Sano, S = 28,6% e E = 94,1%. Conclusão: A PC-R e a VS são variáveis independentes que mostraram tendência preditora de resistência à IGIV com pontos de corte ótimos de 15,1 mg/dL e 90,5 mm/h, respectivamente. Cerca de metade dos pacientes teve algum tipo de envolvimento cardíaco. Os modelos japoneses não têm utilidade nessa população. (Arq Bras Cardiol. 2021; 116(3):485-491)

Abstract Background: Kawasaki disease (KD) is the leading cause of acquired cardiac disease in children, in developed countries. Objectives: To identify predictive factors for resistance to intravenous immunoglobulin (IVIG), calculate the effectiveness of Japanese predictive models and characterize cardiac complications. Methods: Retrospective analysis of KD cases admitted in a Portuguese paediatric hospital between january 2006 and july 2018. ROC curves were used to determine predictive factors for resistance and the multivariate logistic regression analysis was used to develop the predictive model. A significance level of 5% was used. Results: 48 patients with a median age of 36 months were included. The IVIG resistance was 21%. Echocardiographic anomalies were noted in 46%, with coronary involvement in 25% of the sample population. As predictive variable of resistance, the C-reactive protein (CRP) presented an AUC ROC = 0.789, optimal cut-off value 15.1 mg/dL, sensitivity (Sn) 77.8% and specificity (Sp) 78.9%. The erythrocyte sedimentation rate (ESR) presented an AUC ROC = 0.781, optimal cut-off value 90.5 mm/h, Sn 66.7% and Sp 85.7%. The model with the two variables showed p = 0.042 and AUC ROC = 0.790. Predictive strength of Japanese models were: Kobayashi (Sn 63.6%, Sp 77.3%), Egami (Sn 66.7%, Sp 73.1%), Sano (Sn 28.6%, Sp 94.1%). Conclusion: CRP and ESR are independent variables that were related to IVIG resistance, with optimal cut-off points of 15.1 mg/dL and 90.5 mm/h, respectively. About half of the patients had some form of cardiac involvement. The Japanese models appeared to be inadequate in our population. (Arq Bras Cardiol. 2021; 116(3):485-491)