RESUMO
We report the case of a 13-year-old boy with an abrupt onset of leg pain and muscle weakness, incapability of deambulation and a laboratory picture of exercise-induced acute rhabdomyolysis. Intravenous hyperhydration and forced diuresis were adopted to avoid renal complications. No evidence of articular or residual muscular damage was appreciated in the short-term. The recurrence of rhabdomyolysis required a muscular biopsy showing a disturbance of fatty acid ß-oxidation pathway.
Assuntos
Exercício Físico , Erros Inatos do Metabolismo/patologia , Limitação da Mobilidade , Rabdomiólise/patologia , Adolescente , Carnitina O-Palmitoiltransferase/deficiência , Humanos , Masculino , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/fisiopatologia , Debilidade Muscular/etiologia , Debilidade Muscular/patologia , Debilidade Muscular/fisiopatologia , Rabdomiólise/etiologia , Rabdomiólise/fisiopatologiaRESUMO
BACKGROUND: Pleural effusion in systemic lupus erythematous (SLE) is a common symptom, and recent studies demonstrated that IL-6 has a pivotal role in its pathogenesis. CASE PRESENTATION: We report a case of a 15 years old Caucasian boy with a history of persistent pleural effusion without lung involvement or fever. Microbiological and neoplastic aetiologies were previously excluded. Based on the presence of pleuritis, malar rash, reduction of C3 and C4 levels and positivity of antinuclear antibody (ANA) and anti-double stranded DNA (dsDNA), the diagnosis of juvenile SLE (JSLE) was performed. Treatment with high dose of intravenous glucocorticoids and mycophenolate mofetil was started with partial improvement of pleural effusion. Based on this and on adults SLE cases with serositis previously reported, therapy with intravenous tocilizumab (800 mg every two weeks) was started with prompt recovery of pleural effusion. CONCLUSION: To the best of our knowledge, this is the first case of JSLE pleuritis successfully treated with tocilizumab.
Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Derrame Pleural/tratamento farmacológico , Adolescente , Humanos , Lúpus Eritematoso Sistêmico/complicações , Masculino , Derrame Pleural/etiologia , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: To evaluate the impact of early treatment and IL1RN genetic variants on the response to anakinra in systemic juvenile idiopathic arthritis (JIA). METHODS: Response to anakinra was defined as achievement of clinically inactive disease (CID) at 6 months without glucocorticoid treatment. Demographic, clinical, and laboratory characteristics of 56 patients were evaluated in univariate and multivariate analyses as predictors of response to treatment. Six single-nucleotide polymorphisms (SNPs) in the IL1RN gene, previously demonstrated to be associated with a poor response to anakinra, were genotyped by quantitative polymerase chain reaction (qPCR) or Sanger sequencing. Haplotype mapping was performed with Haploview software. IL1RN messenger RNA (mRNA) expression in whole blood from patients, prior to anakinra treatment initiation, was assessed by qPCR. RESULTS: After 6 months of anakinra treatment, 73.2% of patients met the criteria for CID without receiving glucocorticoids. In the univariate analysis, the variable most strongly related to the response was disease duration from onset to initiation of anakinra treatment, with an optimal cutoff at 3 months (area under the curve 84.1%). Patients who started anakinra treatment ≥3 months after disease onset had an 8-fold higher risk of nonresponse at 6 months of treatment. We confirmed that the 6 IL1RN SNPs were inherited as a common haplotype. We found that homozygosity for ≥1 high-expression SNP correlated with higher IL1RN mRNA levels and was associated with a 6-fold higher risk of nonresponse, independent of disease duration. CONCLUSION: Our findings on patients with systemic JIA confirm the important role of early interleukin-1 inhibition and suggest that genetic IL1RN variants predict nonresponse to therapy with anakinra.
Assuntos
Antirreumáticos/uso terapêutico , Artrite Juvenil/tratamento farmacológico , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Artrite Juvenil/genética , Artrite Juvenil/fisiopatologia , Criança , Pré-Escolar , Intervenção Médica Precoce , Feminino , Haplótipos , Homozigoto , Humanos , Proteína Antagonista do Receptor de Interleucina 1/genética , Masculino , Polimorfismo de Nucleotídeo Único , RNA Mensageiro/metabolismo , Tempo para o Tratamento , Resultado do TratamentoAssuntos
Gastroenteropatias/etiologia , Vasculite por IgA/complicações , Linfonodos/patologia , Doenças Linfáticas/etiologia , Criança , Feminino , Gastroenteropatias/diagnóstico , Gastroenteropatias/patologia , Humanos , Vasculite por IgA/patologia , Intestino Delgado/diagnóstico por imagem , Intestino Delgado/patologia , Linfonodos/diagnóstico por imagem , Doenças Linfáticas/patologia , Necrose , Radiografia , UltrassonografiaRESUMO
Abstract A host of clinical scenarios can be depicted in hereditary autoinflammatory diseases, and the cardiovascular system can also be involved especially in familial Mediterranean fever (FMF), caused by mutations in the MEFV gene, and tumour necrosis factor receptor-associated periodic syndrome (TRAPS), caused by mutations in the TNFRSF1A gene. Pericardial diseases are the most represented cardiovascular abnormalities, though the role of MEFV and TNFRSF1A in the initiation of heart involvement has not been demonstrated formally and will be discussed herein.
Assuntos
Doenças Cardiovasculares/etiologia , Febre Familiar do Mediterrâneo/complicações , Doenças Hereditárias Autoinflamatórias/complicações , Doenças Cardiovasculares/fisiopatologia , Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/genética , Febre Familiar do Mediterrâneo/fisiopatologia , Febre , Doenças Hereditárias Autoinflamatórias/genética , Doenças Hereditárias Autoinflamatórias/fisiopatologia , Humanos , Pericardite/etiologia , Pericardite/fisiopatologia , Pirina , Receptores Tipo I de Fatores de Necrose Tumoral/genéticaRESUMO
A 4-year-old girl was hospitalized for psychomotor delay, low vision, and horizontal nystagmus. She was found to have bilateral chorioretinal atrophic scars and 2 large occipital porencephalic cavities. High plasma ornithine levels led to the presumed diagnosis of gyrate atrophy of the choroid and retina. After 6 months of arginine-restricted diet and high-dose pyridoxine (300 mg/d), there was no change of plasma ornithine level or ocular findings. To our knowledge, this is the first report showing an association of porencephaly with gyrate atrophy of the choroid and retina.