Assuntos
Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/patologia , Linfo-Histiocitose Hemofagocítica/genética , Linfo-Histiocitose Hemofagocítica/patologia , Piebaldismo/genética , Piebaldismo/patologia , Proteínas rab27 de Ligação ao GTP/genética , Regiões 5' não Traduzidas , Adolescente , Criança , Feminino , Humanos , Linfócitos/metabolismo , Masculino , Melanócitos/metabolismo , Mutação , Linhagem , Pigmentação/genética , Doenças da Imunodeficiência PrimáriaRESUMO
BACKGROUND: The significance of IgM deposits in glomerular mesangium has been controversial since they were first described due to the variations in the both the definitions used and described impact on clinical outcome. The aim of our study was to evaluate the significance of the IgM deposits in the glomerular mesangium for outcomes of nephrotic syndrome (NS) in children. METHODS: Forty-five children with NS who underwent renal biopsy at tertiary pediatric hospital from January 1st, 2000 to December 31st, 2015 and the pathology diagnosis of minimal change disease, focal segmental glomerulosclerosis and mesangial hypercellularity (MH) were retrospectively analyzed. IgM positivity was defined as ≥1+ imunofluorescence with predominantly mesangial distribution. The patients were stratified into IgM-positive (n = 18) and IgM-negative (n = 27). RESULTS: At the end of the median follow-up 4.5 years (range 0.17-13.14), the IgM-positive group was represented by 11 patients (61.1%) in remission, 3 patients (16.7%) with active disease and normal kidney function, 2 (11.1%) patients with active disease and impaired kidney function, 2 (11.1%) patients on renal replacement therapy. Accordingly, the IgM-negative group included 13 patients (48.1%) in remission, 12 (44.4%) with active disease and normal kidney function, 1 (3.7%) with active disease and impaired kidney function, 1 (3.7%) on renal replacement therapy, with no statistical significance between groups (p = 0.186). CONCLUSIONS: This study did not reveal significant differences of the disease outcomes between IgM-positive and IgM-negative groups.
Assuntos
Mesângio Glomerular/química , Mesângio Glomerular/patologia , Imunoglobulina M/análise , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/terapia , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Imunofluorescência , Seguimentos , Humanos , Lactente , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis. This case report describes a patient with late onset GLUT1-DS with a novel sporadic mutation c.539T>A, p.Met180Lys in exon 5 of the SLC2A1 gene. The dominating clinical features were epilepsy and paroxysmal dyskinesias provoked by infection, emotional stress and fasting. The ictal EEG was characterized by generalized paroxysmal 3-3.5Hz spike-slow wave complexes (absences). Treatment with ketogenic diet showed clinical improvement with the reduction of paroxysmal dyskinesias.
