RESUMO
An 8-year-old girl developed ataxia-telangiectasia. Western blotting of lysate revealed absence of the ATM protein, and 2 mutations in the ATM gene were found. Subsequently, the patient developed increased respiratory symptoms. Open lung biopsy revealed lymphocytic interstitial pneumonitis, which is not characteristic of ataxia-telangiectasia. There was a therapeutic response to glucocorticosteroid treatment.
Assuntos
Ataxia Telangiectasia/complicações , Hepatomegalia/etiologia , Imunoglobulina M/sangue , Doenças Pulmonares Intersticiais/etiologia , Esplenomegalia/etiologia , Ataxia Telangiectasia/imunologia , Criança , Feminino , HumanosRESUMO
OBJECTIVE: To describe the diversity in presenting manifestations of systemic lupus erythematosus (SLE) in children. STUDY DESIGN: Initial clinical and laboratory manifestations of 39 children, who fulfilled >/=4 American College of Rheumatology criteria for SLE, were retrospectively analyzed. RESULTS: Median age at onset was 12 years. The male to female ratio was 1:18.5, and racial/ethnic backgrounds were white 41%, black 33%, and Hispanic 26%. Initial manifestations included musculoskeletal 74%, cutaneous 72%, constitutional 67%, neurologic 28%, renal 28%, lymphadenopathy 15%, and Raynaud's phenomenon 10%. Laboratory abnormalities at presentation to our clinic included elevated erythrocyte sedimentation rate 87%, anemia 72%, lymphopenia 59%, leukopenia 31%, proteinuria or cellular casts 44%, low C(3) or C(4) level 77%, antinuclear antibodies 97%, and anti-double-stranded DNA 95%. One third (33%) presented with features not initially suggestive of SLE. Six patients presented with unusual manifestations including parotitis, quadriplegia, chorea, severe abdominal pain, persistent cough, and dizziness. However, 85% of patients with atypical manifestations had abnormal complete blood count or urinalysis results at presentation. CONCLUSION: Presenting manifestations of SLE in children are diverse. A detailed history, thorough review of systems, complete physical examination, complete blood count, urinalysis, and a high index of suspicion help to make the correct diagnosis of SLE in patients with atypical presentations.
Assuntos
Lúpus Eritematoso Sistêmico/diagnóstico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lúpus Eritematoso Sistêmico/complicações , Masculino , Estudos RetrospectivosAssuntos
Transplante de Medula Óssea , Infecções/etiologia , Complicações Pós-Operatórias , Antibacterianos/uso terapêutico , Infecções Bacterianas/etiologia , Medula Óssea/imunologia , Cateteres de Demora/efeitos adversos , Infecções por Chlamydia/etiologia , Infecção Hospitalar/prevenção & controle , Febre/etiologia , Doença Enxerto-Hospedeiro/etiologia , Doença Enxerto-Hospedeiro/imunologia , Humanos , Tolerância Imunológica , Infecções por Mycobacterium/etiologia , Micoses/etiologia , Neutropenia/etiologia , Infecções por Protozoários/etiologia , Fibrose Pulmonar/etiologia , Infecções Estafilocócicas/etiologia , Fatores de Tempo , Viroses/etiologiaRESUMO
Natural killer cell (NK) activity was assessed in patients before and after treatment with intravenously administered immune globulin (IVIG). In eight patients with hypogammaglobulinemia or agammaglobulinemia receiving 300 mg/kg/dose IVIG every 4 weeks, NK activity was significantly lower after therapy than before. In two patients, one with idiopathic thrombocytopenic purpura and one with autoimmune neutropenia, receiving high doses (2 gm/kg) of IVIG, NK activity was unusually high before therapy. After treatment, NK activity decreased in correlation with the clinical response and elevation of peripheral cell counts. These data show that IVIG diminishes NK activity in vivo and that reduction of NK activity may be associated with clinical improvement in idiopathic thrombocytopenic purpura and autoimmune neutropenia. NK activity of lymphocytes obtained from healthy volunteers was reduced by the same concentrations of maltose or sucrose present in Gamimune or Sandoglobulin, respectively; IVIG preparations, however, were more inhibitory. The diminution of NK activity therefore may be related to two components of IVIG preparations, monomeric IgG and maltose or sucrose.
Assuntos
Agranulocitose/terapia , Imunoglobulina G/análogos & derivados , Imunoglobulina G/administração & dosagem , Células Matadoras Naturais/fisiologia , Neutropenia/terapia , Trombocitopenia/terapia , Adolescente , Adulto , Agamaglobulinemia/terapia , Idoso , Complexo Antígeno-Anticorpo/análise , Criança , Pré-Escolar , Feminino , Humanos , Imunoglobulinas Intravenosas , Injeções Intravenosas , Células Matadoras Naturais/efeitos dos fármacos , Masculino , Maltose/farmacologia , Pessoa de Meia-Idade , Neutropenia/imunologia , Sacarose/farmacologia , Trombocitopenia/imunologiaRESUMO
Cellular and humoral components of leukotaxis were studied serially in four male infants with severe combined immunodeficiency disease. Two of the four, both lacking B and T cells initially, had a significant defect in neutrophil and monocyte chemotaxis. The other two, who had a high number of immunoglobulin-bearing cells (B cells), did not have these cellular abnormalities. It contrast, defective generation of chemotactic factor following endotoxin activation was observed in all patients. The defects were corrected coincident with or soon after successful engraftment of either bone marrow or fetal tissues. The reported deficiencies may be another manifestation of the heterogeneity in SCID.