RESUMO
OBJECTIVES: To determine whether patients with ataxia-telangiectasia exhibit oropharyngeal dysphagia with concomitant aspiration and to examine the relationships among swallowing function, age, and nutritional status. STUDY DESIGN: Seventy patients (mean age, 10.7 years; range, 1.8 to 30 years) had feeding/swallowing and nutritional evaluations. Fifty-one patients, in whom there were concerns about swallowing safety, were examined with a standardized videofluoroscopic swallow study. RESULTS: Fourteen of the 51 patients (27%) with histories suggestive of dysphagia demonstrated aspiration. Of these, silent aspiration (aspiration without a cough) occurred in 10 (71%) patients. Aspirators were significantly older than non-aspirators (mean age, 16.9 vs 10.8 years; P =.002). Advancing age was the strongest factor associated with aspiration during continuous drinking (P =.01). In patients with ataxia-telangiectasia, weight and weight/height were abnormally low at all ages and most compromised in older patients. Patients who aspirated had significantly lower mean weight (P <.002) and weight/height z scores (P <.001) than did patients who did not aspirate. CONCLUSIONS: Oropharyngeal dysphagia is common and appears to be progressive in patients with ataxia-telangiectasia. Older patients also have a higher incidence of poorer nutritional status. The relationship between dysphagia and nutritional status deserves further investigation.
Assuntos
Ataxia Telangiectasia/complicações , Transtornos de Deglutição/etiologia , Pneumonia Aspirativa/etiologia , Fatores Etários , Ataxia Telangiectasia/fisiopatologia , Criança , Tosse/etiologia , Deglutição/fisiologia , Transtornos de Deglutição/fisiopatologia , Feminino , Humanos , Masculino , Estado Nutricional , Gravação de VideoteipeRESUMO
We examined T-cell proliferation in five patients with X-linked hyper-IgM syndrome (XHIM), using a panel of antigens and lectins. All patients had impaired antigen-induced proliferation, whereas their lectin responses were normal. Thus, in addition to severely depressed antibody responses, patients with XHIM have a defect in antigen-specific T-cell proliferation, which may explain their susceptibility to pathogens such as Pneumocystis carinii.
Assuntos
Antígenos/imunologia , Ligação Genética , Hipergamaglobulinemia/imunologia , Imunoglobulina M , Síndromes de Imunodeficiência/imunologia , Ativação Linfocitária/imunologia , Linfócitos T/imunologia , Cromossomo X , Antígenos de Fungos , Antígenos CD40/genética , Candida/imunologia , Concanavalina A , Criptosporidiose/imunologia , Toxoide Diftérico , Suscetibilidade a Doenças/imunologia , Humanos , Hipergamaglobulinemia/genética , Síndromes de Imunodeficiência/genética , Lectinas , Ligantes , Masculino , Fito-Hemaglutininas , Pneumonia por Pneumocystis/imunologia , Mitógenos de Phytolacca americana , Toxoide TetânicoRESUMO
The Wiskott-Aldrich syndrome is an X-linked primary immunodeficiency originally characterized by the clinical triad of thrombocytopenia, eczema, and immunodeficiency. We collected clinical and laboratory information on 154 unselected patients with Wiskott-Aldrich syndrome to define better the clinical expression of this disorder. The classic triad of thrombocytopenia with small platelets, recurrent otitis media, and eczema was seen in only 27% of the study population; 5% of the study population had only infectious manifestations, and 20% of the study group had only hematologic manifestations before diagnosis. The results of immunologic evaluations varied from one patient to another and the course of the disorder varied tremendously, even within a single kindred. We conclude that many patients with Wiskott-Aldrich syndrome have an atypical presentation and that a panel of diagnostic tests is often required to establish the diagnosis. Two high-risk subgroups were identified in the study population: patients with platelet counts < 10 x 10(9)/L (< 10,000/mm3) at the time of diagnosis were at high risk of bleeding, and patients with autoimmune disorders were at increased risk of having a malignancy.
Assuntos
Doenças Autoimunes/diagnóstico , Síndrome de Wiskott-Aldrich/diagnóstico , Síndrome de Wiskott-Aldrich/terapia , Adolescente , Adulto , Formação de Anticorpos , Doenças Autoimunes/complicações , Doenças Autoimunes/genética , Doenças Autoimunes/imunologia , Doenças Autoimunes/terapia , Transplante de Medula Óssea , Criança , Pré-Escolar , Seguimentos , Ligação Genética , Hemorragia/etiologia , Humanos , Imunoglobulinas Intravenosas , Lactente , Recém-Nascido , Contagem de Linfócitos , Masculino , Neoplasias/etiologia , Fenótipo , Contagem de Plaquetas , Estudos Retrospectivos , Linfócitos T/imunologia , Estados Unidos , Síndrome de Wiskott-Aldrich/complicações , Síndrome de Wiskott-Aldrich/genética , Síndrome de Wiskott-Aldrich/imunologia , Cromossomo XAssuntos
Doença Granulomatosa Crônica/complicações , Pneumonia/complicações , Infecções por Pseudomonas , Adolescente , Criança , Pré-Escolar , Combinação de Medicamentos/uso terapêutico , Humanos , Pneumonia/etiologia , Pseudomonas/patogenicidade , Infecções por Pseudomonas/tratamento farmacológico , Sulfametoxazol/uso terapêutico , Trimetoprima/uso terapêutico , Combinação Trimetoprima e SulfametoxazolAssuntos
Proteínas do Sistema Complemento/genética , Variação Genética , Alelos , Infecções Bacterianas/genética , Infecções Bacterianas/imunologia , Ativação do Complemento , Via Alternativa do Complemento , Via Clássica do Complemento , Proteínas do Sistema Complemento/deficiência , Glomerulonefrite/genética , Glomerulonefrite/imunologia , Antígenos HLA/genética , Humanos , Lúpus Eritematoso Sistêmico/genética , Lúpus Eritematoso Sistêmico/imunologia , Fenótipo , Polimorfismo GenéticoAssuntos
Síndromes de Imunodeficiência/epidemiologia , Pneumocystis/imunologia , Pneumonia/epidemiologia , Quimioterapia Combinada , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/tratamento farmacológico , Lactente , Pneumonia/complicações , Pneumonia/tratamento farmacológico , Sulfametoxazol/uso terapêutico , Inquéritos e Questionários , Trimetoprima/uso terapêutico , Estados UnidosRESUMO
The characteristics of rotavirus infection in 23 children with a variety of primary immunodeficiency diseases were studied. Stools and sera were tested for rotavirus by means of the enzyme-linked immunosorbent assay and the enzyme-linked fluorescent assay, respectively. Four immunodeficient patients had diarrhea during the study period and all had rotavirus infection; rotavirus was not detected in the stools of the 19 asymptomatic immunodeficient patients. Forty-six control children with diarrhea were tested and 22 had rotavirus infection; rotavirus was not detected in 39 asymptomatic control children. One immunodeficient patient with X-linked agammaglobulinemia and one with severe combined immunodeficiency had chronic, symptomatic rotavirus infection with rotavirus excretion lasting more than six weeks. The other two immunodeficient patients and eight control children eliminated the rotavirus from their stools in periods ranging from two to 12 days. Rotavirus antigen was detected in the sera of three of the four immunodeficient patients; none of the 14 control infants tested had rotavirus antigen detected in their sera. This study indicates that rotavirus may produce a chronic infection in immunodeficient children.
Assuntos
Diarreia/complicações , Síndromes de Imunodeficiência/complicações , Viroses/complicações , Adolescente , Criança , Pré-Escolar , Doença Crônica , Diarreia/dietoterapia , Humanos , Lactente , Masculino , Leite Humano , Rotavirus , Viroses/dietoterapiaRESUMO
Patients with deficient antibody-mediated immunity may develop a rare "dermatomyositis-like" syndrome, which is usually progressive and fatal. We have observed a child with hypogammaglobulinemia in whom a dermatomyositis-like syndrome was associated with a fatal, disseminated ECHO 24 infection. This association suggests that in some immunodeficient patients the fatal dermatomyositis-like syndrome is a manifestation of a viral infection in a compromised host. The use of maternal plasma, with a high titer of ECHO 24 neutralizing activity, was unsuccessful in arresting the progress of the infection.
Assuntos
Agamaglobulinemia/complicações , Dermatomiosite/complicações , Infecções por Echovirus/complicações , Pré-Escolar , Infecções por Echovirus/imunologia , Infecções por Echovirus/mortalidade , Infecções por Echovirus/terapia , Humanos , Soros Imunes/administração & dosagem , Imunização Passiva , Masculino , SíndromeAssuntos
Proteínas Opsonizantes/sangue , Esplenectomia , Streptococcus pneumoniae/imunologia , Adolescente , Adulto , Criança , Pré-Escolar , Complemento C3/análise , Complemento C5/análise , História do Século XVIII , Doença de Hodgkin/cirurgia , Humanos , Hipertensão Portal/cirurgia , Imunodifusão , Lactente , Fagocitose , Infecções Pneumocócicas/imunologia , Properdina/análise , Púrpura Trombocitopênica/cirurgia , Baço/anormalidades , Baço/fisiologia , Talassemia/cirurgia , Ferimentos e Lesões/cirurgiaRESUMO
Patients previously described with cartilage-hair hypoplasia, a distinctive form of short-limbed dwarfism, have been found to have deficient cell-mediated immunity with intact antibody-mediated immunity. The patient with cartilage-hair hypoplasia described in the present report is unusual in that she had both deficient antibody-mediated immunity and deficient cell-mediated immunity. In addition, she developed severe, vaccine-related paralytic poliomyelitis. This complication suggests that live viral vaccines should not be administered to children with short-limbed dwarfism until the form of short-limbed dwarfism is established and immunologic evaluation is performed when indicated.