RESUMO
Lysosomal storage diseases (LSD) are a group of more than 40 disorders, many of them with overlapping phenotype, in which clinical diagnosis is often difficult. Definitive diagnosis is based on enzyme assays, a large number of such assays usually being necessary during the investigation of each patient. In addition, there will frequently be a need for tissue culture in order to provide enough material for analysis. Taking into account these difficulties, we designed a flowchart for the detection of LSD that is based on 2 sets of tests requiring only random urine and heparinized blood. Here we describe this routine and report the results of its application to 105 Brazilian patients in whom a LSD was suspected. We think that the application of this rationale represents a saving of work and costs, and should be of special interest to genetic centers in developing countries.
Assuntos
Lisossomos/enzimologia , Erros Inatos do Metabolismo/diagnóstico , Brasil , Ensaios Enzimáticos Clínicos , Protocolos Clínicos , Testes Diagnósticos de Rotina/métodos , Humanos , Erros Inatos do Metabolismo/sangue , Erros Inatos do Metabolismo/urina , Fatores de Risco , Crânio/anormalidadesRESUMO
Very low serum levels of high density lipoprotein cholesterol ranging from 8.6 to 13.9 mg/dl were detected in four out of 12 sibs of a Brazilian kindred with the non-neuropathic form of Niemann-Pick disease. Hepatosplenomegaly, interstitial infiltration of the lungs, absence of neurological signs, sea-blue histiocytes in the bone marrow and liver, and high values for serum acid phosphatase (18 to 32 U/l) were common to all affected children. Leucocyte acid sphingomyelinase activity ranged from 3.6 to 6.5% of mean control values, and fibroblast activity from 9 to 13% of mean controls. The parents had low-normal levels. The relationship between these findings is unclear and deserves further investigation.
Assuntos
HDL-Colesterol/sangue , Doenças de Niemann-Pick/metabolismo , Síndrome do Histiócito Azul-Marinho/metabolismo , Acetilesterase/análise , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Fibroblastos/enzimologia , Humanos , Leucócitos/enzimologia , Masculino , Pessoa de Meia-Idade , Doenças de Niemann-Pick/complicações , Síndrome do Histiócito Azul-Marinho/complicações , Esfingomielina Fosfodiesterase/deficiência , beta-Galactosidase/análise , beta-Glucosidase/análiseRESUMO
There was a reduction in the B-thromboglobulin content of human blood platelets in patients with leukaemia after chemotherapy which inhibited platelet production. Thus, in these patients, as the circulating platelet population ages, B-thromboglobulin leaks out of, or is actively secreted by, platelets which remain in the circulation.
