RESUMO
A patient with increased chromosome breakage and multiple congenital malformations is described. The lack of any apparent quantitative or qualitative disturbance in hemopoiesis and adequate number of myeloid and erythroid progenitor cells and the absence of certain clinical features such as webbed neck and absence of dark pigmentation in the patient did not support the diagnosis of the Fanconi pancytopenia syndrome. The cytogenetic studies revealed increased chromosome breakage at G1 phase, a finding which is also at variance with that observed in patients with the Fanconi pancytopenia syndrome.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Células da Medula Óssea , Criança , Diagnóstico Diferencial , Síndrome de Fanconi/diagnóstico , Seguimentos , Humanos , Lactente , Interfase , Cariotipagem , Linfócitos/citologia , Masculino , MetáfaseRESUMO
Myeloid and erythroid colony growth of the bone marrow and peripheral blood cells from one anaemic and four non-anaemic patients with Fanconi's anaemia were studied. Markedly decreased myeloid and erythroid colony growth was found in all five patients regardless of their haematological status. The decreased colony formation in non-anaemic patients with Fanconi's anaemia is thought to be due to an intrinsic cellular defect.
Assuntos
Anemia Aplástica/patologia , Medula Óssea/patologia , Anemia de Fanconi/patologia , Adolescente , Adulto , Criança , Ensaio de Unidades Formadoras de Colônias , Eritroblastos , Anemia de Fanconi/sangue , Feminino , Humanos , Masculino , MonócitosRESUMO
Circulating T-lymphocytes from a 13-year-old boy with autoimmune anaemia, severe neutropenia and thrombocytopenia inhibited autologous and normal homologous bone marrow myeloid colony formation in vitro. This inhibition was abolished when the patient's antithymocyte globulin and complement-treated T-lymphocytes were used. T-lymphocytes from normal individuals did not cause such an inhibition. The patient's lymphocytes showed no inhibitory effect on erythroid colony formation. Investigation of the patient's serum failed to disclose any leucoagglutinin, lymphocytotoxin or humoral factor against myeloid colony formation. These findings indicate that T-lymphocytes may play a role in the pathogenesis of neutropenia in immune pancytopenia.
