Assuntos
Sistema ABO de Grupos Sanguíneos , Incompatibilidade de Grupos Sanguíneos , Sobrevivência de Enxerto , Isoanticorpos , Transplante de Rim/imunologia , Bilirrubina/sangue , Transfusão de Sangue , Hematócrito , Humanos , Transplante de Rim/fisiologia , Contagem de Plaquetas , Complicações Pós-Operatórias , Estudos Retrospectivos , Listas de EsperaRESUMO
We report a family with three members affected by a typically X-linked McLeod syndrome. In the proband a very weak positivity for antigens of the Kell group was detected. His sister showed a normal antigenic pattern. We emphasize the prominent neurological picture characterized by a choreic syndrome with atrophy of the caudate nucleus on MRI, psychiatric disturbances, peripheral nerve and muscle biopsy findings indicating slight neuromuscular involvement, and cardiac abnormalities. The differential diagnosis is discussed.
Assuntos
Cardiomiopatia Dilatada/genética , Coreia/genética , Doenças Neuromusculares/genética , Idoso , Idoso de 80 Anos ou mais , Southern Blotting , Encéfalo/patologia , Cardiomiopatia Dilatada/sangue , Cardiomiopatia Dilatada/patologia , Coreia/sangue , Coreia/patologia , Eletrocardiografia , Eritrócitos/imunologia , Ligação Genética , Humanos , Sistema do Grupo Sanguíneo de Kell/genética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Doenças Neuromusculares/sangue , Doenças Neuromusculares/patologia , Linhagem , Nervo Sural/patologia , Síndrome , Cromossomo XRESUMO
Human leukocyte transketolase of fresh cell extracts has been analyzed by isoelectrofocusing on agarose gels (pH 3-10). The enzyme was then transblotted on nitrocellulose and detected with specific anti-transketolase IgG coupled to an avidin/biotin-immunoperoxidase system. Each sample yielded multiple enzyme forms, within a pI range of about 7.4-8.4. Transketolase profile, however, was not identical in all extracts. There are two mainly distinct patterns, showing qualitative and quantitative differences: a standard profile, which is predominant, and a variant, found in three unrelated subjects out of the two hundred and twenty. Standard and variant enzyme have similar Km values for ribose 5-P and xylulose 5-P and the same mobility on SDS-PAGE.
