RESUMO
Thrombotic Thrombocytopenic Purpura (TTP) is a thrombotic microangiopathy syndrome resulting from decrease or absence of "a disintegrin and metalloproteinase with a thrombospondin type 1 motif member 13" (ADAMTS13). TTP has been characterized by the classical pentad of thrombocytopenia, hemolysis, fever, renal injury and neurological deficits, yet the patient may present with any atypical symptom related to microthrombi formation in the microcirculation. Here we present a rare case of a young patient with retrosternal chest pain and myocardial injury as the first manifestation of TTP.
Assuntos
Dor no Peito/sangue , Púrpura Trombocitopênica Trombótica/diagnóstico , Troponina T/sangue , Dor no Peito/etiologia , Eletrocardiografia , Humanos , Masculino , Púrpura Trombocitopênica Trombótica/sangue , Púrpura Trombocitopênica Trombótica/complicações , Adulto JovemAssuntos
Diabetes Insípido Neurogênico/complicações , Diabetes Insípido Neurogênico/diagnóstico , Leucemia Mieloide Aguda/complicações , Leucemia Mieloide Aguda/diagnóstico , Poliúria/etiologia , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Desamino Arginina Vasopressina/administração & dosagem , Desamino Arginina Vasopressina/uso terapêutico , Diabetes Insípido Neurogênico/tratamento farmacológico , Diagnóstico Diferencial , Feminino , Humanos , Leucemia Mieloide Aguda/tratamento farmacológico , Pessoa de Meia-Idade , Poliúria/diagnóstico , Resultado do TratamentoRESUMO
Isochromosome of the long arm of the derivative chromosome 17, originating from the translocation t(15;17) [ider(17)(q10)t(15;17) or ider(17q)] in acute promyelocytic leukemia (APL), is a rare chromosome aberration which has been associated with a poor prognosis. In the present study, we report on 4 male APL patients with ider(17q) and review the clinical, cytogenetic and molecular characteristics of all previously reported APL patients with ider(17q) in order to clarify the clinical features and outcome of these patients. The data presented in this study demonstrated that ider(17q), which resulted in an extra RARA-PML fusion gene, was more frequent in males than females (male/female ratio of 2.12/1), was associated with a rather low initial white blood cell count and did not confer an adverse prognosis in APL patients treated with all-trans-retinoic acid and chemotherapy. The most frequent additional chromosome change to ider(17q) was trisomy 8. Ider(17q) was observed in all subtypes of the PML-RARA fusion gene, but the frequency of the bcr1 subtype was increased. Cases of overrepresentation of the RARA-PML fusion gene and ider(17q) cases may help in elucidating the role of RARA-PML in leukemogenesis.