RESUMO
Shwachman-Diamond syndrome (SDS) is a rare congenital disorder featuring exocrine pancreatic insufficiency, growth retardation, and bone marrow dysfunction. Reports suggest that nearly 25% of all cases are complicated with leukemia. Although stem cell transplantation is the sole option for these patients, successful results are rarely obtained. Poor outcomes are often related to graft failure and cardiac and other organ toxicities. We describe in this report successful unrelated donor bone marrow transplantation for a patient with SDS who progressed to acute myelogenous leukemia. The patient received attenuated intensified chemotherapy because of his intolerance to ordinary chemotherapy and went into remission. Sustained unrelated donor bone marrow engraftment was accomplished after treatment with a reduced amount of cyclophosphamide and antithymocyte globulin with 12 Gy of total body irradiation as a conditioning regimen. To the best of our knowledge, this report is the first to describe unrelated donor bone marrow transplantation with complete engraftment for an SDS patient with myelogenous leukemia.
Assuntos
Doenças da Medula Óssea/terapia , Transplante de Medula Óssea , Insuficiência Pancreática Exócrina/terapia , Transtornos do Crescimento/terapia , Leucemia Mieloide Aguda/terapia , Adulto , Doenças da Medula Óssea/complicações , Insuficiência Pancreática Exócrina/complicações , Transtornos do Crescimento/complicações , Humanos , Leucemia Mieloide Aguda/complicações , MasculinoRESUMO
To clarify the frequency and cause of acute pancreatitis following hematopoietic stem cell transplantation (SCT), we examined retrospectively 57 patients who underwent hematopoietic SCT in our institute from 1984 to 2000. Twelve (21%) of the patients showed an elevated level of serum pancreatic amylase following SCT. However, only 3 patients were clinically diagnosed as having acute pancreatitis. Among these 12 patients, 11 had undergone allogeneic transplantation. Furthermore, patients who had undergone unrelated transplantation (7/16; 44%) tended to show a higher incidence of increased amylase than those who had undergone related transplantation (4/24; 17%). Six patients were at an advanced stage of acute GVHD (grade III or IV) and all showed an elevated level of serum amylase, whereas only four patients showed an elevated serum amylase level among 34 with mild acute GVHD (grade I or II) or without GVHD. Furthermore, five out of 12 patients who showed an increased amylase level were concurrently diagnosed as having viral infection such as cytomegalovirus, adenovirus, or varicella zoster virus. We conclude that pancreatitis following SCT occurs more often than realized, and is mostly subclinical. This is closely associated with severe acute GVHD, and possibly viral infection.
Assuntos
Amilases/sangue , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Pancreatite/etiologia , Doença Aguda , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Doença Enxerto-Hospedeiro/prevenção & controle , Humanos , Lactente , Leucemia/terapia , Masculino , Pancreatite/epidemiologia , Prevalência , Estudos RetrospectivosRESUMO
Kawasaki disease (KD) is a systemic vasculitis and occurs among Japanese children at a high incidence. Serum bilirubin and heme oxygenase-1 (HO-1) expression are known to play a significant role in the protection of vascular endothelial cells. Japanese have unique polymorphic distribution patterns of (TA)7 or G71R of the bilirubin UDP-glucuronosyltransferase (B-UGT) gene and of (GT)n repeats of the HO-1 gene. We investigated the relationship of KD susceptibility with these polymorphisms. There were no significant differences in the distribution of allele frequencies and genotypes of these polymorphisms between KD patients and controls. These polymorphisms are not associated with KD susceptibility.
Assuntos
Glucuronosiltransferase/genética , Heme Oxigenase (Desciclizante)/genética , Síndrome de Linfonodos Mucocutâneos/etiologia , Polimorfismo Genético , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , DNA/sangue , DNA/química , DNA/genética , Análise Mutacional de DNA/métodos , Repetições de Dinucleotídeos/genética , Feminino , Frequência do Gene , Predisposição Genética para Doença/etiologia , Genótipo , Heme Oxigenase-1 , Heterozigoto , Homozigoto , Humanos , Lactente , Japão , Masculino , Proteínas de Membrana , Pessoa de Meia-Idade , Síndrome de Linfonodos Mucocutâneos/enzimologia , Síndrome de Linfonodos Mucocutâneos/genética , Mutação de Sentido Incorreto , Regiões Promotoras Genéticas/genéticaRESUMO
UNLABELLED: A 19-month-old girl developed haemophagocytic lymphohistiocytosis following a measles vaccination. She developed persistent high fever 1 week after vaccination, and then showed pancytopenia, liver dysfunction and hepatosplenomegaly with marked haemophagocytosis. Based on the clinical and laboratory findings, she was diagnosed as having haemophagocytic lymphohistiocytosis probably due to measles vaccination. She did not respond fully to first-line immunosuppressive therapy and required immunochemotherapy with cytotoxic drugs. CONCLUSION: To the best of our knowledge, this is the first detailed report of haemophagocytic lymphohistiocyosis associated with measles vaccination documented in the English literature. Haemophagocytic lymphohistiocyosis should be kept in mind as one of the rare adverse effects of vaccination.