RESUMO
We report 2 cases of myelodysplastic syndrome associated with cirrhosis caused by primary biliary cirrhosis and alpha1-antitrypsin deficiency. The etiology of myelodysplasia and its implication in liver transplantation is discussed.
Assuntos
Cirrose Hepática Biliar/complicações , Falência Hepática/complicações , Síndromes Mielodisplásicas/etiologia , Medula Óssea/patologia , Diagnóstico Diferencial , Feminino , Humanos , Cirrose Hepática Biliar/patologia , Falência Hepática/patologia , Pessoa de Meia-Idade , Pancitopenia/etiologia , alfa 1-Antitripsina/metabolismoRESUMO
Cytogenetic analysis of bone marrow cells was performed on a 2-year-old African-American male with Down syndrome (DS) and myelodysplastic syndrome (MDS), specifically refractory anemia with excess blasts in transformation (RAEB-T). Chromosome analysis showed, in addition to the constitutional trisomy 21, a trisomy of chromosome 11 and a dup(1)(q23q31). This duplication of 1q is apparently a new chromosomal abnormality in a child with MDS. Partial trisomy of the long arm of chromosome 1 has been reported by several authors and appears to represent a nonrandom chromosomal anomaly in patients with MDS/acute myelogenous leukemia and DS.
