ABSTRACT
La anemia de Fanconi es un desorden genético recesivo con ambos patrones de herencia, autosómico y ligado al sexo, caracterizada por diferentes malformaciones congénitas, fallo de médula ósea y una elevada predisposición a desarrollar tumores sólidos y leucemia mieloide aguda. Es una enfermedad monogénica con expresión citogenética dada por inestabilidad cromosómica tanto espontánea como provocada por agentes inductores de enlaces cruzados en las cadenas de ADN. Se presentan 2 pacientes masculinos, hermanos, de 5 y 7 años de edad, con malformaciones congénitas e insuficiencia medular. Se les realizó el estudio de rupturas cromosómicas con el uso del diepoxibutano y se observaron múltiples rupturas y figuras radiales, lo que confirmó el diagnóstico.
Fanconi's anemia is a recurrent genetic disorder with both patterns of heredity, autosomal and linked to sex. It is characterized by different congenital malformations, bone marrow failure and an elevated predisposition to develop solid tumors and acute myeloid leukemia. It is a monogenic disease with cytogenetic expression given by chromosomal instability, both spontaneous and provoked by agents inducing cross-links in the DNA chains. Two male siblings aged 5 and 7 years old, with congenital malformations and medullar insufficiency were presented. The study of chromosome rupture was conducted by using diepoxybutane. Multiple ruptures and radial figures were observed, which confirmed the diagnosis.
Subject(s)
Humans , Child, Preschool , Child , Fanconi Anemia/etiology , Chromosomes , Case ReportsABSTRACT
An 8-month old Saudi Arabian boy presented with Diamond Blackfan Anaemia [DBA] and polydactyly. He required support with monthly red blood cell [RBC] transfusions. Although his bone marrow showed erythroblastopenia with giant pro-erythroblasts, examination of a later serum sample showed no evidence of B19 parvovirus DNA, and significant amounts of IgM and lg ti-B19 antibodies. He showed no clinical improvement on a 3-month course of prednisone alone, subsequently followed by concomitant oxymethalone for 5 months. However, a 9 day course of daily infusion of anti lymphocyte globin [ALG] was followed by a significant improvement in haemoglobin. Although he briefly suffered a relapse about 9 months later, he recovered spontaneously and has been in complete remission since. We conclude that some patients with DBA may benefit from treatment with ALG