Diamond-Blackfan贫血(DBA)是一种与畸形相关的先天性骨髓衰竭综合征。DBA与核糖体生物发生缺陷有关,损害红细胞生成,导致再生性大细胞性贫血.该疾病具有常染色体显性遗传,通常在生命的第一年被诊断出,需要持续治疗。我们介绍一个年轻女子的案例,在21岁时,出现了严重的症状性贫血。虽然,由于畸形,从出生起就怀疑患有先天性综合症,直到患者被转诊至我们中心进行贫血评估后,才做出确诊.在她的新生儿病史中,她出现了贫血,需要输血,但后来保持了稳定,温和,在她的童年和青春期无症状性贫血。她的家族史在其他方面并不引人注目。为了解释有症状的贫血,维生素缺乏,自身免疫性疾病,出血原因,对髓样和淋巴样肿瘤进行了调查和排除。分子研究显示RPL5基因变异c.392dup,p.(Asn131Lysfs*6),确认DBA的诊断。所有家庭成员都有正常的血液值,没有人携带突变。这里,我们将讨论这个案例的不寻常演变,并重新审视文献。
Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. DBA is related to defective ribosome biogenesis, which impairs erythropoiesis, causing hyporegenerative macrocytic anemia. The disease has an autosomal dominant inheritance and is commonly diagnosed in the first year of life, requiring continuous treatment. We present the
case of a young woman who, at the age of 21, developed severe symptomatic anemia. Although, due to malformations, a congenital syndrome had been suspected since birth, a confirmation diagnosis was not made until the patient was referred to our center for an evaluation of her anemia. In her neonatal medical history, she presented with anemia that required red blood cell transfusions, but afterwards remained with a stable, mild, asymptomatic anemia throughout her childhood and adolescence. Her family history was otherwise unremarkable. To explain the symptomatic anemia, vitamin deficiencies, autoimmune diseases, bleeding causes, and myeloid and lymphoid neoplasms were investigated and ruled out. A molecular investigation showed the RPL5 gene variant c.392dup, p.(Asn131Lysfs*6), confirming the diagnosis of DBA. All family members have normal blood values and none harbored the mutation. Here, we will discuss the unusual evolution of this
case and revisit the literature.