Madanat F, Arnaout M, Hasan A, Tarawneh M, Shomaf M, Khalayleh F
Department of Pediatrics, Faculty of medicine, University of Jordan, Amman.
Am J Pediatr Hematol Oncol. 1994 Aug;16(3):260-5. doi: 10.1097/00043426-199408000-00014.
Seven children of the same family with a possible variant of Diamond-Blackfan anemia (DBA) are reported. Five were male siblings, and the other two were their cousins, one male and one female. All were products of consanguineous marriages of healthy parents. All cases occurred within one generation. Anemia was present at birth or shortly after birth. Hepatosplenomegaly was present in all. Four had short stature. Hematological findings included normochromic, normocytic, or macrocytic anemia, marked reticulocytopenia, with initial normal white blood cell and platelet count, and absent or markedly decreased erythroid precursors on bone marrow examination. All were treated initially with prednisolone; in one patient oxymetholone was added.
Three children failed to respond to the initial treatment, and also failed to respond to cyclosporin A and pulse doses of methylprednisolone. Myelofibrosis occurred in two siblings, 9 and 11 years from diagnosis. In two children the disease recurred 9 and 12 years after initial diagnosis.
Our cases point to a possible variant of DBA characterized by the presence of normochromic normocytic anemia, hepatosplenomegaly, absent skeletal malformations, and unusual long- term complications.
报告了同一家族的7名儿童，他们可能患有钻石黑范贫血（DBA）变异型。其中5名是男性兄弟姐妹，另外两名是他们的表亲，一男一女。所有患儿均为健康父母近亲结婚所生。所有病例均发生在同一代人中。贫血在出生时或出生后不久出现。所有人都有肝脾肿大。4人身材矮小。血液学检查结果包括正色素性、正细胞性或大细胞性贫血，显著网织红细胞减少，初始白细胞和血小板计数正常，骨髓检查显示红系前体细胞缺失或显著减少。所有患儿最初均接受泼尼松龙治疗；1例患者加用羟甲烯龙。
3名儿童对初始治疗无反应，对环孢素A和大剂量甲泼尼龙脉冲治疗也无反应。两名兄弟姐妹在诊断后9年和11年出现骨髓纤维化。两名儿童在初始诊断后9年和12年疾病复发。
我们的病例提示DBA可能存在一种变异型，其特征为正色素性正细胞性贫血、肝脾肿大、无骨骼畸形以及不寻常的长期并发症。
