Głąb Ewa, Barg Ewa, Wikiera Beata, Bieniasz Jolanta
Department of Endocrinology and Diabetology for Children and Adolescents, Wrocław Medical University.
Pediatr Endocrinol Diabetes Metab. 2013;19(3):111-4.
Congenital hypoplastic anemia (Diamond-Blakcfan syndrom) is a genetically determined disorder which is manifested in early childhood with selective deficiency of erythrocyte line in bone marrow. Severe anemia usually appears in the first six months of life. Survival depends on blood transfusions, which in consequence lead to hemochromatosis. The most common complications of transfusional hemochromatosis are hepatic cirrhosis, hypopituitarism, hypogonadism, diabetes mellitus, other endocrinopathies, and cardiomyopathy. We present the case of 17 years old girl with congenital hypoplastic anemia and multihormonal insufficiency due to secondary hemochromatosis.
先天性再生障碍性贫血（戴蒙德-布莱克范综合征）是一种由基因决定的疾病，在儿童早期表现为骨髓中红细胞系选择性缺乏。严重贫血通常出现在出生后的头六个月。生存依赖输血，而这会导致血色素沉着症。输血性血色素沉着症最常见的并发症是肝硬化、垂体功能减退、性腺功能减退、糖尿病、其他内分泌疾病和心肌病。我们报告一例17岁女孩，患有先天性再生障碍性贫血，因继发性血色素沉着症导致多种激素缺乏。
