Janik-Moszant A, Bubała H, Stojewska M, Sońta-Jakimczyk D
Katedry i Kliniki Hematologii Dzieciecej i Chemioterapii Slaskiej Akademii Medycznej w Katowicach.
Wiad Lek. 1998;51 Suppl 4:285-8.
Fanconi anaemia (FA) is a rare autosomal recessive disorder. Manifestation of the disease is pleomorphic and may include many congenital malformations and marrow aplasia. Congenital disorders include: skeletal abnormalities, hypo- or hyperpigmentation of the skin, renal or heart anomalies and many others. FA is an invariably fatal disease owing to progressive marrow aplasia or the development of acute leukaemia or squamous cell carcinoma. We present two children with Fanconi anaemia who developed acute lymphoblastic leukaemia in the 4 and 12 year of life.
范可尼贫血(FA)是一种罕见的常染色体隐性疾病。该疾病的表现具有多形性,可能包括许多先天性畸形和骨髓再生障碍。先天性疾病包括:骨骼异常、皮肤色素减退或沉着过度、肾脏或心脏异常等等。由于进行性骨髓再生障碍或急性白血病或鳞状细胞癌的发展,FA是一种必然致命的疾病。我们报告了两名患有范可尼贫血的儿童,他们分别在4岁和12岁时患上了急性淋巴细胞白血病。