Grill J, Leblanc T, Baruchel A, Daniel M T, Dresch C, Schaison G
Unité d'Hématologie Pédiatrique, Hôpital Saint Louis, Paris, France.
Nouv Rev Fr Hematol (1978). 1991;33(6):543-4.
We report a new case of thiamine responsive anemia in a three years old boy with the characteristic association of anemia, diabetes mellitus and deafness. Thiamine therapy corrected anemia as described. A thiamine pyrophosphokinase deficiency (TPK) was found which was not influenced by treatment. However normal levels of thiamine pyrophosphate (TPP) were obtained without correction of all symptoms particularly dyserythropoïesis. Thus, etiology of the syndrome is not only a thiamine pyrophosphokinase deficiency as previously suggested.
我们报告了一例三岁男孩的硫胺素反应性贫血新病例，该病例伴有贫血、糖尿病和耳聋的典型关联。如所述，硫胺素治疗纠正了贫血。发现了硫胺素焦磷酸激酶缺乏症（TPK），其不受治疗影响。然而，尽管硫胺素焦磷酸（TPP）水平恢复正常，但并未纠正所有症状，尤其是异常红细胞生成。因此，该综合征的病因并非如先前所认为的仅是硫胺素焦磷酸激酶缺乏症。
