Aissa Khaoula, Kamoun Fatma, Sfaihi Lamia, Ghedira Elyes Slim, Aloulou Hajer, Kamoun Thouraya, Pissard Serge, Hachicha Mongia
1Faculté de médecine de Tunis, Université Tunis Elmanar. Hôpital Mohamed Tlatli de Nabeul, pediatrics, Nabeul, Tunisia.
Fetal Pediatr Pathol. 2014 Aug;33(4):234-8. doi: 10.3109/15513815.2014.915365. Epub 2014 May 19.
We have reported the first Tunisian case of triosephosphate isomerase (TPI) deficiency in a 2-year-old girl. She was the first child of a nonconsanguineous couple. The disease included a neonatal onset of chronic hemolytic anemia, recurrent low-respiratory infections then progressive neurological involvement. The diagnosis was made after her death from the TPI values of her parents who exhibited intermediate enzyme deficiency. Molecular study of TPI genes showed that the father and the mother are heterozygous for Glu105Asp mutation. Pediatricians must be alert to the differential diagnosis in patients having hemolytic anemia and other concomitant manifestations.
我们报道了突尼斯首例磷酸丙糖异构酶（TPI）缺乏症病例，患者为一名2岁女童。她是一对非近亲夫妇的第一个孩子。该疾病包括新生儿期起病的慢性溶血性贫血、反复的下呼吸道感染，随后出现进行性神经受累。在她因父母TPI值显示为中间型酶缺乏而死亡后做出了诊断。TPI基因的分子研究表明，父亲和母亲均为Glu105Asp突变的杂合子。儿科医生必须警惕对患有溶血性贫血及其他伴随表现患者的鉴别诊断。
