Wendel U, Ruitenbeek W, Bentlage H A, Sengers R C, Trijbels J M
Department of Paediatrics, University Hospital Nijmegen, The Netherlands.
Eur J Pediatr. 1995 Nov;154(11):915-8. doi: 10.1007/BF01957505.
A patient with neonatal expression of severe De Toni-Debré-Fanconi syndrome is presented. Because of early signs of renal tubulopathy together with a large urinary excretion of lactate, 3-hydroxybutyrate and citric acid cycle intermediates, a mitochondrial disorder was suspected and muscle and liver biopsies were performed. Biochemical investigations in both tissues revealed a defect in the respiratory chain at the level of complex III. In this patient renal dysfunction was the primary symptom, and hyperlactataemia, an important clue for a mitochondrial disorder, was lacking. CONCLUSION. Complex III deficiency should be included in the differential diagnosis of neonatal De Toni-Debré-Fanconi syndrome.
本文报告了一名患有严重德托尼-德布雷-范科尼综合征的新生儿患者。由于早期出现肾小管病变迹象，同时尿液中大量排出乳酸、3-羟基丁酸和柠檬酸循环中间产物，怀疑存在线粒体疾病，并进行了肌肉和肝脏活检。对这两种组织的生化研究均显示呼吸链在复合体III水平存在缺陷。在该患者中，肾功能障碍是主要症状，而线粒体疾病的重要线索——高乳酸血症并不存在。结论。复合体III缺乏应纳入新生儿德托尼-德布雷-范科尼综合征的鉴别诊断。
