Mercier J C, Bourrillon A, Beaufils F, Odievre M
Arch Fr Pediatr. 1976 Dec;33(10):945-53.
Four cases of hereditary fructose intolerance with an early onset are reported. The features of acute liver failure in the neonatal period include a haemorrhagic syndrome, collapse, neurological features, hypoglycaemia, disturbed bleeding and clotting studies and abnormal liver function tests. Investigations into the aetiology include a search for bacterial or viral infection but particularly for a metabolic cause: especially for hereditary fructose intolerance which may be difficult to distinguish from tyrosinosis. Finally, methods of treatment are discussed: continuous glucose infusion, exchange transfusion, assisted ventilation, and dietary measures beginning with protein exclusion. The importance of careful observation is stressed (particularly sequential studies of bloodclotting factors).
报告了4例早发性遗传性果糖不耐受病例。新生儿期急性肝衰竭的特征包括出血综合征、虚脱、神经功能特征、低血糖、出血和凝血检查异常以及肝功能检查异常。病因调查包括寻找细菌或病毒感染，但尤其要寻找代谢原因：特别是遗传性果糖不耐受，它可能难以与酪氨酸血症区分开来。最后，讨论了治疗方法：持续输注葡萄糖、换血、辅助通气以及从排除蛋白质开始的饮食措施。强调了仔细观察的重要性（特别是对凝血因子的连续研究）。
