Odievre M
Service de Pédiatrie, Hôpital Antoine Beclere, Clamart, France.
J Inherit Metab Dis. 1991;14(4):526-30. doi: 10.1007/BF01797922.
Some clinical clues should alert paediatricians to the possibility of metabolic liver diseases. They can be classified into three categories: (i) Manifestations due to hepatocellular necrosis, acute or subacute, which can reveal galactosaemia, hereditary fructose intolerance, tyrosinaemia type I, Wilson disease and alpha 1-antitrypsin deficiency. Symptoms and signs suggestive of Reye syndrome should lead to a study of fatty acid oxidation and urea cycle enzymes. All these manifestations may necessitate a rapid diagnosis and treatment when liver dysfunction is severe. (ii) Cholestatic jaundice can reveal alpha 1-antitrypsin deficiency, Byler's disease, cystic fibrosis, Niemann-Pick disease and some disorders of peroxisome biogenesis. (iii) Hepatomegaly can reveal disorders with liver damage but also storage diseases such as glycogen storage diseases, cholesteryl ester storage disease and, when associated with splenomegaly, lysosomal storage diseases. Appropriate investigations for recognizing all these entities are proposed.
一些临床线索应提醒儿科医生注意代谢性肝病的可能性。它们可分为三类：(i) 急性或亚急性肝细胞坏死的表现，这可能提示半乳糖血症、遗传性果糖不耐受、I型酪氨酸血症、威尔逊病和α1-抗胰蛋白酶缺乏症。提示瑞氏综合征的症状和体征应促使对脂肪酸氧化和尿素循环酶进行研究。当肝功能严重受损时，所有这些表现可能都需要快速诊断和治疗。(ii) 胆汁淤积性黄疸可能提示α1-抗胰蛋白酶缺乏症、比勒氏病、囊性纤维化、尼曼-匹克病和一些过氧化物酶体生物发生障碍。(iii) 肝肿大可能提示有肝损伤的疾病，但也可能提示储存性疾病，如糖原贮积病、胆固醇酯贮积病，当伴有脾肿大时，还可能提示溶酶体贮积病。本文提出了识别所有这些疾病的适当检查方法。
