Georgouli H, Schulpis K H, Michelakaki H, Kaltsa M, Sdogou T, Kossiva L
Second Department of Pediatrics, P&A, Kyriakou, Children's Hospital, Athens University, Athens, Greece.
BMJ Case Rep. 2010 Dec 29;2010:bcr0720103150. doi: 10.1136/bcr.07.2010.3150.
Hereditary tyrosinaemia type 1 (HT1) is caused by an enzymatic defect in tyrosine metabolism. It is an autosomal recessive disorder and affects both sexes equally. In young infants HT1 can present as severe liver involvement and in older infants as liver failure and renal tubular dysfunction together with growth failure and rickets. The authors report the case of a 5-month-old, previously healthy, male infant who presented with Escherichia coli sepsis and severe coagulopathy due to liver dysfunction. Despite the early diagnosis of HT1 and treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC), the patient died from severe coagulopathy and multi-organ failure.
1型遗传性酪氨酸血症（HT1）由酪氨酸代谢中的酶缺陷引起。它是一种常染色体隐性疾病，男女发病率相同。在幼儿中，HT1可表现为严重的肝脏受累，而在较大婴儿中则表现为肝功能衰竭、肾小管功能障碍，同时伴有生长发育迟缓及佝偻病。作者报告了一例5个月大、此前健康的男婴病例，该婴儿因肝功能障碍出现大肠杆菌败血症和严重凝血功能障碍。尽管早期诊断为HT1并使用2-（2-硝基-4-三氟甲基苯甲酰基）-1,3-环己二酮（NTBC）进行治疗，但患者仍死于严重凝血功能障碍和多器官衰竭。
