Nobre Susana, Grazina Manuela, Silva Francisco, Pinto Carla, Gonçalves Isabel, Diogo Luísa
Serviço de Medicina, Unidade de Gastrenterologia eHepatologia, Hospital Pediátrico de Coimbra, Coimbra, Portugal.
BMJ Case Rep. 2012 Apr 2;2012:bcr1220115317. doi: 10.1136/bcr.12.2011.5317.
Deoxyguanosine kinase (dGK) deficiency, a rare severe cause of mitochondrial DNA (mtDNA) depletion, has two forms of presentation: hepatocerebral syndrome and isolated hepatic disease. The authors report three cases with neonatal liver failure due to dGK deficiency. Consanguinity was present in all patients. One patient had a brother who died with a probable diagnosis of neonatal haemochromatosis. All patients had progressive cholestatic liver failure, hypoglycaemia, hyperlactacidaemia, elevated ferritin levels and nystagmus, since first day of life. Liver tissue study revealed: cholestasis, iron deposits, microvesicular steatosis and fibrosis/cirrhosis. Only one patient was submitted to liver transplantation. The other two died, at 2 and 5 months of age. mtDNA quantification and DGUOK gene study should be considered in infants/neonates with acute liver failure and systematically performed in patients with hepatocerebral presentation. Differential diagnosis with neonatal haemochromatosis is needed. Liver transplantation might be a therapeutic option. Early diagnosis is important for genetic counselling.
脱氧鸟苷激酶（dGK）缺乏是线粒体DNA（mtDNA）耗竭的一种罕见严重病因，有两种表现形式：肝脑综合征和孤立性肝病。作者报告了3例因dGK缺乏导致新生儿肝衰竭的病例。所有患者均为近亲婚配。1例患者有1个兄弟，死于可能诊断为新生儿血色素沉着症。所有患者自出生第一天起就出现进行性胆汁淤积性肝衰竭、低血糖、高乳酸血症、铁蛋白水平升高和眼球震颤。肝组织研究显示：胆汁淤积、铁沉积、微泡性脂肪变性和纤维化/肝硬化。仅1例患者接受了肝移植。另外2例分别在2个月和5个月时死亡。对于急性肝衰竭的婴儿/新生儿，应考虑进行mtDNA定量和DGUOK基因研究，对于有肝脑表现的患者应系统地进行此项检查。需要与新生儿血色素沉着症进行鉴别诊断。肝移植可能是一种治疗选择。早期诊断对遗传咨询很重要。
