脱氧鸟苷激酶缺乏症的临床变异和诊断挑战：描述性病例系列。
The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.
机构信息
Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey.
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ankara University Faculty of Medicine, Ankara, Turkey.
出版信息
J Pediatr Endocrinol Metab. 2021 Jun 28;34(10):1341-1347. doi: 10.1515/jpem-2021-0108. Print 2021 Oct 26.
OBJECTIVES
Deoxyguanosine kinase (DGUOK) deficiency is one of the leading causes of the mitochondrial DNA-depletion syndromes (MDDS) associated with hepatocerebral involvement. Herein, we present four cases of DGUOK deficiency to emphasize the clinical variability of disease and the challenges in the diagnosis of DGUOK deficiency.
CASE PRESENTATION
Hepatomegaly, hyperlactatemia, elevated alpha fetoprotein (AFP), alanine, and transaminase levels were detected in all patients, and cholestasis, coagulopathy, and hypotonia were common findings. All patients had a low birth weight, one patient underwent liver transplantation (LT). Clinical and laboratory findings of two patients and one patient suggested neonatal hemochromatosis and type 1 tyrosinemia, respectively. All patients were diagnosed with DGUOK deficiency by performing molecular genetic analysis.
CONCLUSIONS
Mitochondrial DNA-depletion syndromes should be kept in mind in cases in which hypotonicity, lactic acidosis, and neonatal cholestasis are observed. DGUOK deficiency may present in different clinics suggesting neonatal hemochromatosis or tyrosinemia type 1.
目的
脱氧鸟苷激酶（DGUOK）缺乏症是与肝脑受累相关的线粒体 DNA 耗竭综合征（MDDS）的主要原因之一。本文介绍了 4 例 DGUOK 缺乏症病例，旨在强调疾病的临床表现变异性以及 DGUOK 缺乏症诊断的挑战。
病例介绍
所有患者均存在肝肿大、高乳酸血症、甲胎蛋白（AFP）、丙氨酸和转氨酶水平升高，且常见胆汁淤积、凝血功能障碍和低张力。所有患者均为低出生体重儿，1 例患者接受了肝移植（LT）。2 例患者和 1 例患者的临床和实验室检查结果分别提示新生儿血色病和 1 型酪氨酸血症。所有患者均通过分子遗传学分析诊断为 DGUOK 缺乏症。
结论
在出现低张力、酸中毒和新生儿胆汁淤积的情况下，应考虑线粒体 DNA 耗竭综合征。DGUOK 缺乏症可能以不同的临床症状表现出来，类似于新生儿血色病或 1 型酪氨酸血症。
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