Grama Alina, Benţa Gabriel, Niculae Alexandru Stefan, Mititelu Alexandra, Simu Claudia, Fufezan Otilia, Stephenne Xavier, Reding Raymond, de Magnee Catherine, Tambucci Roberto, Sokal Etienne, Pop Tudor Lucian
2nd Pediatric Discipline, Mother and Child Department, "Iuliu Haţieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
Centre of Expertise in Pediatric Liver Rare Disorders, 2nd Pediatric Clinic, Emergency Clinical Hospital for Children, 400177 Cluj-Napoca, Romania.
J Clin Med. 2024 Sep 10;13(18):5356. doi: 10.3390/jcm13185356.
: Deoxyguanosine Kinase (DGUOK) deficiency is a very rare disorder characterized by liver dysfunction, neurological manifestations, and metabolic disorders secondary to severely reduced mitochondrial DNA content. These patients develop early-onset liver failure, and their liver transplantation (LT) indication remains debatable due to the possibility of neurological involvement. : We present the case of a 6-month-old female diagnosed with DGUOK deficiency who developed liver failure. At 9 months, she underwent a living-related LT with an initial favorable evolution under immunosuppression therapy with tacrolimus. Four months after LT, she presented two prolonged bacterial and Rotavirus enteritis episodes. She developed classical post-transplant complications (severe renal tubular acidosis type IV, secondary to the high tacrolimus level, and post-transplant lymphoproliferative disease) during these episodes. Her condition deteriorated progressively, with reversible hypotonia and significant weight loss. However, the neurological evaluation did not reveal any signs suggestive of the progression of the underlying disease. A few months later, her clinical features and laboratory parameters improved considerably. : This case highlights the unpredictable evolution of children with LT for liver failure due to DGUOK deficiency.
脱氧鸟苷激酶（DGUOK）缺乏症是一种非常罕见的疾病，其特征为肝功能障碍、神经学表现以及继发于线粒体DNA含量严重降低的代谢紊乱。这些患者会出现早发性肝衰竭，由于存在神经受累的可能性，其肝移植（LT）指征仍存在争议。：我们报告一例6个月大被诊断为DGUOK缺乏症并出现肝衰竭的女性病例。9个月大时，她接受了亲属活体肝移植，在使用他克莫司进行免疫抑制治疗初期病情进展良好。肝移植后4个月，她出现了两次持续性细菌性和轮状病毒肠炎发作。在这些发作期间，她出现了典型的移植后并发症（IV型严重肾小管酸中毒，继发于高他克莫司水平，以及移植后淋巴细胞增生性疾病）。她的病情逐渐恶化，出现可逆性肌张力减退和明显体重减轻。然而，神经学评估未发现任何提示基础疾病进展的迹象。几个月后，她的临床特征和实验室参数有了显著改善。：本病例突出了因DGUOK缺乏症导致肝衰竭而接受肝移植的儿童病情发展的不可预测性。
