Quelhas da Costa Rita, Laranjeira Francisco, Duarte Ribeiro Isaura, Santos António Filipe, Nery Filipe
Serviço de Medicina, Centro Hospitalar Universitário do Porto, Porto, Portugal.
Unidade de Bioquímica Genética, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.
GE Port J Gastroenterol. 2021 Jul 7;29(4):284-290. doi: 10.1159/000517103. eCollection 2022 Jul.
Metabolic associated fatty liver disease became the most common form of chronic liver disease, in the vast majority of the cases related to increased insulin resistance or metabolic dysregulation. Yet, other causes may be implied. We report the late diagnosis of Dorfman-Chanarin syndrome in a non-alcoholic steatohepatitis previously labeled cirrhotic middle-aged man, with consanguineous parents, complicated with hepatocellular carcinoma. Congenital ichthyosis, neurosensory hearing loss and elevated muscular enzymes hit on the track of Dorfman-Chanarin syndrome. The genetic analysis uncovered a first-time described homozygotic nonsense mutation in the gene, responsible for coding the ABHD5 protein. The patient was successfully submitted to liver transplantation. Inborn errors of metabolism are a rare cause of metabolic associated fatty liver disease, but they need to be kept in consideration in all patients who present with atypical clinical features. This shall raise the awareness of physicians to rare forms of presentation since it may imply not only a different prognosis, but also other actions, like particular therapies as liver transplantation due to related complications of cirrhosis, or familial screening.
代谢相关脂肪性肝病已成为最常见的慢性肝病形式，在绝大多数情况下与胰岛素抵抗增加或代谢失调有关。然而，可能还存在其他原因。我们报告了一例在先前诊断为肝硬化的非酒精性脂肪性肝炎中年男性中迟发性诊断的 Dorfman-Chanarin 综合征，该患者父母为近亲结婚，并发肝细胞癌。先天性鱼鳞病、神经感觉性听力丧失和肌肉酶升高提示了 Dorfman-Chanarin 综合征。基因分析发现了一个首次描述的该基因纯合无义突变，该基因负责编码 ABHD5 蛋白。该患者成功接受了肝移植。先天性代谢缺陷是代谢相关脂肪性肝病的罕见病因，但对于所有具有非典型临床特征的患者都需要考虑到这一点。这应提高医生对罕见表现形式的认识，因为这不仅可能意味着不同的预后，还可能意味着其他行动，如由于肝硬化相关并发症而进行的特殊治疗（如肝移植）或家族筛查。
