Pediatric Gastroenterology, Hepatology and Nutrition Department, Hospital Sant Joan de Déu, Universidad de Barcelona, España.
Pediatric Department, Medical Center Mrcheveli, Tbilisi, Georgia.
J Neuromuscul Dis. 2022;9(1):73-82. doi: 10.3233/JND-210712.
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction. However, pathology is not limited to muscle and can be associated with life-threatening hepatic peliosis. Hepatobiliary disease has been reported in up to 17% of XLMTM patients but has not been extensively characterized. We report on five XLMTM patients who experienced intrahepatic cholestasis in their disease natural history, illustrating the need to further investigate these manifestations. These patients shared presentations that included pruritus, hypertransaminemia, and hyperbilirubinemia with normal gamma-glutamyl transferase, following infection or vaccination. Three patients who had genetic testing showed no evidence of genetic mutations associated with familial cholestasis. In one patient, progression to cirrhotic, decompensated liver disease occurred. Further investigations into the molecular pathomechanism underpinning these clinical observations in XLMTM patients will be important for informing patient care.
X 连锁肌小管肌病（XLMTM）是一种罕见的、危及生命的先天性肌病，其特征为严重的骨骼肌无力、呼吸窘迫和运动功能障碍。然而，病变不仅局限于肌肉，还可能与危及生命的肝血窦扩张症相关。肝疾病在高达 17%的 XLMTM 患者中已有报道，但尚未得到广泛描述。我们报告了五例在疾病自然史中经历肝内胆汁淤积的 XLMTM 患者，这说明了需要进一步研究这些表现。这些患者的表现包括感染或接种疫苗后出现瘙痒、高转氨酶血症和高胆红素血症，同时γ-谷氨酰转移酶正常。三名接受基因检测的患者没有发现与家族性胆汁淤积相关的基因突变证据。一名患者进展为肝硬化、肝功能失代偿。进一步研究 XLMTM 患者这些临床观察背后的分子发病机制对于指导患者治疗非常重要。
