| Autor: |
Molera C; Pediatric Gastroenterology, Hepatology and Nutrition Department, Hospital Sant Joan de Déu, Universidad de Barcelona, España., Sarishvili T; Pediatric Department, Medical Center Mrcheveli, Tbilisi, Georgia., Nascimento A; Unidadde Patología Neuromuscular, Servicio de Neurología Pediátrica, Hospital Sant Joan de Déu, Universidad de Barcelona, CIBERER, España., Rtskhiladze I; Pediatric Department, Medical Center Mrcheveli, Tbilisi, Georgia., Muñoz Bartolo G; Department of Pediatric Hepatology, Hospital Universitario La Paz, Madrid, España., Fernández Cebrián S; Sección de Gastroenterología, Hepatología y Nutrición Pediátrica. Departamento de Pediatría. Complexo Hospitalario Universitario de Ourense, España., Valverde Fernández J; Sección de Gastroenterología, Hepatología y Nutrición Pediátrica UGC Pediatría. Hospital Infantil Virgen del Rocio, Sevilla, España., Muñoz Cabello B; Sección de Neuropediatría, Hospital Infantil Virgen del Rocío, Sevilla, España., Graham RJ; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Miller W; Astellas Gene Therapies, San Francisco, CA, USA., Sepulveda B; Astellas Gene Therapies, San Francisco, CA, USA., Kamath BM; The Hospital for Sick Children and University of Toronto, Toronto, Canada., Meng H; Department of Pathology and Laboratory Medicine and Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, WI, USA., Lawlor MW; Department of Pathology and Laboratory Medicine and Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, WI, USA. |
| Abstrakt: |
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. |
