Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report
Por:
Molera C, Sarishvili T, Nascimento-Osorio A, Rtskhiladze I, Muñoz Bartolo G, Fernández Cebrián S, Valverde Fernández J, Muñoz Cabello B, Graham RJ, Miller W, Sepulveda B, Kamath BM, Meng H and Lawlor MW
Publicada:
1 ene 2022
Resumen:
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.
Filiaciones:
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-Osorio 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 ofPediatric 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 SickChildren and University of Toronto, Toronto, Canada
Meng H:
Department of Pathology and Laboratory Medicineand Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, WI, USA
Lawlor MW:
Department of Pathology and Laboratory Medicineand Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, WI, USA
Green Submitted
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