RT Journal Article
T1 Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.
A1 Molera, Cristina
A1 Sarishvili, Tinatin
A1 Nascimento, Andrés
A1 Rtskhiladze, Irakli
A1 Muñoz Bartolo, Gema
A1 Fernández Cebrián, Santiago
A1 Valverde Fernández, Justo
A1 Muñoz Cabello, Beatriz
A1 Graham, Robert J
A1 Miller, Weston
A1 Sepulveda, Bryan
A1 Kamath, Binita M
A1 Meng, Hui
A1 Lawlor, Michael W
K1 X-linked myotubular myopathy
K1 hepatobiliary disease
K1 intrahepatic cholestasis
K1 liver abnormalities
K1 myotubularin
AB 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.
YR 2022
FD 2022
LK http://hdl.handle.net/10668/20513
UL http://hdl.handle.net/10668/20513
LA en
DS RISalud
RD Apr 18, 2025