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Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report
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. Hepatobiliar...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842755/ https://www.ncbi.nlm.nih.gov/pubmed/34366366 http://dx.doi.org/10.3233/JND-210712 |
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author | Molera, Cristina Sarishvili, Tinatin Nascimento, Andrés Rtskhiladze, Irakli Muñoz Bartolo, Gema Fernández Cebrián, Santiago Valverde Fernández, Justo Muñoz Cabello, Beatriz Graham, Robert J. Miller, Weston Sepulveda, Bryan Kamath, Binita M. Meng, Hui Lawlor, Michael W. |
author_facet | Molera, Cristina Sarishvili, Tinatin Nascimento, Andrés Rtskhiladze, Irakli Muñoz Bartolo, Gema Fernández Cebrián, Santiago Valverde Fernández, Justo Muñoz Cabello, Beatriz Graham, Robert J. Miller, Weston Sepulveda, Bryan Kamath, Binita M. Meng, Hui Lawlor, Michael W. |
author_sort | Molera, Cristina |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8842755 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | IOS Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-88427552022-03-02 Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report Molera, Cristina Sarishvili, Tinatin Nascimento, Andrés Rtskhiladze, Irakli Muñoz Bartolo, Gema Fernández Cebrián, Santiago Valverde Fernández, Justo Muñoz Cabello, Beatriz Graham, Robert J. Miller, Weston Sepulveda, Bryan Kamath, Binita M. Meng, Hui Lawlor, Michael W. J Neuromuscul Dis Research Report 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. IOS Press 2022-01-04 /pmc/articles/PMC8842755/ /pubmed/34366366 http://dx.doi.org/10.3233/JND-210712 Text en © 2022 – The authors. Published by IOS Press https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Report Molera, Cristina Sarishvili, Tinatin Nascimento, Andrés Rtskhiladze, Irakli Muñoz Bartolo, Gema Fernández Cebrián, Santiago Valverde Fernández, Justo Muñoz Cabello, Beatriz Graham, Robert J. Miller, Weston Sepulveda, Bryan Kamath, Binita M. Meng, Hui Lawlor, Michael W. Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report |
title | Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report |
title_full | Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report |
title_fullStr | Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report |
title_full_unstemmed | Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report |
title_short | Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report |
title_sort | intrahepatic cholestasis is a clinically significant feature associated with natural history of x-linked myotubular myopathy (xlmtm): a case series and biopsy report |
topic | Research Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842755/ https://www.ncbi.nlm.nih.gov/pubmed/34366366 http://dx.doi.org/10.3233/JND-210712 |
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