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Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure

Myotonic dystrophy (MyoD) is an inherited genetic disorder caused by the expansion of a CTG trinucleotide repeat in the dystrophia myotonica protein kinase gene. It manifests as a multisystem disease affecting not only skeletal muscles, but also heart, lung, eye, gastrointestinal tract, central nerv...

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Autores principales: Chiou, Fang Kuan, Rizvi, Hina, Quinlivan, Ros, Gupte, Girish L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191590/
https://www.ncbi.nlm.nih.gov/pubmed/37206451
http://dx.doi.org/10.1097/PG9.0000000000000121
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author Chiou, Fang Kuan
Rizvi, Hina
Quinlivan, Ros
Gupte, Girish L.
author_facet Chiou, Fang Kuan
Rizvi, Hina
Quinlivan, Ros
Gupte, Girish L.
author_sort Chiou, Fang Kuan
collection PubMed
description Myotonic dystrophy (MyoD) is an inherited genetic disorder caused by the expansion of a CTG trinucleotide repeat in the dystrophia myotonica protein kinase gene. It manifests as a multisystem disease affecting not only skeletal muscles, but also heart, lung, eye, gastrointestinal tract, central nervous system, and endocrine system. However, MyoD is rarely associated with a progressive liver disorder. We report a case of congenital MyoD with combined heterozygous ATP8B1/ABCB4 mutation who developed chronic, progressive low gamma-glutamyltransferase cholestatic liver disease at early infancy, and eventually underwent successful liver transplantation.
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spelling pubmed-101915902023-05-18 Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure Chiou, Fang Kuan Rizvi, Hina Quinlivan, Ros Gupte, Girish L. JPGN Rep Case Report Myotonic dystrophy (MyoD) is an inherited genetic disorder caused by the expansion of a CTG trinucleotide repeat in the dystrophia myotonica protein kinase gene. It manifests as a multisystem disease affecting not only skeletal muscles, but also heart, lung, eye, gastrointestinal tract, central nervous system, and endocrine system. However, MyoD is rarely associated with a progressive liver disorder. We report a case of congenital MyoD with combined heterozygous ATP8B1/ABCB4 mutation who developed chronic, progressive low gamma-glutamyltransferase cholestatic liver disease at early infancy, and eventually underwent successful liver transplantation. Lippincott Williams & Wilkins, Inc. 2021-10-25 /pmc/articles/PMC10191590/ /pubmed/37206451 http://dx.doi.org/10.1097/PG9.0000000000000121 Text en Copyright © 2021 The Author(s). Published by Wolters Kluwer on behalf of European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Chiou, Fang Kuan
Rizvi, Hina
Quinlivan, Ros
Gupte, Girish L.
Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure
title Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure
title_full Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure
title_fullStr Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure
title_full_unstemmed Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure
title_short Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure
title_sort congenital myotonic dystrophy with combined heterozygous atp8b1/abcb4 mutation leading to progressive cholestasis and liver failure
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191590/
https://www.ncbi.nlm.nih.gov/pubmed/37206451
http://dx.doi.org/10.1097/PG9.0000000000000121
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