Cargando…
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency
INTRODUCTION: LPIN1 deficiency is an autosomal recessive form of early childhood recurrent severe rhabdomyolysis. Although not completely lucid yet, LPIN1 has been shown to modulate endosomal-related pro-inflammatory responses via peroxisome proliferator-activated receptor α (PPARα) and PPARγ coacti...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10024045/ https://www.ncbi.nlm.nih.gov/pubmed/36941958 http://dx.doi.org/10.1016/j.ymgmr.2023.100961 |
_version_ | 1784909023157420032 |
---|---|
author | Yeganeh, Mehdi March, Kaitlin Jones, Catherine Ho, Gloria Selby, Kathryn A. Chanoine, Jean-Pierre Stockler, Sylvia Salvarinova, Ramona Horvath, Gabriella Brunel-Guitton, Catherine |
author_facet | Yeganeh, Mehdi March, Kaitlin Jones, Catherine Ho, Gloria Selby, Kathryn A. Chanoine, Jean-Pierre Stockler, Sylvia Salvarinova, Ramona Horvath, Gabriella Brunel-Guitton, Catherine |
author_sort | Yeganeh, Mehdi |
collection | PubMed |
description | INTRODUCTION: LPIN1 deficiency is an autosomal recessive form of early childhood recurrent severe rhabdomyolysis. Although not completely lucid yet, LPIN1 has been shown to modulate endosomal-related pro-inflammatory responses via peroxisome proliferator-activated receptor α (PPARα) and PPARγ coactivator 1α (PGC-1α). Treatment with anti-inflammatory agents such as dexamethasone has been proposed to improve the outcome. CASE: We report a male toddler with recurrent episodes of complicated rhabdomyolysis, requiring prolonged intensive care unit admissions. Whole exome sequencing revealed a common homozygous 1.7 kb intragenic deletion in LPIN1. Despite optimal metabolic cares, the patient presented with an extremely high CK level where he benefited from intravenous dexamethasone (0.6 mg/Kg/day) for a period of 6 days. RESULTS: Dexamethasone administration shortened the course of active rhabdomyolysis, intensive care admission and rehabilitation. It also prevented rhabdomyolysis-related complications such as kidney injury and compartment syndrome. CONCLUSION: Our patient showed a favorable response to parenteral dexamethasone, in addition to hyperhydration with IV fluids, sufficient calorie intake, and restricted dietary fat. The improvement with corticosteroids suggests an uncontrolled inflammatory response as the pathophysiology of LPIN1 deficiency. |
format | Online Article Text |
id | pubmed-10024045 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-100240452023-03-19 Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency Yeganeh, Mehdi March, Kaitlin Jones, Catherine Ho, Gloria Selby, Kathryn A. Chanoine, Jean-Pierre Stockler, Sylvia Salvarinova, Ramona Horvath, Gabriella Brunel-Guitton, Catherine Mol Genet Metab Rep Case Report INTRODUCTION: LPIN1 deficiency is an autosomal recessive form of early childhood recurrent severe rhabdomyolysis. Although not completely lucid yet, LPIN1 has been shown to modulate endosomal-related pro-inflammatory responses via peroxisome proliferator-activated receptor α (PPARα) and PPARγ coactivator 1α (PGC-1α). Treatment with anti-inflammatory agents such as dexamethasone has been proposed to improve the outcome. CASE: We report a male toddler with recurrent episodes of complicated rhabdomyolysis, requiring prolonged intensive care unit admissions. Whole exome sequencing revealed a common homozygous 1.7 kb intragenic deletion in LPIN1. Despite optimal metabolic cares, the patient presented with an extremely high CK level where he benefited from intravenous dexamethasone (0.6 mg/Kg/day) for a period of 6 days. RESULTS: Dexamethasone administration shortened the course of active rhabdomyolysis, intensive care admission and rehabilitation. It also prevented rhabdomyolysis-related complications such as kidney injury and compartment syndrome. CONCLUSION: Our patient showed a favorable response to parenteral dexamethasone, in addition to hyperhydration with IV fluids, sufficient calorie intake, and restricted dietary fat. The improvement with corticosteroids suggests an uncontrolled inflammatory response as the pathophysiology of LPIN1 deficiency. Elsevier 2023-03-10 /pmc/articles/PMC10024045/ /pubmed/36941958 http://dx.doi.org/10.1016/j.ymgmr.2023.100961 Text en Crown Copyright © 2023 Published by Elsevier Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Yeganeh, Mehdi March, Kaitlin Jones, Catherine Ho, Gloria Selby, Kathryn A. Chanoine, Jean-Pierre Stockler, Sylvia Salvarinova, Ramona Horvath, Gabriella Brunel-Guitton, Catherine Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency |
title | Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency |
title_full | Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency |
title_fullStr | Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency |
title_full_unstemmed | Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency |
title_short | Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency |
title_sort | use of dexamethasone in acute rhabdomyolysis in lpin1 deficiency |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10024045/ https://www.ncbi.nlm.nih.gov/pubmed/36941958 http://dx.doi.org/10.1016/j.ymgmr.2023.100961 |
work_keys_str_mv | AT yeganehmehdi useofdexamethasoneinacuterhabdomyolysisinlpin1deficiency AT marchkaitlin useofdexamethasoneinacuterhabdomyolysisinlpin1deficiency AT jonescatherine useofdexamethasoneinacuterhabdomyolysisinlpin1deficiency AT hogloria useofdexamethasoneinacuterhabdomyolysisinlpin1deficiency AT selbykathryna useofdexamethasoneinacuterhabdomyolysisinlpin1deficiency AT chanoinejeanpierre useofdexamethasoneinacuterhabdomyolysisinlpin1deficiency AT stocklersylvia useofdexamethasoneinacuterhabdomyolysisinlpin1deficiency AT salvarinovaramona useofdexamethasoneinacuterhabdomyolysisinlpin1deficiency AT horvathgabriella useofdexamethasoneinacuterhabdomyolysisinlpin1deficiency AT brunelguittoncatherine useofdexamethasoneinacuterhabdomyolysisinlpin1deficiency |