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Anesthesia for patients with PTRF mutations: a case report

BACKGROUND: Polymeraze I and transcript release factor (PTRF) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy. CASE PRESENTATION: A 29-year-old man (height 126 cm; weight 22 kg) with a PTRF mutation was scheduled for mandibular dent...

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Autores principales: Hirano, Atsuko, Takada, Tomohiko, Senda, Mariko, Takahashi, Hidemasa, Suzuki, Takeo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5804690/
https://www.ncbi.nlm.nih.gov/pubmed/29457121
http://dx.doi.org/10.1186/s40981-017-0139-9
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author Hirano, Atsuko
Takada, Tomohiko
Senda, Mariko
Takahashi, Hidemasa
Suzuki, Takeo
author_facet Hirano, Atsuko
Takada, Tomohiko
Senda, Mariko
Takahashi, Hidemasa
Suzuki, Takeo
author_sort Hirano, Atsuko
collection PubMed
description BACKGROUND: Polymeraze I and transcript release factor (PTRF) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy. CASE PRESENTATION: A 29-year-old man (height 126 cm; weight 22 kg) with a PTRF mutation was scheduled for mandibular dentigerous cystectomy. His primary symptoms were lipodystrophy, myopathy, long QT syndrome, refractory nephrosis, and abnormal lipid metabolism. Defibrillator pads were applied soon after the patient entered the operating room. Anesthesia was induced using continuous administration of dexmedetomidine (4 μg/kg/h) for 15 min; midazolam (7 mg) was added while monitoring the bispectral index and his vital signs. Remifentanil and rocuronium were administered before endotracheal intubation. The surgeon used local anesthesia, and dexmedetomidine and remifentanil were titrated throughout the surgery. The surgery was performed uneventfully, and the patient was extubated following the administration of sugammadex and flumazenil. CONCLUSION: Patients with PTRF mutations require careful anesthetic planning. We planned to administer lipid-free, non-inhalational agents for the induction and maintenance of anesthesia. The anesthetic method used for this minor surgery was safe and effective.
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spelling pubmed-58046902018-02-14 Anesthesia for patients with PTRF mutations: a case report Hirano, Atsuko Takada, Tomohiko Senda, Mariko Takahashi, Hidemasa Suzuki, Takeo JA Clin Rep Case Report BACKGROUND: Polymeraze I and transcript release factor (PTRF) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy. CASE PRESENTATION: A 29-year-old man (height 126 cm; weight 22 kg) with a PTRF mutation was scheduled for mandibular dentigerous cystectomy. His primary symptoms were lipodystrophy, myopathy, long QT syndrome, refractory nephrosis, and abnormal lipid metabolism. Defibrillator pads were applied soon after the patient entered the operating room. Anesthesia was induced using continuous administration of dexmedetomidine (4 μg/kg/h) for 15 min; midazolam (7 mg) was added while monitoring the bispectral index and his vital signs. Remifentanil and rocuronium were administered before endotracheal intubation. The surgeon used local anesthesia, and dexmedetomidine and remifentanil were titrated throughout the surgery. The surgery was performed uneventfully, and the patient was extubated following the administration of sugammadex and flumazenil. CONCLUSION: Patients with PTRF mutations require careful anesthetic planning. We planned to administer lipid-free, non-inhalational agents for the induction and maintenance of anesthesia. The anesthetic method used for this minor surgery was safe and effective. Springer Berlin Heidelberg 2018-01-25 /pmc/articles/PMC5804690/ /pubmed/29457121 http://dx.doi.org/10.1186/s40981-017-0139-9 Text en © The Author(s) 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Case Report
Hirano, Atsuko
Takada, Tomohiko
Senda, Mariko
Takahashi, Hidemasa
Suzuki, Takeo
Anesthesia for patients with PTRF mutations: a case report
title Anesthesia for patients with PTRF mutations: a case report
title_full Anesthesia for patients with PTRF mutations: a case report
title_fullStr Anesthesia for patients with PTRF mutations: a case report
title_full_unstemmed Anesthesia for patients with PTRF mutations: a case report
title_short Anesthesia for patients with PTRF mutations: a case report
title_sort anesthesia for patients with ptrf mutations: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5804690/
https://www.ncbi.nlm.nih.gov/pubmed/29457121
http://dx.doi.org/10.1186/s40981-017-0139-9
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