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Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel
A 68-year-old female with a history of sporadic type and presumably secondary erythromelalgia with chronic intractable pain presented for foot surgery. The procedure was performed with combined general anesthesia and regional anesthesia consisting of the placement of a popliteal pain catheter for po...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609274/ https://www.ncbi.nlm.nih.gov/pubmed/31309012 http://dx.doi.org/10.7759/cureus.4587 |
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author | Janicki, Piotr K Ruiz-Velasco, Victor Adhikary, Sanjib |
author_facet | Janicki, Piotr K Ruiz-Velasco, Victor Adhikary, Sanjib |
author_sort | Janicki, Piotr K |
collection | PubMed |
description | A 68-year-old female with a history of sporadic type and presumably secondary erythromelalgia with chronic intractable pain presented for foot surgery. The procedure was performed with combined general anesthesia and regional anesthesia consisting of the placement of a popliteal pain catheter for postoperative pain management. Subsequent whole-genome sequencing revealed that the patient was a homozygous carrier of the common missense mutation in the SCN9A gene coding for voltage-gated sodium channel (NaV1.7) - dbSNP rs6746030 (R1150W). The occurrence of this single nucleotide polymorphism (SNP) was previously suggested not to be associated with erythromelalgia but rather thought to be part of quantitative changes in the pain threshold in different cohorts of patients. The placement of the pain catheter, although controversial in patients with erythromelalgia, provided effective postoperative pain relief without any side effects. |
format | Online Article Text |
id | pubmed-6609274 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-66092742019-07-15 Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel Janicki, Piotr K Ruiz-Velasco, Victor Adhikary, Sanjib Cureus Anesthesiology A 68-year-old female with a history of sporadic type and presumably secondary erythromelalgia with chronic intractable pain presented for foot surgery. The procedure was performed with combined general anesthesia and regional anesthesia consisting of the placement of a popliteal pain catheter for postoperative pain management. Subsequent whole-genome sequencing revealed that the patient was a homozygous carrier of the common missense mutation in the SCN9A gene coding for voltage-gated sodium channel (NaV1.7) - dbSNP rs6746030 (R1150W). The occurrence of this single nucleotide polymorphism (SNP) was previously suggested not to be associated with erythromelalgia but rather thought to be part of quantitative changes in the pain threshold in different cohorts of patients. The placement of the pain catheter, although controversial in patients with erythromelalgia, provided effective postoperative pain relief without any side effects. Cureus 2019-05-02 /pmc/articles/PMC6609274/ /pubmed/31309012 http://dx.doi.org/10.7759/cureus.4587 Text en Copyright © 2019, Janicki et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Anesthesiology Janicki, Piotr K Ruiz-Velasco, Victor Adhikary, Sanjib Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel |
title | Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel |
title_full | Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel |
title_fullStr | Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel |
title_full_unstemmed | Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel |
title_short | Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel |
title_sort | sporadic erythromelalgia associated with a homozygous carrier of common missense polymorphism in scn9a gene coding for nav1.7 voltage-gated sodium channel |
topic | Anesthesiology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609274/ https://www.ncbi.nlm.nih.gov/pubmed/31309012 http://dx.doi.org/10.7759/cureus.4587 |
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