Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis

Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by episodes of weakness. Although TPP has been described in patients all over the world, it is especially frequent in Asiatic patients. Recently, two genomewide association studies have found a susceptibility...

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Autores: Diaz-Manera, J, Querol, L, Alejaldre, A, Rojas-Garcia, R, Ramos-Fransi, A, Gallardo, E, Illa, I
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2014
País:España
Institución:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repositorio:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:oai:iibsantpau.fundanetsuite.com:p9158
Acceso en línea:https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9158
Access Level:acceso abierto
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spelling Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosisDiaz-Manera, JQuerol, LAlejaldre, ARojas-Garcia, RRamos-Fransi, AGallardo, EIlla, IThyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by episodes of weakness. Although TPP has been described in patients all over the world, it is especially frequent in Asiatic patients. Recently, two genomewide association studies have found a susceptibility locus on chromosome 17q24.3 near the KCNJ2 gene, which is responsible for another cause of periodic paralysis, the Andersen-Tawil syndrome (ATS). We report the first patient diagnosed with ATS with a de novo c. G899C mutation in the KCNJ2 gene in 2010 who developed an autoimmune hyperthyroidism and TPP in 2013. At the time of the ATS diagnosis other causes of periodic paralysis, including thyroid dysfunction, were ruled out. The condition of the patient, who had mild episodes of proximal weakness at follow-up, deteriorated dramatically in 2013, presenting continuous episodes of severe generalized weakness associated with low levels of potassium requiring frequent admissions to the hospital. After a few months, he also presented signs of hyperthyroidism, and a diagnosis of Grave's disease was made. In our opinion, this case clearly demonstrates that a dysfunction of the Kir2.1 potassium channel encoded by the KCNJ2 gene is a risk factor to develop TPP, and can be a useful tool to identify patients at risk in daily clinics.SPRINGERNATURE2014info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9158JOURNAL OF HUMAN GENETICSISSN: 14345161ISSNe: 1435232Xreponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauinstname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)Inglésinfo:eu-repo/semantics/openAccessoai:iibsantpau.fundanetsuite.com:p91582026-06-14T12:41:47Z
dc.title.none.fl_str_mv Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis
title Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis
spellingShingle Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis
Diaz-Manera, J
title_short Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis
title_full Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis
title_fullStr Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis
title_full_unstemmed Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis
title_sort Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis
dc.creator.none.fl_str_mv Diaz-Manera, J
Querol, L
Alejaldre, A
Rojas-Garcia, R
Ramos-Fransi, A
Gallardo, E
Illa, I
author Diaz-Manera, J
author_facet Diaz-Manera, J
Querol, L
Alejaldre, A
Rojas-Garcia, R
Ramos-Fransi, A
Gallardo, E
Illa, I
author_role author
author2 Querol, L
Alejaldre, A
Rojas-Garcia, R
Ramos-Fransi, A
Gallardo, E
Illa, I
author2_role author
author
author
author
author
author
description Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by episodes of weakness. Although TPP has been described in patients all over the world, it is especially frequent in Asiatic patients. Recently, two genomewide association studies have found a susceptibility locus on chromosome 17q24.3 near the KCNJ2 gene, which is responsible for another cause of periodic paralysis, the Andersen-Tawil syndrome (ATS). We report the first patient diagnosed with ATS with a de novo c. G899C mutation in the KCNJ2 gene in 2010 who developed an autoimmune hyperthyroidism and TPP in 2013. At the time of the ATS diagnosis other causes of periodic paralysis, including thyroid dysfunction, were ruled out. The condition of the patient, who had mild episodes of proximal weakness at follow-up, deteriorated dramatically in 2013, presenting continuous episodes of severe generalized weakness associated with low levels of potassium requiring frequent admissions to the hospital. After a few months, he also presented signs of hyperthyroidism, and a diagnosis of Grave's disease was made. In our opinion, this case clearly demonstrates that a dysfunction of the Kir2.1 potassium channel encoded by the KCNJ2 gene is a risk factor to develop TPP, and can be a useful tool to identify patients at risk in daily clinics.
publishDate 2014
dc.date.none.fl_str_mv 2014
dc.type.none.fl_str_mv info:eu-repo/semantics/article
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format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9158
url https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9158
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv SPRINGERNATURE
publisher.none.fl_str_mv SPRINGERNATURE
dc.source.none.fl_str_mv JOURNAL OF HUMAN GENETICS
ISSN: 14345161
ISSNe: 1435232X
reponame:r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname:Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
instname_str Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
reponame_str r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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