Clinical manifestations of congenital insensitivity to pain with anhidrosis

Introduction: The congenital insensitivity to pain with anhidrosis (HSAN IV) is a rare disease, which results in different with multisystem symptoms, impacting cognitive functions that affect negatively the quality of life not only in patients but also in relatives. It is estimated that most individ...

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Autores:
Santoya Montes, Yanin Elena
Puentes Rozo, Pedro
Tipo de recurso:
Fecha de publicación:
2020
Institución:
Universidad Tecnológica de Bolívar
Repositorio:
Repositorio Institucional UTB
Idioma:
spa
OAI Identifier:
oai:repositorio.utb.edu.co:20.500.12585/12357
Acceso en línea:
https://hdl.handle.net/20.500.12585/12357
http://dx.doi.org/10.14482/sun.36.1.616.56
Palabra clave:
Hereditary Sensory and Autonomic Neuropathies;
Congenital Analgesia;
1-Deoxysphingolipid
LEMB
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc-nd/4.0/
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dc.title.spa.fl_str_mv Clinical manifestations of congenital insensitivity to pain with anhidrosis
dc.title.alternative.spa.fl_str_mv Manifestaciones clínicas de la insensibilidad congénita al dolor con anhidrosis
title Clinical manifestations of congenital insensitivity to pain with anhidrosis
spellingShingle Clinical manifestations of congenital insensitivity to pain with anhidrosis
Hereditary Sensory and Autonomic Neuropathies;
Congenital Analgesia;
1-Deoxysphingolipid
LEMB
title_short Clinical manifestations of congenital insensitivity to pain with anhidrosis
title_full Clinical manifestations of congenital insensitivity to pain with anhidrosis
title_fullStr Clinical manifestations of congenital insensitivity to pain with anhidrosis
title_full_unstemmed Clinical manifestations of congenital insensitivity to pain with anhidrosis
title_sort Clinical manifestations of congenital insensitivity to pain with anhidrosis
dc.creator.fl_str_mv Santoya Montes, Yanin Elena
Puentes Rozo, Pedro
dc.contributor.author.none.fl_str_mv Santoya Montes, Yanin Elena
Puentes Rozo, Pedro
dc.subject.keywords.spa.fl_str_mv Hereditary Sensory and Autonomic Neuropathies;
Congenital Analgesia;
1-Deoxysphingolipid
topic Hereditary Sensory and Autonomic Neuropathies;
Congenital Analgesia;
1-Deoxysphingolipid
LEMB
dc.subject.armarc.none.fl_str_mv LEMB
description Introduction: The congenital insensitivity to pain with anhidrosis (HSAN IV) is a rare disease, which results in different with multisystem symptoms, impacting cognitive functions that affect negatively the quality of life not only in patients but also in relatives. It is estimated that most individuals suffering from this disease die before turning three years of age due to the complications that arise from this condition. Objective: Review the clinical symptomatology of this disease and the neurocognitive alterations that occurred in 145 cases of patients with HSAN IV reported in the scientific literature between 2000 and 2017. Findings: The review allowed to identify the most frequent clinical symptoms in patients with HSAN IV: fever, anhidrosis, osteomyelitis, fractures, arthropathies and avascular necrosis. Conclusions: There is a scientific ignorance of the impact of HSAN IV on the behavior and superior functions in patients affected by this disease. © 2020, Universidad del Norte. All rights reserved.
publishDate 2020
dc.date.issued.none.fl_str_mv 2020
dc.date.accessioned.none.fl_str_mv 2023-07-21T16:27:01Z
dc.date.available.none.fl_str_mv 2023-07-21T16:27:01Z
dc.date.submitted.none.fl_str_mv 2023
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dc.identifier.citation.spa.fl_str_mv SANTOYA MONTES, Y. E., & PUENTES ROZO, P. E. D. R. O. (2020). Clinicai manifestations of congenital Insensitivity to pain with anhidrosis. Revista Salud Uninorte, 36(1), 178-195.
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/20.500.12585/12357
dc.identifier.doi.none.fl_str_mv http://dx.doi.org/10.14482/sun.36.1.616.56
dc.identifier.instname.spa.fl_str_mv Universidad Tecnológica de Bolívar
dc.identifier.reponame.spa.fl_str_mv Repositorio Universidad Tecnológica de Bolívar
identifier_str_mv SANTOYA MONTES, Y. E., & PUENTES ROZO, P. E. D. R. O. (2020). Clinicai manifestations of congenital Insensitivity to pain with anhidrosis. Revista Salud Uninorte, 36(1), 178-195.
Universidad Tecnológica de Bolívar
Repositorio Universidad Tecnológica de Bolívar
url https://hdl.handle.net/20.500.12585/12357
http://dx.doi.org/10.14482/sun.36.1.616.56
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spelling Santoya Montes, Yanin Elena65bbd6a8-3ba7-4796-8786-842981a7859cPuentes Rozo, Pedroe2cdf7fe-56b7-4718-a0f3-d23948fff79e2023-07-21T16:27:01Z2023-07-21T16:27:01Z20202023SANTOYA MONTES, Y. E., & PUENTES ROZO, P. E. D. R. O. (2020). Clinicai manifestations of congenital Insensitivity to pain with anhidrosis. Revista Salud Uninorte, 36(1), 178-195.https://hdl.handle.net/20.500.12585/12357http://dx.doi.org/10.14482/sun.36.1.616.56Universidad Tecnológica de BolívarRepositorio Universidad Tecnológica de BolívarIntroduction: The congenital insensitivity to pain with anhidrosis (HSAN IV) is a rare disease, which results in different with multisystem symptoms, impacting cognitive functions that affect negatively the quality of life not only in patients but also in relatives. It is estimated that most individuals suffering from this disease die before turning three years of age due to the complications that arise from this condition. Objective: Review the clinical symptomatology of this disease and the neurocognitive alterations that occurred in 145 cases of patients with HSAN IV reported in the scientific literature between 2000 and 2017. Findings: The review allowed to identify the most frequent clinical symptoms in patients with HSAN IV: fever, anhidrosis, osteomyelitis, fractures, arthropathies and avascular necrosis. Conclusions: There is a scientific ignorance of the impact of HSAN IV on the behavior and superior functions in patients affected by this disease. © 2020, Universidad del Norte. All rights reserved.18 páginasapplication/pdfspahttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessAttribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://purl.org/coar/access_right/c_abf2Revista Salud UninorteClinical manifestations of congenital insensitivity to pain with anhidrosisManifestaciones clínicas de la insensibilidad congénita al dolor con anhidrosisinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/drafthttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/version/c_b1a7d7d4d402bccehttp://purl.org/coar/resource_type/c_2df8fbb1Hereditary Sensory and Autonomic Neuropathies;Congenital Analgesia;1-DeoxysphingolipidLEMBCartagena de IndiasDyck, P.J., Mellinger, J.F., Reagan, T.J., Horowitz, S.J., Mcdonald, J.W., Litchy, W.J., Daube, J.R., (...), Lambert, E.H. Not 'indifference to pain' but varieties of hereditary sensory and autonomic neuropathy (1983) Brain, 106 (2), pp. 373-390. Cited 154 times. doi: 10.1093/brain/106.2.373LePlat, M. Dictionnaire de Médecine en 30 volumes 1846. Cited 2 times. ParisDearborn, F. (2005) Enfermedades de la piel incluyendo los exhantemas India: B. Jain PublishersLa vanguardia. Un enigma fisiologico “El Acerico humano, p. 6.Indo, Y. Congenital Insensitivity to Pain with Anhidrosis (2014) GeneReviews. Cited 41 times. Disponible de http://www.ncbi.nlm.nih.gov/books/NBK1769/Lee, S.-T., Lee, J., Lee, M., Kim, J.-W., Ki, C.-S. Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis (2009) Muscle and Nerve, 40 (5), pp. 855-859. Cited 23 times. http://www3.interscience.wiley.com/cgi-bin/fulltext/122515463/PDFSTART doi: 10.1002/mus.21340Kucukdurmaz, F., Imren, Y., Uruc, V., Sen, C. Dcongenital insensitivity to pain with anhidrosis (CIPA) manifested with chronic osteomyelitis; a case report (Open Access) (2015) Journal of Clinical and Analytical Medicine, 6 (2), pp. 230-232. 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