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DETERMINATION AND HIERARCHY OF CLINICAL SIGNS FOR EARLY DETECTION OF CEREBROTENDINOUS XANTHOMATOSIS

Determinación y jerarquización de signos clínicos para diagnóstico temprano de Xantomatosis cerebrotendinosa

dc.contributoren-US
dc.contributorDepartamento de Nutrición, Diabetes y Metabolismo. Escuela de Medicina. Pontificia Universidad Católica de Chilees-ES
dc.creatorVega V, Javier; Departamento de Nutrición, Diabetes y Metabolismo. Escuela de Medicina. Pontificia Universidad Católica de Chile
dc.creatorSolervicens R, Paulina; Departamento de Nutrición, Diabetes y Metabolismo. Escuela de Medicina. Pontificia Universidad Católica de Chile
dc.creatorMaiz G, Alberto; Departamento de Nutrición, Diabetes y Metabolismo. Escuela de Medicina. Pontificia Universidad Católica de Chile
dc.creatorPreiss C, Yudith; Universidad Diego Portales
dc.creatorMellado T, Patricio; Departamento de Neurología. Escuela de Medicina. Pontificia Universidad Católica de Chile
dc.creatorSantos, José L; Departamento de Nutrición, Diabetes y Metabolismo. Escuela de Medicina. Pontificia Universidad Católica de Chile
dc.date2018-05-28
dc.date.accessioned2019-11-11T18:26:56Z
dc.date.available2019-11-11T18:26:56Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/6248
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/110886
dc.descriptionBackground: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the long-term complications observed in this disease. Aim: To identify and hierarchize initial clinical signs of CTX to establish an early diagnostic suspicion index. Material and Methods: Clinical information was collected from 387 patients diagnosed with CTX, published in MEDLINE between 1968 and 2016. Clinical manifestations were identified, determining their prevalence and age of onset. Sensitivity, specificity and the positive Likelihood ratio (LR+) was calculated for each clinical sign evaluated. Results: The average ages for early symptoms’ onset and CTX diagnosis were 13.3 ± 10.6 years and 34.6 ± 12.6 years respectively. The early clinical signs and their respective LR+ were: juvenile cataracts (143), epilepsy (81), chronic diarrhea (15.6) and psychomotor development delay (3.4). The presence of consanguinity among parents resulted in a LR+ of 31. The combination of two early signs increased the post-test probability to 30%. If the early diagnostic criteria would have been applied in three Chilean patients with diagnosis of CTX, their disease would have been diagnosed from 12 to 25 years earlier. Conclusions: The use of a hierarchical system of predictive clinical signs allows an early screening of CTX, which may avoid the natural progression of the disease using an appropriate treatment.en-US
dc.descriptionBackground: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the long-term complications observed in this disease. Aim: To identify and hierarchize initial clinical signs of CTX to establish an early diagnostic suspicion index. Material and Methods: Clinical information was collected from 387 patients diagnosed with CTX, published in MEDLINE between 1968 and 2016. Clinical manifestations were identified, determining their prevalence and age of onset. Sensitivity, specificity and the positive Likelihood ratio (LR+) was calculated for each clinical sign evaluated. Results: The average ages for early symptoms’ onset and CTX diagnosis were 13.3 ± 10.6 years and 34.6 ± 12.6 years respectively. The early clinical signs and their respective LR+ were: juvenile cataracts (143), epilepsy (81), chronic diarrhea (15.6) and psychomotor development delay (3.4). The presence of consanguinity among parents resulted in a LR+ of 31. The combination of two early signs increased the post-test probability to 30%. If the early diagnostic criteria would have been applied in three Chilean patients with diagnosis of CTX, their disease would have been diagnosed from 12 to 25 years earlier. Conclusions: The use of a hierarchical system of predictive clinical signs allows an early screening of CTX, which may avoid the natural progression of the disease using an appropriate treatment.es-ES
dc.formatapplication/pdf
dc.languagespa
dc.publisherRevista Médica de Chilees-ES
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/6248/4068
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6248/31301
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6248/31302
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dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6248/31305
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6248/31306
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6248/31307
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6248/31308
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6248/31309
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/6248/31804
dc.sourceRevista Médica de Chile; Vol. 146, núm. 6 (2018): JUNIO 2018es-ES
dc.source0034-9887
dc.subjectBile Acids and Salts; Genetics; Xanthomatosis, Cerebrotendinousen-US
dc.subjectBile Acids and Salts; Genetics; Xanthomatosis, Cerebrotendinouses-ES
dc.titleDETERMINATION AND HIERARCHY OF CLINICAL SIGNS FOR EARLY DETECTION OF CEREBROTENDINOUS XANTHOMATOSISen-US
dc.titleDeterminación y jerarquización de signos clínicos para diagnóstico temprano de Xantomatosis cerebrotendinosaes-ES
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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