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

Background: 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 longterm complications observed in this disease. Aim: To identify and hiera...

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Autores principales:	Vega V.,Javier, Solervicens R.,Paulina, Maiz G.,Alberto, Preiss C.,Yudith, Mellado T.,Patricio, Santos M.,José L.
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2018
Materias:	Bile Acids and Salts Genetics Xanthomatosis, Cerebrotendinous
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000600745
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spelling	oai:scielo:S0034-988720180006007452018-08-24Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosaVega V.,JavierSolervicens R.,PaulinaMaiz G.,AlbertoPreiss C.,YudithMellado T.,PatricioSantos M.,José L. Bile Acids and Salts Genetics Xanthomatosis, Cerebrotendinous Background: 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 longterm 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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.146 n.6 20182018-06-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000600745es10.4067/s0034-98872018000600745
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Bile Acids and Salts Genetics Xanthomatosis, Cerebrotendinous
spellingShingle	Bile Acids and Salts Genetics Xanthomatosis, Cerebrotendinous Vega V.,Javier Solervicens R.,Paulina Maiz G.,Alberto Preiss C.,Yudith Mellado T.,Patricio Santos M.,José L. Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa
description	Background: 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 longterm 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.
author	Vega V.,Javier Solervicens R.,Paulina Maiz G.,Alberto Preiss C.,Yudith Mellado T.,Patricio Santos M.,José L.
author_facet	Vega V.,Javier Solervicens R.,Paulina Maiz G.,Alberto Preiss C.,Yudith Mellado T.,Patricio Santos M.,José L.
author_sort	Vega V.,Javier
title	Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa
title_short	Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa
title_full	Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa
title_fullStr	Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa
title_full_unstemmed	Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa
title_sort	determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa
publisher	Sociedad Médica de Santiago
publishDate	2018
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000600745
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Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa

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