Xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticos

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by genetic deficiency of the 27-hydroxylase enzyme (encoded by CYP27A1). It plays a key role in cholesterol metabolism, especially in bile acid synthesis and in the 25-hydroxylation of vitamin D3 in the liver. Its def...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Preiss,Yudith, Santos,José L, Smalley,Susan V, Maiz,Alberto
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2014
Materias:	Cholestanol Chenodeoxycholic acid Cholesterol CYP27A1 Xanthomatosis, cerebrotendinous
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000500010
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:scielo:S0034-98872014000500010
record_format	dspace
spelling	oai:scielo:S0034-988720140005000102014-10-10Xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticosPreiss,YudithSantos,José LSmalley,Susan VMaiz,Alberto Cholestanol Chenodeoxycholic acid Cholesterol CYP27A1 Xanthomatosis, cerebrotendinous Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by genetic deficiency of the 27-hydroxylase enzyme (encoded by CYP27A1). It plays a key role in cholesterol metabolism, especially in bile acid synthesis and in the 25-hydroxylation of vitamin D3 in the liver. Its deficiency causes reduced bile acid synthesis and tissue accumulation of cholestanol. Clinical manifestations are related to the presence of cholestanol deposits and include tendon xanthomas, premature cataracts, chronic diarrhea, progressive neurologic impairment and less frequently coronary heart disease, early onset osteoporosis and abnormalities in the optic disk and retina. An early diagnosis and treatment with quenodeoxycholic acid may prevent further complications, mainly neurological manifestations. This review summarizes cholesterol metabolism related to bile acid synthesis, physiopathology, biochemistry and treatment of cerebrotendinous xanthomatosis.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.142 n.5 20142014-05-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000500010es10.4067/S0034-98872014000500010
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cholestanol Chenodeoxycholic acid Cholesterol CYP27A1 Xanthomatosis, cerebrotendinous
spellingShingle	Cholestanol Chenodeoxycholic acid Cholesterol CYP27A1 Xanthomatosis, cerebrotendinous Preiss,Yudith Santos,José L Smalley,Susan V Maiz,Alberto Xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticos
description	Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by genetic deficiency of the 27-hydroxylase enzyme (encoded by CYP27A1). It plays a key role in cholesterol metabolism, especially in bile acid synthesis and in the 25-hydroxylation of vitamin D3 in the liver. Its deficiency causes reduced bile acid synthesis and tissue accumulation of cholestanol. Clinical manifestations are related to the presence of cholestanol deposits and include tendon xanthomas, premature cataracts, chronic diarrhea, progressive neurologic impairment and less frequently coronary heart disease, early onset osteoporosis and abnormalities in the optic disk and retina. An early diagnosis and treatment with quenodeoxycholic acid may prevent further complications, mainly neurological manifestations. This review summarizes cholesterol metabolism related to bile acid synthesis, physiopathology, biochemistry and treatment of cerebrotendinous xanthomatosis.
author	Preiss,Yudith Santos,José L Smalley,Susan V Maiz,Alberto
author_facet	Preiss,Yudith Santos,José L Smalley,Susan V Maiz,Alberto
author_sort	Preiss,Yudith
title	Xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticos
title_short	Xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticos
title_full	Xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticos
title_fullStr	Xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticos
title_full_unstemmed	Xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticos
title_sort	xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticos
publisher	Sociedad Médica de Santiago
publishDate	2014
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000500010
work_keys_str_mv	AT preissyudith xantomatosiscerebrotendinosaaspectosfisiopatologicosclinicosygeneticos AT santosjosel xantomatosiscerebrotendinosaaspectosfisiopatologicosclinicosygeneticos AT smalleysusanv xantomatosiscerebrotendinosaaspectosfisiopatologicosclinicosygeneticos AT maizalberto xantomatosiscerebrotendinosaaspectosfisiopatologicosclinicosygeneticos
_version_	1718436755396362240

Xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticos

Ejemplares similares