Evolución prolongada en síndrome de Crigler-Najjar tipo I

Crigler-Najjar Syndrome is an uncommon genetic disorder characterized by the elevation of unconjugated plasmatic bilirubin secondary to deficiency of the enzyme uridine diphosphate glucuronyltransferase (UDP-GT). We report a 19-years-old woman with the syndrome diagnosed during the neonatal period,...

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Autores principales:	Besa,Santiago, Calvo,Carlos I, Harris,Paul R
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2014
Materias:	Crigler-Najjar Syndrome Jaundice Phototherapy
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000100017
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spelling	oai:scielo:S0034-988720140001000172014-08-18Evolución prolongada en síndrome de Crigler-Najjar tipo IBesa,SantiagoCalvo,Carlos IHarris,Paul R Crigler-Najjar Syndrome Jaundice Phototherapy Crigler-Najjar Syndrome is an uncommon genetic disorder characterized by the elevation of unconjugated plasmatic bilirubin secondary to deficiency of the enzyme uridine diphosphate glucuronyltransferase (UDP-GT). We report a 19-years-old woman with the syndrome diagnosed during the neonatal period, when she developed a severe jaundice in the first 10 days of life, reaching unconjugated bilirubin levels of 29 mg/dl, with normal liver function tests. After transient response to phototherapy, the patient was referred to a tertiary medical center in which an extensive work up ruled out other etiologies and the diagnosis of type I Crigler-Najjar syndrome was established. Currently, the patient has a mild mental retardation. She is receiving homemade phototherapy 18 h per day with acceptable control of bilirubin levels. Many mutations have been associated with UDP-GT dysfunction resulting in a broad spectrum of the disease. When bilirubin rises above physiological limits, it permeates the hematoencephalic barrier, inducing bilirubin impregnation of basal ganglia with secondary neuronal damage and necrosis. The worst outcome, kernicterus, is characterized by mental retardation, central deafness, ophthalmoplegia, ataxia, athetosis, spasticity, seizures and death. First line therapy includes phototherapy, but definitive therapy is liver transplantation before the occurrence of neurological damage.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.142 n.1 20142014-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000100017es10.4067/S0034-98872014000100017
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Crigler-Najjar Syndrome Jaundice Phototherapy
spellingShingle	Crigler-Najjar Syndrome Jaundice Phototherapy Besa,Santiago Calvo,Carlos I Harris,Paul R Evolución prolongada en síndrome de Crigler-Najjar tipo I
description	Crigler-Najjar Syndrome is an uncommon genetic disorder characterized by the elevation of unconjugated plasmatic bilirubin secondary to deficiency of the enzyme uridine diphosphate glucuronyltransferase (UDP-GT). We report a 19-years-old woman with the syndrome diagnosed during the neonatal period, when she developed a severe jaundice in the first 10 days of life, reaching unconjugated bilirubin levels of 29 mg/dl, with normal liver function tests. After transient response to phototherapy, the patient was referred to a tertiary medical center in which an extensive work up ruled out other etiologies and the diagnosis of type I Crigler-Najjar syndrome was established. Currently, the patient has a mild mental retardation. She is receiving homemade phototherapy 18 h per day with acceptable control of bilirubin levels. Many mutations have been associated with UDP-GT dysfunction resulting in a broad spectrum of the disease. When bilirubin rises above physiological limits, it permeates the hematoencephalic barrier, inducing bilirubin impregnation of basal ganglia with secondary neuronal damage and necrosis. The worst outcome, kernicterus, is characterized by mental retardation, central deafness, ophthalmoplegia, ataxia, athetosis, spasticity, seizures and death. First line therapy includes phototherapy, but definitive therapy is liver transplantation before the occurrence of neurological damage.
author	Besa,Santiago Calvo,Carlos I Harris,Paul R
author_facet	Besa,Santiago Calvo,Carlos I Harris,Paul R
author_sort	Besa,Santiago
title	Evolución prolongada en síndrome de Crigler-Najjar tipo I
title_short	Evolución prolongada en síndrome de Crigler-Najjar tipo I
title_full	Evolución prolongada en síndrome de Crigler-Najjar tipo I
title_fullStr	Evolución prolongada en síndrome de Crigler-Najjar tipo I
title_full_unstemmed	Evolución prolongada en síndrome de Crigler-Najjar tipo I
title_sort	evolución prolongada en síndrome de crigler-najjar tipo i
publisher	Sociedad Médica de Santiago
publishDate	2014
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000100017
work_keys_str_mv	AT besasantiago evolucionprolongadaensindromedecriglernajjartipoi AT calvocarlosi evolucionprolongadaensindromedecriglernajjartipoi AT harrispaulr evolucionprolongadaensindromedecriglernajjartipoi
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Evolución prolongada en síndrome de Crigler-Najjar tipo I

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