Nonphysiologic neonatal jaundice – Maternal serum jaundice, also known as Lucey-Driscoll syndrome, is an autosomal recessive metabolic. En bioquímica, una ruta metabólica o vía metabólica es una sucesión de reacciones químicas que conducen de un sustrato inicial a uno o. “Las enfermedades de Jean-Jacques Rousseau”. Revista Aleph (in Gilbert’s syndrome · Crigler–Najjar syndrome · Lucey–Driscoll syndrome. conjugated.
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Crigler—Najjar syndrome or CNS is a rare inherited disorder affecting the metabolism of bilirubina chemical formed from the breakdown of the heme in red blood cells. The disorder results in a form of non hemolytic jaundicewhich results in high levels of unconjugated bilirubin and often leads to brain damage in infants. The disorder is inherited in an autosomal recessive manner.
This syndrome is divided into types I and II, with the latter sometimes called Arias syndrome. These two types, along driscolo Gilbert’s syndromeDubin—Johnson syndromeand Rotor syndromemake up the five known hereditary defects in bilirubin metabolism.
Unlike Gilbert’s syndrome, only a few causes of CNS are known. It is caused by abnormalities in the gene coding for uridine driscol, glucuronosyltransferase UGT1A1. UGT1A1 normally catalyzes the conjugation of bilirubin and glucuronic acid within hepatocytes.
Conjugated bilirubin is more water soluble and is excreted in bile. This is a very rare disease estimated at 0. Inheritance is autosomal recessive. Intense jaundice appears in the first days of life and persists thereafter.
No UDP glucuronosyltransferase 1-A1 expression can be detected in the liver tissue. Hence, there is no response ejfermedad treatment with phenobarbital which causes CYP enzyme induction.
Most patients type IA have a mutation in one of the common exons 2 to 5and have difficulties conjugating several additional substrates several drugs and xenobiotics.
A ddriscoll percentage of patients type IB have mutations limited to the bilirubin-specific A1 exon; their conjugation defect is mostly restricted to bilirubin itself. Before the availability of phototherapythese children died of kernicterus bilirubin encephalopathy or survived until early adulthood with clear neurological impairment.
Neonatal jaundice may develop in the presence of sepsishypoxiahypoglycemiahypothyroidismhypertrophic pyloric stenosisgalactosemiafructosemiaetc. In Crigler—Najjar syndrome and Gilbert enfernedad, routine liver function tests are normal, and hepatic histology usually is normal, too.
No evidence for hemolysis is seen. Drug-induced cases typically regress efnermedad discontinuation of the substance. Prematurity results in higher levels. One year-old girl with Crigler—Najjar syndrome type I was successfully treated by liver cell transplantation.
The homozygous Gunn ratwhich lacks the enzyme uridine diphosphate glucuronyltransferase UDPGTis an animal model for the study of Crigler—Najjar syndrome.
Crigler–Najjar syndrome – Wikipedia
Since only one enzyme is working improperly, ludey therapy for Crigler-Najjar is a theoretical option which is being investigated. From Wikipedia, the free encyclopedia. This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources.
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January Learn how and when to remove this template message. European Journal of Pediatrics. The New Enrermedad Journal of Medicine. American Journal of Diseases of Children. Heme metabolism disorders E80 ALAD porphyria Acute intermittent porphyria. Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria. Gilbert’s syndrome Crigler—Najjar syndrome Lucey—Driscoll syndrome.
Dubin—Johnson syndrome Rotor syndrome. Retrieved from ” https: Syndromes affecting the hepatobiliary system Heme metabolism disorders Hepatology Rare syndromes.
Acute intermittent porphyria
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