Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Gilbert-Syndrom

Das Gilbert-Syndrom ist eine indirekte Hyperbilirubinämie ohne Krankheitswert. Sie wird auf Störungen des vom UGT1A-Gen kodierten Enzyms zurückgeführt. Die Vererbung kann sowohl dominant als auch rezessiv sein.

Management

Mit Phenobarbital kann eine Enzyminduktion und damit eine Verbesserung der Bilirubinwerte erzielt werden.

Gliederung

Genetisch bedingte Hyperbilirubinämie
Crigler-Najjar-Syndrom 1
Crigler-Najjar-Syndrom 2
Familiäre transiente neonatale Hyperbilirubinämie
Gilbert-Syndrom
UGT1A
Hyperbilirubinämie vom Rotor-Typ

Referenzen:

1.

Maruo Y et al. (1999) A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene.

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2.

Borlak J et al. (2000) Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects.

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3.

Sugatani J et al. (2002) Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.

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4.

Hsieh TY et al. (2007) Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter.

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5.

Strassburg CP et al. (2008) Pharmacogenetics of Gilbert's syndrome.

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6.

Bosma PJ et al. (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.

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7.

Koiwai O et al. (1995) Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase.

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8.

BILLING BH et al. (1964) DEFECTS IN HEPATIC TRANSPORT OF BILIRUBIN IN CONGENITAL HYPERBILIRUBINAEMIA: AN ANALYSIS OF PLASMA BILIRUBIN DISAPPEARANCE CURVES.

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9.

Labrune P et al. (1989) Crigler-Najjar type II disease inheritance: a family study.

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10.

Powell LW et al. (1967) Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families.

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11.

Sleisenger MH et al. (1967) Nonhemolytic unconjugated hyperbilirubinemia with hepatic glucuronyl transferase deficiency: a genetic study in four generations.

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12.

Platzer R et al. (1978) Polymorphic acetylation and aminopyrine demethylation in Gilbert's syndrome.

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13.

Hsieh SY et al. (2001) Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome.

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14.

Owens D et al. (1975) Population studies on Gilbert's syndrome.

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15.

FOULK WT et al. (1959) Constitutional hepatic dysfunction (Gilbert's disease): its natural history and related syndromes.

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16.

ARIAS IM et al. (1962) Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults.

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17.

Dawson J et al. (1979) Gilbert's syndrome: analytical subcellular fractionation of liver biopsy specimens. Enzyme activities, organelle pathology and evidence for subpopulations of the syndrome.

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18.

Black M et al. (1970) Treatment of Gilbert's syndrome with phenobarbitone.

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19.

Arias IM et al. (1969) Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity.

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20.

Berk PD et al. (1970) Constitutional hepatic dysfunction (Gilbert's syndrome). A new definition based on kinetic studies with unconjugated radiobilirubin.

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21.

Black M et al. (1969) Hepatic bilirubin udp-glucuronyl transferase activity in liver disease and gilbert's syndrome.

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22.

Nixon JC et al. (1967) Gilbert's disease and the bilirubin tolerance test.

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23.

Portman OW et al. () A nonhuman primate model of Gilbert's syndrome.

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24.

Schmid R et al. (1995) Gilbert's syndrome--a legitimate genetic anomaly?

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