Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Crigler-Najjar-Syndrom 2

Crigler-Najjar-Syndrom 2 ist eine autosomal rezessive Erkrankung, die durch Mutationen des UGT1A1-Gens hervorgerufen wird. Im Unterschied zum Typ 1 ist der Verlauf beim Typ 2 milder, weil noch eine gewisse Restfunktion des Enzyms vorhanden ist.

Gliederung

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

Referenzen:

1.

Kadakol A et al. (2001) Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.

[^]
2.

Petit F et al. (2006) Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.

[^]
3.

Seppen J et al. (1994) Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

[^]
4.

Gollan JL et al. (1975) Prolonged survival in three brothers with severe type 2 Crigler-Najjar syndrome. Ultrastructural and metabolic studies.

[^]
5.

Moghrabi N et al. (1993) Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.

[^]
6.

Yamamoto K et al. (1998) Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.

[^]
7.

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

[^]
8.

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

[^]
9.

Hunter JO et al. (1973) Inheritance of type 2 Crigler-Najjar hyperbilirubinaemia.

[^]
10.

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

[^]
11.

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

[^]
12.

Güldütuna S et al. (1995) Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance.

[^]