Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Crigler-Najjar-Syndrom 1

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

Gliederung

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

Referenzen:

1.

Jansen PL et al. (1992) New developments in glucuronidation research: report of a workshop on "glucuronidation, its role in health and disease".

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2.

Ritter JK et al. (1992) Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.

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3.

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

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4.

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.

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5.

CRIGLER JF et al. (1952) Congenital familial nonhemolytic jaundice with kernicterus.

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6.

CHILDS B et al. (1959) Glucuronic acid conjugation by patients with familial nonhemolytic jaundice and their relatives.

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7.

SZABO L et al. (1963) STUDIES ON THE INHERITANCE OF CRIGLER--NAJJAR'S SYNDROME BY THE MENTHOL TEST.

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8.

Roy-Chowdhury J et al. (1991) Molecular basis for the lack of bilirubin-specific and 3-methylcholanthrene-inducible UDP-glucuronosyltransferase activities in Gunn rats. The two isoforms are encoded by distinct mRNA species that share an identical single base deletion.

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9.

Galbraith RA et al. (1992) Suppression of bilirubin production in the Crigler-Najjar type I syndrome: studies with the heme oxygenase inhibitor tin-mesoporphyrin.

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10.

Iyanagi T et al. (1991) Molecular basis of multiple UDP-glucuronosyltransferase isoenzyme deficiencies in the hyperbilirubinemic rat (Gunn rat).

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11.

Robertson KJ et al. (1991) Investigation of the molecular basis of the genetic deficiency of UDP-glucuronosyltransferase in Crigler-Najjar syndrome.

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12.

van Es HH et al. (1990) Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I.

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13.

Nazer H et al. (1990) Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins.

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14.

Iyanagi T et al. (1989) The 3-methylcholanthrene-inducible UDP-glucuronosyltransferase deficiency in the hyperbilirubinemic rat (Gunn rat) is caused by a -1 frameshift mutation.

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15.

Roy Chowdhury N et al. (1987) Isolation of multiple normal and functionally defective forms of uridine diphosphate-glucuronosyltransferase from inbred Gunn rats.

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16.

Shevell MI et al. (1987) Crigler-Najjar syndrome type I: treatment by home phototherapy followed by orthotopic hepatic transplantation.

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17.

Wolkoff AW et al. (1979) Clinical conference. Crigler-Najjar syndrome (type I) in an adult male.

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18.

Karon M et al. (1970) Effective phototherapy in congenital nonobstructive, nonhemolytic jaundice.

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19.

Blumenschein SD et al. (1968) Familial nonhemolytic jaundice with late onset of neurological damage.

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20.

Gardner WA et al. (1969) Familial nonhemolytic jaundice: bilirubinosis and encephalopathy.

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21.

Matas AJ et al. (1976) Hepatocellular transplantation for metabolic deficiencies: decrease of plasms bilirubin in Gunn rats.

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22.

van der Veere CN et al. (1996) Current therapy for Crigler-Najjar syndrome type 1: report of a world registry.

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23.

Ilan Y et al. (1996) Induction of central tolerance by intrathymic inoculation of adenoviral antigens into the host thymus permits long-term gene therapy in Gunn rats.

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24.

Rubboli G et al. (1997) A neurophysiological study in children and adolescents with Crigler-Najjar syndrome type I.

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25.

Fox IJ et al. (1998) Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation.

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26.

Shevell MI et al. (1998) Neurologic perspectives of Crigler-Najjar syndrome type I.

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